| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... |
OMIM:232700 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
OMIM:148730 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol c... |
OMIM:615703 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... |
OMIM:612526 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... |
ORPHA:280356 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma |
OMIM:613000 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce... |
OMIM:615980 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:615395 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... |
ORPHA:435660 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... |
ORPHA:276580 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Hypertriglyceridemia |
ORPHA:71529 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... |
ORPHA:63273 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... |
ORPHA:276556 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:146750 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric acidemia, Cardiomyopathy |
OMIM:613657 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Excessive insulin response ... |
ORPHA:324575 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Abnormal cir... |
ORPHA:171706 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... |
OMIM:620357 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Macroglossia, Precocious puberty in females, Failure to thrive, Hypertrophic ... |
ORPHA:528 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Leg muscle stiffness, Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhyth... |
ORPHA:320360 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:606685 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... |
OMIM:613255 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal upper limb amyotrophy, Di... |
OMIM:614065 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra... |
OMIM:619048 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... |
ORPHA:363400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... |
OMIM:608099 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:151660 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyo... |
ORPHA:26793 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... |
OMIM:611880 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Loss of fac... |
ORPHA:79083 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy |
ORPHA:79087 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... |
OMIM:617872 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Sitosterolemia 2 |
|
Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase ... |
OMIM:609500 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... |
ORPHA:79237 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Hyper... |
OMIM:212138 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsuli... |
ORPHA:369873 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613122 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatomegaly, Diab... |
OMIM:606069 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Myo... |
ORPHA:2348 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... |
OMIM:302045 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat... |
ORPHA:171445 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Hepatic stea... |
ORPHA:26792 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:613286 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... |
OMIM:300376 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... |
OMIM:232400 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... |
OMIM:619402 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Dilated cardio... |
OMIM:610768 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w... |
ORPHA:98912 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... |
ORPHA:369 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613252 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,... |
OMIM:620300 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... |
OMIM:181350 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Foot dorsiflexor weakness, Elevated circulating hepatic transaminase concentration, Hepatic steat... |
OMIM:618400 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:301075 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... |
ORPHA:159 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Recurrent otitis media, Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive... |
ORPHA:217622 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... |
ORPHA:98911 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... |
OMIM:605362 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea... |
ORPHA:199296 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... |
OMIM:620236 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Dysbetalipoproteinemia |
|
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, Obesity, Increased LD... |
ORPHA:412 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... |
OMIM:231530 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... |
OMIM:261750 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... |
OMIM:600649 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Hypoglycemia |
OMIM:262400 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ... |
ORPHA:399103 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular... |
OMIM:619566 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis, A... |
ORPHA:2022 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... |
OMIM:600334 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc... |
OMIM:255100 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic sho... |
ORPHA:97287 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:79159 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
OMIM:616222 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased circulating carnitine concentration, Dilated cardiomyopathy |
OMIM:611283 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc... |
OMIM:609308 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... |
OMIM:246900 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... |
ORPHA:90065 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... |
OMIM:619386 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... |
OMIM:604286 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis |
ORPHA:446 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... |
ORPHA:280365 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Cardiomyopathy |
OMIM:619647 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... |
ORPHA:209902 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemia, Rhabdomyolysis, Hy... |
ORPHA:449285 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, H... |
ORPHA:401923 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... |
ORPHA:79240 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Hypotension, Decreased circulating dehydroepiandrosterone concentration, Impa... |
ORPHA:361 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldosterone lev... |
ORPHA:556037 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitar... |
ORPHA:95619 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... |
OMIM:611705 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... |
OMIM:617336 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... |
OMIM:618234 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... |
ORPHA:66529 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... |
ORPHA:206546 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Seckel Syndrome 10 |
|
Insulin resistance, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glyc... |
OMIM:617253 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... |
OMIM:613690 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... |
ORPHA:42 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldosterone lev... |
ORPHA:556030 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Rhabdomyolysis, Elevated circulating creatine kinase concentratio... |
OMIM:145600 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... |
ORPHA:156 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Limb-gird... |
OMIM:615352 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... |
OMIM:613327 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... |
ORPHA:77296 |
| Laron Syndrome |
|
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... |
ORPHA:633 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:261740 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Woolly Hair-Skin Fragility Syndrome |
|
Acantholysis, Palmoplantar keratoderma |
OMIM:620415 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Abnormal tricuspid valve morphology, Overgrowth, Lipodystroph... |
ORPHA:199276 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... |
OMIM:231100 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricul... |
ORPHA:100080 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... |
ORPHA:1345 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, Decreased liver function |
ORPHA:67048 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Cardiomyopathy, Myofibrillar myopathy, Elevated circulating creatine kina... |
OMIM:609452 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... |
OMIM:264350 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... |
OMIM:613313 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... |
OMIM:261680 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... |
OMIM:613876 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity, Torticollis |
OMIM:620639 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear... |
OMIM:602390 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf... |
OMIM:618805 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Portal ... |
OMIM:619433 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Re... |
ORPHA:206559 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... |
ORPHA:2088 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating... |
OMIM:611489 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Genera... |
OMIM:608594 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... |
OMIM:613752 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... |
OMIM:177735 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Hypoglycemia, Increased circulating prolactin concentration, Limb hypertonia, Joint ... |
ORPHA:35708 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Hypotension, Increased circulating prolactin concentration, Decreased respons... |
ORPHA:91354 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Abnormal... |
