Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... |
OMIM:232700 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Elevated circulating aspart... |
OMIM:619048 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... |
OMIM:615703 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hypertension, Loss of g... |
ORPHA:280356 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutaneous adipose tissue,... |
OMIM:612526 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss... |
OMIM:616516 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hypertension, Lipoatrophy, Skeletal muscl... |
OMIM:613877 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid concentration, Lower limb... |
OMIM:615980 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, De... |
OMIM:618235 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Gait di... |
OMIM:618400 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
OMIM:616201 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... |
OMIM:603552 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia |
OMIM:615238 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:615395 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Atrial fibrillation, Increased variability in muscle ... |
OMIM:613327 |
Lipe-Related Familial Partial Lipodystrophy |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased adipo... |
ORPHA:435660 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Abnormal ci... |
OMIM:232500 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio |
OMIM:614662 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss... |
ORPHA:435651 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... |
OMIM:300635 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... |
OMIM:278000 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspart... |
OMIM:615558 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Decreased act... |
OMIM:618234 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... |
OMIM:212138 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegal... |
ORPHA:2348 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Myopathy, Cirr... |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Loss of facial adipose tissue, Hepatic ste... |
ORPHA:79083 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalani... |
OMIM:614702 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Adip... |
ORPHA:528 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, Hepatic steatosis, Loss... |
OMIM:604367 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:79085 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... |
OMIM:619013 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... |
OMIM:151660 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Hepatic steatosis, Myopathy |
ORPHA:79087 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglo... |
ORPHA:95717 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:614025 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly |
OMIM:610539 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat... |
OMIM:615381 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... |
ORPHA:42 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, At... |
OMIM:608776 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death |
OMIM:615918 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Hepatic stea... |
ORPHA:26792 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... |
ORPHA:280365 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hyper... |
OMIM:619386 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear... |
OMIM:212140 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... |
ORPHA:369840 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:369 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... |
OMIM:277460 |
Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:620357 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre... |
OMIM:600649 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Cirr... |
OMIM:606069 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... |
ORPHA:139507 |
Lipoyltransferase 1 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:616299 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... |
ORPHA:66529 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... |
ORPHA:247598 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Elevate... |
OMIM:618805 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Decreased activity of the pyruvate dehydr... |
OMIM:616277 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Cardiomyopathy, Generalized lipodystrophy, Abnormal car... |
ORPHA:79086 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... |
OMIM:611705 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia... |
OMIM:614654 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficul... |
ORPHA:98907 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Acro... |
OMIM:614407 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... |
OMIM:610717 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... |
OMIM:232400 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... |
OMIM:617872 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... |
ORPHA:412 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... |
ORPHA:1414 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia |
OMIM:616276 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Ddost-Cdg |
|
Hepatic steatosis, Lipodystrophy, Failure to thrive, Elevated circulating hepatic transaminase co... |
ORPHA:300536 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
ORPHA:158057 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c... |
OMIM:614582 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... |
OMIM:201475 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... |
ORPHA:2088 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Failure to thrive, Inguinal hernia, Pulmonary arterial hypertension, Dec... |
OMIM:619272 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta... |
OMIM:610198 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Decreased HDL cholesterol conce... |
OMIM:618620 |
Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ... |
ORPHA:95716 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopath... |
ORPHA:70472 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Large for gestational age, Bradycardia, Prolonged neonatal jaundice, Macroglossia |
ORPHA:226313 |
Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... |
OMIM:601005 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... |
OMIM:616834 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:79303 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:264580 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Knee flexion contra... |
OMIM:618156 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
OMIM:201450 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling, Elevat... |
OMIM:615595 |
Glutamine Deficiency, Congenital |
|
Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture |
OMIM:610015 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Ataxia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circu... |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:212065 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Hypocholesterolemia, Patent foramen ovale, Atrial septal defect, Small for ges... |
OMIM:610883 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Lethargy, Transient hyp... |
ORPHA:156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Wilson Disease |
|
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:905 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Increased myocardial glycogen content, Ventricular fibrillat... |
OMIM:261740 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... |
OMIM:264470 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass... |
ORPHA:263297 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
ORPHA:650 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Elevated circulating hepatic transaminase concentration, Hyperlipidemia |
ORPHA:2089 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia |
ORPHA:70587 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... |
ORPHA:98908 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... |
OMIM:609286 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Ataxia |
ORPHA:79476 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... |
OMIM:614921 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated... |
ORPHA:79240 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g... |
OMIM:261750 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Obesity, Partial atrioventricular canal defect, Hepatic steatosis, Ventri... |
OMIM:615996 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Hepatic steatosis |
ORPHA:210548 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... |
ORPHA:101016 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cholestasis, Acute hepatic failure, Decreased activity of mitochondrial complex IV, Hepatic steat... |
OMIM:256810 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... |
ORPHA:52430 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... |
OMIM:618775 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... |
ORPHA:90674 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
ORPHA:98855 |
Obesity And Hypopigmentation |
|
Obesity, Hepatic steatosis |
OMIM:620195 |
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 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance |
OMIM:620639 |
Seckel Syndrome 10 |
|
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... |
OMIM:617253 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... |
ORPHA:860 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... |
ORPHA:14 |