ORPHA:99886 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
| Whipple Disease |
|
Insulin resistance, Hypotension, Gastrointestinal hemorrhage, Uveitis, Infectious encephalitis, H... |
ORPHA:3452 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... |
ORPHA:369840 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... |
OMIM:201475 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ... |
OMIM:616827 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... |
ORPHA:263297 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Hepatitis, Cardiomyopathy, Hyperammonemia, Skin rash, Infectious en... |
ORPHA:292 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, R... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, R... |
ORPHA:100082 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
| Scrub Typhus |
|
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneou... |
OMIM:269700 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:248370 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Distal lower limb muscle weakness |
ORPHA:94124 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Hepatic Lipase Deficiency |
|
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Abnormal heart morphology, Hyperglycemia, Abnormal glucose homeostasis, Hypon... |
ORPHA:391673 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Decreased circulating carnitine con... |
ORPHA:2394 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
ORPHA:96184 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, General... |
ORPHA:98908 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... |
ORPHA:444490 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... |
OMIM:615184 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Myocardial necrosis |
OMIM:260400 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:263494 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Orthokeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Myocardial necrosis, Infectious encephalitis, Pustule, Arrhythmia, Abnormality of the ... |
ORPHA:68 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... |
OMIM:619424 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... |
OMIM:614582 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... |
OMIM:611126 |
| Legionnaires Disease |
|
Hypotension, Hepatitis, Infectious encephalitis, Hyponatremia, Arrhythmia, Pancreatitis, Myocardi... |
ORPHA:549 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Bacterial Toxic-Shock Syndrome |
|
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating creatinin... |
ORPHA:36234 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... |
OMIM:619013 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:618620 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Increased circulating procalcitonin concentration, Takotsubo cardiomyopathy |
ORPHA:363549 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Hype... |
ORPHA:94086 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert... |
ORPHA:767 |
| Aromatase Deficiency |
|
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic ste... |
ORPHA:91 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... |
OMIM:613874 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc... |
OMIM:613155 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... |
ORPHA:5 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... |
OMIM:102200 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circu... |
OMIM:203400 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy, Abnormality of the liver |
ORPHA:391457 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... |
ORPHA:263455 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa... |
OMIM:616483 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:99901 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... |
OMIM:619903 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... |
OMIM:603552 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp... |
OMIM:610717 |
| Aa Amyloidosis |
|
Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothyroidism |
ORPHA:85445 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ventricular septal de... |
OMIM:616730 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618881 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia |
OMIM:607250 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Shock, Pancreatitis, Diabetic ketoacidosis |
ORPHA:70578 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture |
OMIM:608540 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... |
ORPHA:439232 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,... |
OMIM:500009 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic sho... |
ORPHA:100075 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... |
ORPHA:90791 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula... |
OMIM:614876 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... |
OMIM:610198 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia |
OMIM:615668 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
| Acrokeratosis Verruciformis |
|
Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
OMIM:201450 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Shock, Increased circulating procalcitonin concentration, Acute infectiou... |
ORPHA:36238 |
| Nipah Virus Disease |
|
Hypotension, Infectious encephalitis |
ORPHA:99825 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem... |
ORPHA:31824 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
| Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... |
ORPHA:890 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... |
ORPHA:247598 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... |
ORPHA:542323 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf... |
ORPHA:98896 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... |
OMIM:264470 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... |
ORPHA:171439 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ... |
ORPHA:565612 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocor... |
ORPHA:199299 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy |
OMIM:620270 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy... |
OMIM:612954 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Meningococcal Meningitis |
|
Hypotension, Shock, Skin rash, Infectious encephalitis, Increased circulating procalcitonin conce... |
ORPHA:33475 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Hypogonadism, Obesity, Partial atrioventricular canal defect, Hepatic ste... |
OMIM:615996 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Hyperalaninemia |
OMIM:615917 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... |
ORPHA:230 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... |
OMIM:300635 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Recurrent pneumonia, Adrenocorticotropin deficient adrenal insufficiency, Recurrent ... |
ORPHA:293978 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... |
OMIM:614921 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans, Maculopapula... |
ORPHA:79455 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... |
ORPHA:73272 |
| Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... |
OMIM:235200 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... |
ORPHA:1349 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Stomatitis |
ORPHA:79155 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... |
OMIM:600955 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age, Abnormal heart morphology |
ORPHA:439167 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis, Hypersarcosinemia |
ORPHA:3129 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus |
OMIM:615981 |
| Galloway-Mowat Syndrome 7 |
|
Minimal change glomerulonephritis, Dilated cardiomyopathy, Eczematoid dermatitis, Ventricular sep... |
OMIM:618348 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98853 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ... |
OMIM:619902 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... |
OMIM:615558 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... |
OMIM:300580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonatal hypoglycemia |
OMIM:619046 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Cardiomyopathy |
OMIM:619003 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Cong... |
OMIM:203800 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradyca... |
OMIM:614702 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr... |
ORPHA:119 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... |
ORPHA:59135 |
| Acute Adrenal Insufficiency |
|
Hypotension, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primary adre... |
ORPHA:95409 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, ... |
OMIM:618120 |
| Pituitary Apoplexy |
|
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... |
ORPHA:95613 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism |
ORPHA:2430 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... |
OMIM:115195 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... |
ORPHA:79301 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi... |
ORPHA:70472 |
| Dengue Fever |
|
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Skin rash, Cerebral hemorrhage, Hypoproteinemia |
ORPHA:99828 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Hypogonadism, Abnormality o... |
ORPHA:79230 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... |
OMIM:619371 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:604250 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, E... |
ORPHA:254886 |
| Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... |
OMIM:310200 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... |
ORPHA:3287 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H... |
OMIM:300918 |
| Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hepatic steatosis, Common atrium, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Bradycardia, Tachycardia, Cardiac arrest |
ORPHA:70587 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia, Telangiectasia of the skin, Hepatomegaly, Hyperkerat... |
ORPHA:79279 |
| Rheumatic Fever |
|
Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val... |
ORPHA:3099 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Dilated cardiomyopathy, Recurrent hypoglycemia, Hyperammonemia, Hyperuricemia, Nonke... |
ORPHA:20 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decr... |
OMIM:615160 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Hypoketotic hy... |
ORPHA:228308 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia |
OMIM:616276 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Abnormal heart morphology, Hypoglycemia |
ORPHA:231147 |
| Wilson Disease |
|
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:905 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia |
OMIM:618958 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Hyperalaninemia, Wolff-Parkinson-White syndrome |
OMIM:618378 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, El... |
OMIM:620609 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98863 |
| Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
| American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Skin rash, Infectious encephalitis, Arrhythmia, Myocard... |
ORPHA:3386 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98855 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... |
OMIM:249270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hypertension |
ORPHA:134 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Elevated circulating erythropoietin concentration, ... |
OMIM:263400 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ... |
OMIM:609734 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... |
ORPHA:52430 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly, Gastrointestinal hemorrhage, Palmoplantar keratoderma |
ORPHA:2198 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... |
OMIM:619418 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Decreased circulating cortisol level, Cardiomyopathy, Elevated circulating creatine... |
OMIM:618839 |
| Familial Hypoaldosteronism |
|
Hypotension, Adrenal insufficiency, Increased circulating renin level, Hyponatremia, Decreased ci... |
ORPHA:427 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
| Smith-Magenis Syndrome |
|
Abnormal heart morphology, Abnormality of the thyroid gland, Increased body weight, Hypercholeste... |
OMIM:182290 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Cholera |
|
Hypovolemic shock, Hypotension, Hypoglycemia, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hy... |
ORPHA:173 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... |
OMIM:615438 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Limb muscle weakness, Ragged-red ... |
OMIM:609286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy |
OMIM:618236 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:618549 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb ... |
OMIM:266500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Decreased circulating carnitine concentration, Brady... |
OMIM:618235 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Malar rash, Elevated circulating creatine kinase concentration, Serositis, ... |
ORPHA:231111 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration |
OMIM:613101 |
| Mercury Poisoning |
|
Hypotension, Interstitial pneumonitis, Hypokalemia, Tachycardia, Hypertension |
ORPHA:330021 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... |
OMIM:252011 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... |
OMIM:615418 |
| Infant Botulism |
|
Hypotension, Hyponatremia, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, Chronic otit... |
ORPHA:178478 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... |
ORPHA:90674 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:618241 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Abnormality of the liver, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Hep... |
ORPHA:254864 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... |
ORPHA:1501 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver... |
OMIM:615382 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:608836 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne... |
ORPHA:329336 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Failure to thrive, Centr... |
ORPHA:508 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy |
OMIM:618237 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy |
ORPHA:93476 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... |
OMIM:615947 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... |
ORPHA:398124 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, Congestive hear... |
ORPHA:746 |
| Desminopathy |
|
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes... |
ORPHA:98909 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con... |
ORPHA:289548 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Hyperinsulinemia, Obesity |
OMIM:618406 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Wrist flexion contracture, Arthritis, Congenital finger flexion contra... |
OMIM:208250 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis |
ORPHA:210548 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration, Tendon xanthomatosis |
OMIM:603776 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con... |
ORPHA:168558 |
| Addison Disease |
|
Thymoma, Hypotension, Type I diabetes mellitus, Androgen insufficiency, Hypoglycemia, Adrenal cal... |
ORPHA:85138 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... |
OMIM:615830 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Skeletal muscle atrophy, Cholestasis, Hyperglycemia... |
OMIM:246200 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Skin rash, Maculopapular exanthema, Myocarditis, Bradycardia, Elevated circul... |
ORPHA:319213 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... |
ORPHA:348 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper lim... |
ORPHA:2912 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Skelet... |
OMIM:616263 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia |
OMIM:248360 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate... |
OMIM:256810 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Ragged-red ... |
OMIM:613561 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Prolonged neonatal jaundice, Neonatal hypoglycemia, Decreased muscle mass |
ORPHA:631 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Congestive heart failu... |
ORPHA:363618 |
| Mpi-Cdg |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Portal hypertension, Hypothyroidism, Hyperinsulinem... |
ORPHA:79319 |
| Naxos Disease |
|
Diffuse palmoplantar hyperkeratosis, Premature ventricular contraction, Arrhythmia, Hyperkeratosi... |
OMIM:601214 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Galactosemia Iii |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... |
ORPHA:26791 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis |
ORPHA:90154 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentrat... |
OMIM:615084 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... |
ORPHA:75249 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... |
ORPHA:98907 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... |
ORPHA:422 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Abnormal circulating lipi... |
ORPHA:567548 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Neonatal hypoglycemia, Diastasis recti, Hypoglycemia |
ORPHA:231140 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy |
OMIM:275630 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp... |
OMIM:232500 |
| Timothy Syndrome |
|
Pneumonia, Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent forame... |
OMIM:601005 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Splenomega... |
OMIM:616719 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Aspirati... |
ORPHA:94093 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Tubulointerstitial nephritis, Ven... |
ORPHA:358 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Propionic Acidemia |
|
Cardiomyopathy, Hypoglycemia, Cerebellar hemorrhage, Pancreatitis, Limb hypertonia, Hepatomegaly |
OMIM:606054 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula... |
OMIM:618835 |
| Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Gout, Cholecystitis, Hyperuricemia, Hypovolemia, Angina pector... |
ORPHA:90041 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Pericarditis |
OMIM:609939 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Arterial oc... |
ORPHA:100078 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar... |
ORPHA:1194 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c... |
OMIM:615595 |
| Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Hypotension, Primary hypercortisolism, Palpitations, Adrenocorticotrop... |
ORPHA:100079 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... |
OMIM:615959 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... |
ORPHA:157 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... |
ORPHA:3191 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Panniculitis, Splenomegaly, Increased circulating ferritin concentration |
OMIM:618398 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... |
ORPHA:79259 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Decreased... |
ORPHA:465508 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy, Diabetes mellitus |
ORPHA:1215 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Infantile Refsum Disease |
|
Elevated circulating phytanic acid concentration, Arrhythmia, Facial palsy, Cardiomyopathy |
ORPHA:772 |
| Marburg Hemorrhagic Fever |
|
Tachycardia, Shock, Elevated circulating creatinine concentration, Arthritis, Bradycardia, Hypovo... |
ORPHA:99826 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Lower limb muscle weakness, Gluc... |
OMIM:606721 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tubulointerstit... |
ORPHA:90068 |
| Psoriasis 2 |
|
Parakeratosis, Hyperkeratosis |
OMIM:602723 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Gastrointestinal hemorrhage, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
| Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Pu... |
ORPHA:81 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehydroepiandrost... |
ORPHA:90794 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Retinal hemorrhage, Erythema nodosum, Tachycardia, Epididymitis, Diffuse alveo... |
ORPHA:99827 |
| Gitelman Syndrome |
|
Hypotension, Hypomagnesemia, Palpitations, Rhabdomyolysis, Hypokalemia, Ventricular tachycardia, ... |
OMIM:263800 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Juvenile rheumatoid ... |
ORPHA:85414 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... |
OMIM:201910 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Ca... |
OMIM:619051 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra... |
OMIM:617049 |
| Yao Syndrome |
|
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunct... |
OMIM:617321 |
| Peroxisome Biogenesis Disorder 9B |
|
Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:614879 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
ORPHA:158057 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Combined Malonic And Methylmalonic Acidemia |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia |
ORPHA:289504 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Decreased liver function, Cholestasis, Hepatomegaly, Hypergalactosemia |
ORPHA:570422 |
| Serotonin Syndrome |
|
Tachycardia, Hypotension, Hypertension, Rhabdomyolysis |
ORPHA:43116 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... |
ORPHA:464343 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Flexion contracture, Splenomegaly |
ORPHA:77260 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... |
OMIM:208920 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... |
ORPHA:275761 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... |
OMIM:617575 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Ventr... |
OMIM:615630 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... |
OMIM:609015 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Gastritis, Prolonged QT interval, Fac... |
ORPHA:31826 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Ventricular septal defect, Hypoth... |
ORPHA:254346 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hypoglycemia |
OMIM:620137 |
| Alg1-Cdg |
|
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle... |
ORPHA:298 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly |
OMIM:251000 |
| Wolman Disease |
|
Failure to thrive, Acute hepatic failure, Adrenal calcification, Splenomegaly, Hepatomegaly |
OMIM:620151 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Decreased muscle mass, Recurrent hy... |
ORPHA:813 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase ... |
ORPHA:352447 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Increased circulating ferritin concentration, Endocardial fibroelasto... |
OMIM:619313 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... |
OMIM:602579 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:620646 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... |
ORPHA:139402 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... |
OMIM:616866 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... |
ORPHA:367 |
| Short Syndrome |
|
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... |
ORPHA:3163 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... |
OMIM:231680 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
| Bartter Syndrome, Type 3 |
|
Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys... |
OMIM:607364 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Palmoplantar keratoderma |
ORPHA:455 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Erythroderma |
ORPHA:79456 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice |
ORPHA:172 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Collagenoma, Familial Cutaneous |
|
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... |
OMIM:115250 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Dilated cardiomyopathy, Abnormal circulating lipid concentration, Inguinal he... |
OMIM:616541 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension |
ORPHA:98850 |
| Scedosporiosis |
|
Pneumonia, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Diabetes mellitus, E... |
ORPHA:449280 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... |
OMIM:615415 |
| Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Fasting hypoglycemia |
OMIM:201400 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... |
OMIM:620152 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f... |
OMIM:258450 |
| Prader-Willi Syndrome |
|
Precocious puberty, Class III obesity, Decreased muscle mass, Decreased HDL cholesterol concentra... |
OMIM:176270 |
| Mehmo Syndrome |
|
Hypoglycemia |
OMIM:300148 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Fa... |
ORPHA:79322 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Decreased liver function, Hepatic steatosis, Myopathy, Hepatomegaly |
OMIM:614922 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Left vent... |
OMIM:209900 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... |
ORPHA:79239 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Elevated circulating parathyroid hormone level |
ORPHA:439822 |
| Acute Radiation Syndrome |
|
Telangiectasia, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... |
OMIM:618329 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Obesity, Hypoalbuminemia |
ORPHA:88643 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Congestive heart failure, Episclerit... |
ORPHA:727 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Hyperalaninemia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:324525 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypotension, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Tubulointerstiti... |
OMIM:174000 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Acute rhabdomyolysis, Finger joint contracture, Hypoglycemia, Flexion contracture of toe |
ORPHA:48431 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia |
OMIM:229700 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Failure to thrive, Tall stature, Hepatic steatosis, Inguinal hernia, Mitral v... |
OMIM:236200 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... |
OMIM:602541 |
| Werner Syndrome |
|
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:277700 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... |
OMIM:613812 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... |
ORPHA:99725 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Primary adrenal insufficiency, Ragged-red mu... |
OMIM:530000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hyperammonemia, Cardiomyopathy |
ORPHA:79312 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Ascites, Tricuspid regurgitation, Splenomegaly, Pulmonary arterial hype... |
ORPHA:2414 |
| Werner Syndrome |
|
Insulin resistance, Chondrocalcinosis, Skeletal muscle atrophy, Hypogonadism, Slender build, Thyr... |
ORPHA:902 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... |
ORPHA:3208 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... |
ORPHA:2959 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:212065 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:616549 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... |
OMIM:620326 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary... |
ORPHA:57777 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Congestive heart failure |
ORPHA:163596 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy, Diabetes mellitus |
ORPHA:96 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy |
OMIM:610006 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... |
OMIM:609040 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ... |
OMIM:212112 |
| Mcleod Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... |
OMIM:300842 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Hypercholesterolemia, ... |
ORPHA:819 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Elevated circulating... |
OMIM:607155 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Oligoarthritis... |
ORPHA:31205 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
| Adult-Onset Still Disease |
|
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... |
ORPHA:829 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Elevated circulating creati... |
ORPHA:368 |
| Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... |
ORPHA:391665 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema... |
ORPHA:2137 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Shigellosis |
|
Pneumonia, Hypovolemic shock, Conjunctivitis, Hypoglycemia, Ulcerative colitis, Rhabdomyolysis, H... |
ORPHA:810 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated... |
ORPHA:93672 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, Hepatic steatosis... |
ORPHA:445038 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Congestive heart failure, ... |
ORPHA:428 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Adrenocorticotropin deficien... |
ORPHA:2965 |
| Dilated Cardiomyopathy With Ataxia |
|
Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... |
ORPHA:66634 |
| Alexander Disease |
|
Precocious puberty, Hypotension, Infectious encephalitis, Hypothyroidism, Sudden cardiac death, F... |
ORPHA:58 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hyperammonemia, Cardiomyopathy |
ORPHA:27 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Leptospirosis |
|
Hypotension, Uveitis, Hepatitis, Pulmonary hemorrhage, Skin rash, Rhabdomyolysis, Arrhythmia, Opt... |
ORPHA:509 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c... |
OMIM:619463 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Torsade de pointes, Hypertrophic ... |
OMIM:616878 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Orthokeratosis, Cholestasis, Portal hypertension, Splenomegaly... |
OMIM:607626 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... |
OMIM:614450 |
| Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Hypoglycemia, Pan... |
OMIM:232200 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... |
OMIM:302060 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Cardiac arrest, Sudden ca... |
OMIM:212350 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:619487 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:237800 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Camptodactyly of finger, Mitral regurgitation, Mitral valve prolapse... |
ORPHA:2848 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... |
OMIM:210500 |
| Scorpion Envenomation |
|
Acute pancreatitis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bu... |
ORPHA:466677 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... |
ORPHA:1667 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated... |
ORPHA:340 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Hypoglycemia, Congestive heart failure... |
OMIM:619355 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy |
OMIM:618228 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Hypotension, Camptodactyly of finger, Arrhythmia, Telangiectasia of the skin |
ORPHA:2135 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Lipodystrophy, Hypertrigly... |
OMIM:617591 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:245400 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Limb hypertonia, Generalized amyotrophy |
OMIM:617710 |
| Hec Syndrome |
|
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy |
ORPHA:2119 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Hyperalaninemia, Skeletal muscle atrophy |
OMIM:616896 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co... |
ORPHA:88630 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Pancreatitis... |
OMIM:619471 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Myopathy, Hepatic steatosis, Failure to thrive |
ORPHA:977 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Upper limb muscle weakness, Cardiomyopathy, Palpitation... |
ORPHA:892 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle ... |
ORPHA:436271 |
| Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypogonadism, Hyperammonemia, Arrhythmia, Hy... |
ORPHA:254913 |
| Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:105200 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ... |
OMIM:617713 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia |
OMIM:618182 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... |
OMIM:266510 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... |
OMIM:615486 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy |
OMIM:105120 |
| Wolman Disease |
|
Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, H... |
ORPHA:75233 |
| Vipoma |
|
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:97282 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypoglycemia, Hypopit... |
ORPHA:90695 |
| Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... |
OMIM:276700 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Limb hypertonia, Torticollis |
OMIM:608643 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
ORPHA:444013 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Pelvic girdle muscle weakness, Prolonged PR interval, Secondary hyperparathyroi... |
ORPHA:273 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
| Ataxia With Vitamin E Deficiency |
|
Tendon xanthomatosis, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,... |
OMIM:277460 |
| Immunodeficiency 10 |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Myopathy |
OMIM:612783 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... |
ORPHA:456312 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse |
OMIM:145350 |
| Somatostatinoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97283 |
| Pearson Syndrome |
|
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Abnorm... |
ORPHA:699 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El... |
OMIM:230400 |
| Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:544469 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly |
ORPHA:848 |
| Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... |
OMIM:619481 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr... |
OMIM:229600 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentra... |
ORPHA:247691 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Cystathioninemia, Hypomethioninemia, Pulmonary arterial hypertension, Hyperhomocysti... |
OMIM:277400 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disea... |
OMIM:619705 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Sepsis In Premature Infants |
|
Hypotension, Enterocolitis, Bradycardia, Elevated circulating C-reactive protein concentration, T... |
ORPHA:90051 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Ventricular septal hypertrophy, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... |
ORPHA:1133 |
| Systemic Sclerosis |
|
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Osteomyelitis, Elevated ... |
ORPHA:90291 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Dilated cardiomyopathy, Hypoglycemia |
OMIM:251110 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
OMIM:603553 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
| Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypoglycemia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Q Fever |
|
Pneumonia, Vasculitis, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Cholecystitis, ... |
ORPHA:781 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
OMIM:124000 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M... |
OMIM:604377 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... |
ORPHA:17 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... |
OMIM:619064 |
| Cog8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia |
ORPHA:95428 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Acne inversa, Panniculitis, Elevated circulating C-reactive protein conce... |
OMIM:608068 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger |
ORPHA:1759 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Neoplasm of the liver, Abnormal peritoneum mor... |
ORPHA:2126 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... |
OMIM:619167 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Elevated circulating... |
ORPHA:370959 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Synovitis, Ery... |
OMIM:186580 |
| Isolated Complex I Deficiency |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Diabetes mellitus, Abnormal mitochondria... |
ORPHA:2609 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, At... |
OMIM:608776 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... |
ORPHA:466650 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver function, Congestive hear... |
OMIM:608779 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia |
ORPHA:163693 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Parakeratosis, Syncope, Ventricular tachycardia... |
OMIM:615821 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Skin rash, Myositis, Gastritis, Pulmonary arterial hypertension, Ker... |
ORPHA:809 |
| Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... |
ORPHA:91139 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... |
OMIM:614963 |
| Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
| Noonan Syndrome 8 |
|
Eczematoid dermatitis, Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defe... |
OMIM:615355 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... |
ORPHA:3464 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Failure to thrive |
ORPHA:28 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... |
ORPHA:30391 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Central diabetes insi... |
OMIM:620167 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... |
OMIM:601847 |
| Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hip contracture, Noncompactio... |
ORPHA:353298 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly |
OMIM:133180 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat... |
OMIM:612714 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esophagitis, Telan... |
ORPHA:3342 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... |
ORPHA:728 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Failure to thrive... |
OMIM:227810 |
| Wolfram Syndrome 1 |
|
Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus |
OMIM:222300 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... |
OMIM:210250 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc... |
ORPHA:79474 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Hyperammonemia |
OMIM:611719 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Skeletal muscle atroph... |
OMIM:615895 |
| Al Amyloidosis |
|
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia... |
ORPHA:85443 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of facial musculature... |
OMIM:220110 |
| H Syndrome |
|
Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puberty, Hypertriglyceridemia, C... |
ORPHA:168569 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased muscle... |
ORPHA:96182 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal ... |
ORPHA:32960 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Cardiomyopathy, Dilatation o... |
ORPHA:363623 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Diabetes mellitus, Congestive heart failure |
OMIM:229300 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... |
OMIM:261515 |
| Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hip contracture, Ventricular ... |
OMIM:616651 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac... |
ORPHA:131 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly |
OMIM:603902 |
| Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk... |
ORPHA:110 |
| Felty Syndrome |
|
Recurrent pneumonia, Episcleritis, Synovitis, Arthritis, Sinusitis, Rhinitis, Chronic otitis medi... |
ORPHA:47612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Hyperalaninemia, Abnormal heart morphology |
OMIM:618250 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... |
OMIM:277900 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Ascites, Elevated circ... |
OMIM:608104 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy... |
OMIM:615453 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosp... |
ORPHA:231222 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
| Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy |
OMIM:617183 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly |
OMIM:616622 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Cardiomyopathy, Abnormal circulating hom... |
ORPHA:88618 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Hypoglycemia, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular... |
ORPHA:499009 |
| Alg3-Cdg |
|
Macroglossia, Abnormality of the endocrine system, Arthrogryposis multiplex congenita, Cardiomyop... |
ORPHA:79321 |
| Plague |
|
Hypotension, Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Arrhythm... |
ORPHA:707 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... |
ORPHA:2234 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus |
OMIM:610628 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... |
OMIM:243300 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Vitreous hemorr... |
OMIM:620185 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi... |
OMIM:211600 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Congestive heart failure, Abnormal pericardium morphology, Constrictive pericard... |
ORPHA:67 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... |
ORPHA:137675 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Hypertrophic cardiomyopathy, Shortened PR interval, Elevated circulating creatine k... |
ORPHA:308552 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia |
OMIM:231670 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... |
OMIM:613658 |
| Kawasaki Disease |
|
Hypoalbuminemia, Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricul... |
ORPHA:2331 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Otitis media, Skin rash, H... |
ORPHA:900 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypothyroidism, Hypertension |
ORPHA:93256 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemic seizures, Hypoglycemia, Abn... |
ORPHA:480864 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Zygomycosis |
|
Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Peritonitis, Ente... |
ORPHA:73263 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ra... |
OMIM:614924 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial septal defect, Hepato... |
OMIM:617303 |
| Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Pancreatitis... |
OMIM:232220 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis, Congestive heart failure |
OMIM:616271 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Hepatitis, Hypoglycemia, Shock, Adrenal insufficiency, ... |
ORPHA:90062 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Dilated cardiomyopathy, Cholestasis, Ascites, Elevated circulating aspartate ami... |
OMIM:619573 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hyperglycinemia |
OMIM:614299 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... |
OMIM:606003 |
| Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... |
OMIM:118450 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
| Houge-Janssens Syndrome 1 |
|
Facial hypotonia, Hypoglycemia, Congenital muscular torticollis |
OMIM:616355 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... |
ORPHA:77293 |
| Fabry Disease |
|
Mitral regurgitation, Arrhythmia, Hypertrophic cardiomyopathy, Bundle branch block, Abnormal endo... |
ORPHA:324 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary... |
ORPHA:95494 |
| Behçet Disease |
|
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... |
ORPHA:117 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Pseudoxanthoma Elasticum |
|
Acne, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Skin rash, Mitral valve prolapse, ... |
ORPHA:758 |
| Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase conc... |
OMIM:618775 |
| Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Abnormality of the parathyroid gland, Hepatitis, Keratitis, ... |
ORPHA:2552 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte... |
OMIM:208000 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... |
OMIM:619377 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Prolonged neonatal jaundice, Arteritis, Hypoglycemia |
OMIM:233600 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... |
OMIM:619127 |
| Melas |
|
Type I diabetes mellitus, Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiom... |
ORPHA:550 |
| Ppoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97278 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Fucosidosis |
|
Decreased muscle mass, Generalized hyperkeratosis, Abnormality of the gallbladder, Cardiomegaly, ... |
ORPHA:349 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Secundum atrial septal defect, Hypoglycemia |
OMIM:608688 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:246450 |
| Maple Syrup Urine Disease, Type Ia |
|
Pancreatitis, Hypoglycemia |
OMIM:248600 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
| Glucagonoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97280 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly |
ORPHA:79477 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
| Listeriosis |
|
Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Osteomyelitis, Pyelonephritis, ... |
ORPHA:533 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, H... |
OMIM:252010 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... |
OMIM:603233 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
| Hellp Syndrome |
|
Hypotension, Internal hemorrhage, Cerebral hemorrhage |
ORPHA:244242 |
| Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ... |
ORPHA:397 |
| Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
| Silver-Russell Syndrome 1 |
|
Fasting hypoglycemia, Hepatocellular carcinoma |
OMIM:180860 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... |
OMIM:610199 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... |
OMIM:208540 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypertensive crisis, Septic arthritis, Hypocalcemia, Hyponatremia, Pancreatitis, Myoca... |
ORPHA:544482 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Proximal muscle weakness in lower limbs, Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia |
ORPHA:453533 |
| Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... |
ORPHA:261476 |
| Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Neonatal hypoglycemia, Ragged-red muscle fibers |
OMIM:606407 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... |
ORPHA:158687 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiot... |
OMIM:601678 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cerebral vasculitis, Ele... |
ORPHA:48435 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... |
OMIM:619534 |
| Fish-Eye Disease |
|
Hepatomegaly, Angina pectoris, Splenomegaly |
ORPHA:79292 |
| Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Delayed puberty, Lower limb amyotrophy |
ORPHA:496790 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ... |
ORPHA:1677 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... |
ORPHA:60 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Flexion contra... |
OMIM:609069 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose in... |
OMIM:219090 |
| Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly |
OMIM:619273 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... |
ORPHA:226313 |
| Poems Syndrome |
|
Visceromegaly, Increased circulating prolactin concentration, Ascites, Hypogonadism, Pericardial ... |
ORPHA:2905 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis |
OMIM:611553 |
| Transketolase Deficiency |
|
Type I diabetes mellitus, Elevated circulating ribitol concentration, Abnormal heart morphology, ... |
ORPHA:488618 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:391408 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Corneal neovascularization, Splenomegaly, Follicular hyperkeratosis, Palmoplantar hyperkeratosis,... |
OMIM:617388 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Congenital muscular torticollis, V... |
ORPHA:457279 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy |
ORPHA:1842 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Refsum Disease |
|
Skeletal muscle atrophy, Cardiomyopathy, Heart block |
ORPHA:773 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... |
ORPHA:258 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Dilated cardiom... |
ORPHA:231214 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating thyroid-stimulating... |
OMIM:256040 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature |
OMIM:201470 |
| Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... |
OMIM:260370 |
| Brucellosis |
|
Pneumonia, Hip osteoarthritis, Arteritis, Septic arthritis, Anterior uveitis, Sacroiliac arthriti... |
ORPHA:1304 |
| Immunodeficiency 22 |
|
Panniculitis, Chronic oral candidiasis, Capillary leak, Pericarditis |
OMIM:615758 |
| Bloom Syndrome |
|
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
| Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Nemaline bodies, Hypoglycemia, Elbow contracture |
OMIM:620275 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Glycogen Storage Disease Ic |
|
Spider hemangioma, Hypoglycemia, Chronic pancreatitis, Hepatoblastoma, Pulmonary arterial hyperte... |
OMIM:232240 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia, Syncope, Raynaud phenomenon, Macroglossia |
OMIM:616260 |
| Smith-Kingsmore Syndrome |
|
Diastasis recti, Hypoglycemia |
OMIM:616638 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:607426 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... |
OMIM:619525 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia |
OMIM:618253 |
| Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis |
OMIM:617600 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
| Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97261 |
| Shashi-Pena Syndrome |
|
Limb hypertonia, Atrial septal defect, Hypoglycemia |
OMIM:617190 |
| Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... |
ORPHA:536532 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
| Glycerol Kinase Deficiency |
|
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Hypertrigly... |
OMIM:307030 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach... |
OMIM:300952 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... |
ORPHA:464321 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... |
OMIM:230500 |
| Friedreich Ataxia |
|
Diabetes mellitus, Cardiomyopathy, Hand muscle atrophy |
ORPHA:95 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis |
OMIM:601979 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis... |
OMIM:615846 |
| Familial Mediterranean Fever |
|
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Elevated circulating amyloid A concentration,... |
OMIM:249100 |
| Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Cardiomyopathy, Chilblains, Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... |
ORPHA:400 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... |
OMIM:164310 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Severely reduced left ventricular ejec... |
OMIM:252600 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re... |
ORPHA:90363 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Tall stature, Glucose intolerance, Ventricular septal defect,... |
OMIM:117550 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Vasculitis in the skin |
OMIM:620296 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
| Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... |
OMIM:612462 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Acne, Increased circulating ... |
ORPHA:786 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... |
OMIM:613986 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Small for gestational age, Type II diabetes mellitus, Hepatic steatosis |
OMIM:210900 |
| Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stom... |
ORPHA:29207 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... |
ORPHA:500 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice, Hypertension |
OMIM:613095 |
| Agel Amyloidosis |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Keratoconjuncti... |
ORPHA:85448 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
| Gm1 Gangliosidosis |
|
Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Asp... |
ORPHA:354 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Abnormal muscle fiber morpholog... |
ORPHA:79102 |
| Leigh Syndrome |
|
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Congestive heart failure, Hypertrophic ca... |
ORPHA:506 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatoblastoma, Hepatomega... |
OMIM:130650 |
| Dermatomyositis |
|
Vasculitis, Sinus tachycardia, Heliotrope rash, Inflammatory myopathy, EMG: myopathic abnormaliti... |
ORPHA:221 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis |
OMIM:203300 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiotensin system, Hypomag... |
OMIM:241200 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Abnormal heart morphology, Large for gestational age, Diastasis recti, Ventricu... |
ORPHA:254534 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic left heart, Inflammation of the large intestine, Recurrent otitis media, Hyperinsulin... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hypoplastic left heart, Inflammation of the large intestine, Recurrent otitis media, Hyperinsulin... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic left heart, Inflammation of the large intestine, Recurrent otitis media, Hyperinsulin... |
ORPHA:99226 |
| Turner Syndrome |
|
Hypoplastic left heart, Inflammation of the large intestine, Recurrent otitis media, Hyperinsulin... |
ORPHA:881 |
| Alström Syndrome |
|
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... |
ORPHA:64 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Splenomegaly, Elevated hepatic iron c... |
OMIM:615234 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hyperammo... |
OMIM:615471 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
| Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Abnormal heart valve morphology, Osteomye... |
ORPHA:31204 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Male hypogonadism, Cardiomyopathy, Hypogonadism, Myopathy, Delayed p... |
ORPHA:3463 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy |
ORPHA:572798 |
| Basilicata-Akhtar Syndrome |
|
Camptodactyly, Neonatal hypoglycemia |
OMIM:301032 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninemia, Hypertension |
OMIM:614052 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Congestive heart... |
ORPHA:73224 |
| Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Diastasis recti... |
ORPHA:576 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hypertrophic car... |
ORPHA:309854 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg... |
ORPHA:294 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n... |
ORPHA:226307 |
| Familial Mediterranean Fever |
|
Vasculitis, Erysipelas, Skin rash, Orchitis, Arrhythmia, Peritonitis, Pancreatitis, Arthritis, Os... |
ORPHA:342 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia |
OMIM:616817 |
| Hurler Syndrome |
|
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto... |
ORPHA:93473 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Hypersplenism, Splenomegaly, Mitral regurgitation, Pulmonary ar... |
OMIM:230800 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Ascites, Palp... |
ORPHA:100085 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Generalized lipodystrophy, Splenomegaly, Myositis, Hepatomegaly, Flexion... |
OMIM:619183 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Garg-Mishra Progeroid Syndrome |
|
Microvesicular hepatic steatosis |
OMIM:620601 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentra... |
OMIM:615356 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Partial atrioventricular canal defect, Decreased liver function |
OMIM:620423 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
ORPHA:158048 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Cardiomyopathy, Hypocalcemia, Hypophosphatemia, H... |
ORPHA:289157 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia |
OMIM:619121 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Camptodactyly of finger, Cardiomyopathy, Bundle branch block, Hypoglycemia, Splenome... |
ORPHA:373 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia |
OMIM:619075 |
| African Trypanosomiasis |
|
Myelitis, Second degree atrioventricular block, Third degree atrioventricular block, Keratitis, C... |
ORPHA:3385 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| Perlman Syndrome |
|
Visceromegaly, Hypoglycemia, Ascites, Congenital diaphragmatic hernia, Pancreatic islet-cell hype... |
OMIM:267000 |
| Glucocorticoid Deficiency 2 |
|
Hypoglycemia, Recurrent hypoglycemia |
OMIM:607398 |
| Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:613706 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Bradycardia |
OMIM:220120 |
| Martsolf Syndrome 1 |
|
Cardiac arrest, Hypogonadotropic hypogonadism, Cardiomyopathy, Congestive heart failure |
OMIM:212720 |
| Coccidioidomycosis |
|
Pneumonia, Vasculitis, Vasospasm, Folliculitis, Morbilliform rash, Osteomyelitis, Cerebral ischem... |
ORPHA:228123 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia, Patent foramen ovale |
OMIM:607143 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Flexion contracture, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619383 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Hyperbilirubinemia, Gout, Maculopapular exanthema |
ORPHA:822 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... |
ORPHA:251071 |
| Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Decreased retinol-binding protein level, Lymphad... |
ORPHA:449395 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Cholecystitis... |
OMIM:611881 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... |
OMIM:263200 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia |
ORPHA:469 |
| Mirage Syndrome |
|
Intracranial hemorrhage, Hypoplastic spleen, Hypoglycemia |
OMIM:617053 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Birth length greater than 97th percentile, Large for gestational age, ... |
OMIM:300868 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating calcium-phosphate regulating... |
ORPHA:534 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Hypertrophic cardiomyopathy, Elevated hemoglobin A1c, Glucose intolerance, Glycosuria |
OMIM:616539 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegal... |
OMIM:607014 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microves... |
OMIM:618278 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Hypoglycemia, Abnormal heart mor... |
ORPHA:79282 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures, Bradycardia |
ORPHA:565624 |
| Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Mitral atresia, Ingu... |
OMIM:220111 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia |
OMIM:262600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly |
OMIM:301066 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia |
ORPHA:397590 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia |
OMIM:614736 |
| Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
| Orthostatic Hypotension 1 |
|
Atrial fibrillation, Neonatal hypoglycemia, Orthostatic hypotension, Weakness of facial musculature |
OMIM:223360 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia |
OMIM:256300 |
| Blau Syndrome |
|
Posterior uveitis, Keratitis, Camptodactyly of finger, Large vessel vasculitis, Skin rash, Synovi... |
ORPHA:90340 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Hyp... |
ORPHA:116 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart... |
ORPHA:579 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Chronic mucocutaneous candidiasis, Cardiomyopathy, Congestive heart failu... |
OMIM:242840 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:557000 |
| Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... |
OMIM:232300 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:99889 |
| Usher Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy |
ORPHA:886 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Atrial septal defect, Joint contracture |
OMIM:618005 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... |
ORPHA:3455 |
| Chédiak-Higashi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... |
ORPHA:167 |
| Oculodentodigital Dysplasia |
|
Palmoplantar keratoderma, Hypoglycemia, Camptodactyly of finger, Ventricular septal defect, Arrhy... |
ORPHA:2710 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, D... |
ORPHA:740 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
| Overhydrated Hereditary Stomatocytosis |
|
Pulmonary embolism, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:185000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Increased serum pyruvate |
OMIM:618222 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced haptoglobin... |
OMIM:266200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Macroglossia, Congestive heart failure, Tricuspid regurgitation, Hypertrophic ca... |
ORPHA:505248 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular... |
ORPHA:99776 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:610733 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of toe, Type I diabetes mellitus, Pancreatic hypoplasia, Camptodactyly of fin... |
OMIM:602782 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Neonatal hypoglycemia, Diastasis recti |
ORPHA:457485 |
| Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypertension |
OMIM:243910 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Failure to thrive, Splenomegaly, Hypophosphatemia... |
OMIM:239200 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia |
OMIM:616113 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri... |
OMIM:616564 |
| Primary Hyperoxaluria |
|
Arterial occlusion, Cardiomyopathy, Hyperoxaluria, Intermittent claudication, Raynaud phenomenon,... |
ORPHA:416 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Hypoglycemia, Myopathy, Telangiectasia, Angina pectoris, Intracranial he... |
ORPHA:109 |
| Citrullinemia, Classic |
|
Failure to thrive, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, E... |
OMIM:215700 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... |
ORPHA:398069 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Neonatal hypoglycemia, Hypoglycemia |
OMIM:619055 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Reduced haptoglobin level, Hypothyroidism, Uncon... |
OMIM:613673 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal cardiac septum morphology, Cardiomyopathy |
OMIM:217980 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice, Hypertension |
OMIM:603903 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Abnormal heart valve morphology, Recurrent otitis media, Diastasis recti, Macrogl... |
OMIM:253220 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ragged-red muscle fibers, Hypoglycemia |
OMIM:620451 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Macroglossia, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regur... |
OMIM:253200 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Hypoalbuminemia, Precocious puberty, Failure to thrive, Hypertrophic c... |
OMIM:270400 |
| Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia |
OMIM:202200 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypercalcemia, Precocious puberty, Hypertriglyceridemia |
ORPHA:369837 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Telangiectasia of the skin, Hypoglycemia |
OMIM:616007 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... |
OMIM:619745 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch... |
ORPHA:365 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu... |
OMIM:301068 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve, Macroglossia, Hypoglycemia |
OMIM:614501 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... |
OMIM:309000 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Flexion contracture, Azotemia |
OMIM:619321 |
| Kikuchi-Fujimoto Disease |
|
Vasculitis, Malar rash, Skin rash, Pustule, Vasculitis in the skin, Myocarditis, Elevated circula... |
ORPHA:50918 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Patent fora... |
OMIM:300855 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Abnormal liver lobulation |
OMIM:608022 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Ragged-red m... |
ORPHA:255210 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia |
ORPHA:447788 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia, Torticollis |
OMIM:620224 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
| Holoprosencephaly |
|
Hypoglycemia, Tetralogy of Fallot, Abnormality of the spleen, Abnormal pulmonary valve morphology... |
ORPHA:2162 |
| Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Cardiomyopathy, Aspiration pneumonia |
ORPHA:79255 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczematoid dermatitis, Congestive heart failure, Tricuspid regurgitation, Noncompaction cardiomyo... |
ORPHA:508542 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Jaundice, Hypoglycemia |
ORPHA:90790 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Tetralogy of Fallot, Obesity, Splenomeg... |
OMIM:188400 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613471 |
| Pmm2-Cdg |
|
Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating hepatic transaminase ... |
ORPHA:79318 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia |
OMIM:210210 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration,... |
ORPHA:457077 |
| Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Neonatal hypoglycemia, Atrial septal defect, Pulmonic stenosis |
OMIM:300867 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, ... |
ORPHA:580 |
| Alg12-Cdg |
|
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Biventricular hy... |
ORPHA:79324 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy |
OMIM:616084 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217085 |
| Argininosuccinic Aciduria |
|
Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:207900 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy |
OMIM:615398 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Failure to ... |
OMIM:619475 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia |
ORPHA:2131 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217093 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormality of the liver, Splen... |
ORPHA:84064 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Reduced subcutaneous adipose... |
OMIM:619503 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypoglycemia, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:565 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormal he... |
ORPHA:1606 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... |
ORPHA:97214 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Decreased circulating carnitine concentration, Skeletal muscle atrophy, Glycos... |
OMIM:219800 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Macroglossia, Recurrent pneumonia, Con... |
OMIM:252500 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia |
ORPHA:95496 |
| Cystic Fibrosis |
|
Cor pulmonale, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatospl... |
OMIM:219700 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrial septal defect |
OMIM:250220 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
| Cartilage-Hair Hypoplasia |
|
Cardiomyopathy, Hypocalcemia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal card... |
ORPHA:175 |
| Leopard Syndrome 1 |
|
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Delayed me... |
OMIM:151100 |
| Acromegaly |
|
Acne, Pituitary prolactin cell adenoma, Hypertrophic cardiomyopathy, Pituitary growth hormone cel... |
ORPHA:963 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Joint contracture of the 5th finger, Hepatic steatosis |
OMIM:619934 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Patent foramen ovale, Cardi... |
OMIM:620371 |
| Aymé-Gripp Syndrome |
|
Pericardial effusion, Camptodactyly, Congenital diaphragmatic hernia, Pericarditis |
ORPHA:1272 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
| Deeah Syndrome |
|
Hepatomegaly, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Decreased heart rate vari... |
OMIM:619004 |
| Multiple Endocrine Neoplasia, Type I |
|
Insulinoma, Pancreatic islet cell adenoma, Hypoglycemia |
OMIM:131100 |
| Trichothiodystrophy |
|
Eczematoid dermatitis, Cardiomyopathy, Multiple joint contractures, Congenital exfoliative erythr... |
ORPHA:33364 |
| Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Restrictive cardiomyopathy |
ORPHA:160 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi... |
ORPHA:293987 |
| Friedreich Ataxia 2 |
|
Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro... |
OMIM:601992 |
| Somatomammotropinoma |
|
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... |
ORPHA:314769 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage, Fasting hypoglycemia |
ORPHA:25 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Ventricular s... |
ORPHA:96191 |
| Toriello-Carey Syndrome |
|
Tetralogy of Fallot, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis |
ORPHA:3338 |
| Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy |
ORPHA:79430 |
| Costello Syndrome |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrh... |
OMIM:218040 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d... |
OMIM:617403 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Multiple joint contractures, Chilblains, Cardiomegaly, Myositis, Hyp... |
ORPHA:51 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... |
OMIM:617506 |
| Wiedemann-Rautenstrauch Syndrome |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypoplasia of the thymus, Incre... |
OMIM:264090 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Subdural hemorrhage, Cardiomyopathy, Keratoconjunctivitis sicca, Retinal... |
ORPHA:90324 |
| Tetrasomy 9P |
|
Glue ear, Abnormal mitral valve morphology, Patent foramen ovale, Myositis, Pulmonary arterial hy... |
ORPHA:3310 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Ventricular septal defe... |
OMIM:607721 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Eczematoid dermatitis, Cardiomyopathy, Abnormal heart morphology, Decreased r... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Eczematoid dermatitis, Cardiomyopathy, Abnormal heart morphology, Decreased r... |
ORPHA:363958 |
| Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... |
ORPHA:1359 |
| Leukocyte Adhesion Deficiency |
|
Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Otitis media, Lymphocytic int... |
ORPHA:2968 |
| Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... |
ORPHA:1340 |
| Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Abnormality of thyroid physiology, Pancreatitis |
ORPHA:1830 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Ayme-Gripp Syndrome |
|
Camptodactyly, Pericarditis |
OMIM:601088 |
| Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Transient ischemic attack, Pineal cyst, Atrial septal defect |
OMIM:600268 |
| Noonan Syndrome |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Delayed menarche, Abnormal pulmonary valve morphology,... |
ORPHA:648 |
| Sarcoidosis |
|
Hepatic failure, Decreased liver function, Portal hypertension, Arrhythmia, Abnormal liver parenc... |
ORPHA:797 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neonatal hypoglycemia, Bradycardia |
OMIM:617248 |
| Neurooculorenal Syndrome |
|
Recurrent hypoglycemia, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral... |
OMIM:620305 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... |
ORPHA:2556 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:135500 |
| Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se... |
OMIM:243800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
| Williams Syndrome |
|
Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... |
ORPHA:904 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... |
ORPHA:3472 |
| Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Elevated circulating parathyroid hormone level, Rhabdomyosarcoma, Hypertrophi... |
ORPHA:97685 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... |
ORPHA:363700 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hypogonadism, Delayed puberty, Facial palsy |
ORPHA:1328 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Polysplenia, Cardiomyopathy, Diastasis recti, Splenomega... |
OMIM:312870 |
| Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Hypoglycemia |
ORPHA:3337 |
| Holoprosencephaly 1 |
|
Hypoglycemia, Single ventricle |
OMIM:236100 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Facial hypotonia, Neonatal hypoglycemia |
ORPHA:457359 |
| Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Hypogonadism, Ventricular septal defect, Synovitis, Atrial septal de... |
OMIM:163950 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Congenital hypothyroidism, ... |
OMIM:607872 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Delayed puberty, Atrial septal defect, Cardiomyopathy, Abnormal circulating thyroid hormone conce... |
ORPHA:480880 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Camptodactyly, Joint contracture of the hand, Hypertension, Hypoglycemia |
OMIM:201750 |
| Sotos Syndrome |
|
Ankle flexion contracture, Abnormal heart morphology, Hip contracture, Ventricular septal defect,... |
ORPHA:821 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... |
OMIM:216340 |