Focal Segmental Glomerulosclerosis 1 |
|
Ascites, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Sepsis In Premature Infants |
|
Hypotension, Decreased liver function, Splenomegaly, Cyanosis, Decreased body weight, Hepatomegal... |
ORPHA:90051 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th... |
ORPHA:298 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Genera... |
OMIM:608594 |
Necrotizing Enterocolitis |
|
Hypotension, Ascites, Shock, Abnormal heart morphology, Cyanosis, Hyponatremia, Peritonitis, Brad... |
ORPHA:391673 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Hypertrophic cardiomyopathy |
OMIM:618810 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Dpm1-Cdg |
|
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Fa... |
ORPHA:79322 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... |
OMIM:210500 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... |
ORPHA:439232 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Obesity, Hyperlipidemia, Mitral regurgitation, Hepatic steatosis, Ventricul... |
ORPHA:254346 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... |
OMIM:269700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... |
OMIM:608836 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
ORPHA:98863 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,... |
OMIM:231530 |
Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
ORPHA:98853 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas... |
ORPHA:228308 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ... |
ORPHA:189427 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ... |
OMIM:617397 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... |
OMIM:500013 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly |
ORPHA:79477 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... |
ORPHA:101330 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Failure to thrive, Hepatic steatosis, Inguinal hernia, Mitral valve prolapse,... |
OMIM:236200 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglo... |
ORPHA:90673 |
Reni Syndrome |
|
Ataxia, Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypertriglyc... |
OMIM:617591 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli... |
OMIM:261680 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
ORPHA:158048 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, De... |
OMIM:614924 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Failure to thrive in infancy, Cholestasis, Tricuspid re... |
ORPHA:746 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... |
OMIM:619481 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:619487 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:275761 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Werner Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c, Elevated ... |
OMIM:277700 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Elevated circulatin... |
ORPHA:17 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex I |
OMIM:615578 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Cystathioninemia, Failure to thrive, Hypomethioninemia, Pulmonary arterial hypertens... |
OMIM:277400 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... |
ORPHA:1329 |
Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Bive... |
ORPHA:79324 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular... |
OMIM:616672 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... |
OMIM:615486 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Ataxia, Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid con... |
ORPHA:77293 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Neonatal death, Lethargy, Stillbirth, Hepatomegaly |
OMIM:614922 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Macroglossia |
ORPHA:2430 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... |
ORPHA:2298 |
Smith-Magenis Syndrome |
|
Gait disturbance, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperp... |
ORPHA:94093 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... |
OMIM:611126 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Myopathy |
ORPHA:977 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Limb-girdle muscular dystrophy, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating c... |
ORPHA:96180 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Congenital contracture, Decreased activity of mitochondrial complex IV, Sinus bradycardia, Joint ... |
OMIM:618397 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Multiple joint contra... |
ORPHA:2959 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
D-Glyceric Aciduria |
|
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Failure to thrive, Bra... |
OMIM:220120 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema... |
ORPHA:2137 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Limb hypertonia, Congenital foot contractures, Bradycardia |
ORPHA:565624 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic glycogen content... |
ORPHA:79259 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexio... |
OMIM:614653 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Lethargy, Acute hepatic steatosis |
OMIM:210200 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Skelet... |
OMIM:616263 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste... |
ORPHA:348 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis |
OMIM:619273 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... |
OMIM:231680 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia |
ORPHA:31150 |
Mody |
|
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... |
ORPHA:552 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Alstrom Syndrome |
|
Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,... |
OMIM:203800 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Asci... |
OMIM:619573 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability to walk, H... |
OMIM:615356 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Jaundice, Tachycardia, Diffuse alveolar hemorrhage, Ascites, Bundle branch block, H... |
ORPHA:99827 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Short Syndrome |
|
Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia |
ORPHA:73272 |
Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Failure to thri... |
ORPHA:39812 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Chédiak-Higashi Syndrome |
|
Ataxia, Elevated circulating hepatic transaminase concentration, Decreased liver function, Increa... |
ORPHA:167 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re... |
ORPHA:90363 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Congenital contracture, Annular pancreas, Cardiomegaly, Severe failure to thrive,... |
ORPHA:97297 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Weight loss, Bradycardia |
ORPHA:221098 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial sept... |
OMIM:617303 |
Barth Syndrome |
|
Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morphology |
OMIM:302060 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Lujo Hemorrhagic Fever |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Shock, Myocarditis, Bradyca... |
ORPHA:319213 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal ... |
ORPHA:436271 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decrea... |
OMIM:261515 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc... |
OMIM:619377 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... |
ORPHA:157 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
Gaisböck Syndrome |
|
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre... |
ORPHA:90041 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Common atrium, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
Dilated Cardiomyopathy With Ataxia |
|
Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... |
ORPHA:66634 |
Glycerol Kinase Deficiency |
|
Hyperglycerolemia, Lethargy, Chronic pancreatitis, Hypertriglyceridemia |
OMIM:307030 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyp... |
ORPHA:20 |
H Syndrome |
|
Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia |
ORPHA:168569 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... |
OMIM:618329 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Rhabdomyolysis, Hypokalemia, Weight loss, Tachycardia |
OMIM:188580 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... |
OMIM:277900 |
Sheehan Syndrome |
|
Obesity, Palpitations, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotensio... |
ORPHA:91355 |
Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Hyperuricem... |
OMIM:232200 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate... |
ORPHA:263455 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Pearson Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypomag... |
ORPHA:699 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
OMIM:124000 |
Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Splenomegal... |
OMIM:232220 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Generalized lip... |
OMIM:619127 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... |
OMIM:613658 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Cholestatic liver disease, Failure to thrive, Hypertrophic cardiomyopathy, Hypoc... |
OMIM:270400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... |
ORPHA:404454 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... |
ORPHA:769 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunc... |
ORPHA:99826 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Hepatic steatosis, Congestive heart failure |
OMIM:616271 |
Whipple Disease |
|
Hepatomegaly, Splenomegaly, Insulin resistance |
ORPHA:3452 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Atrial septal defect, Failure to thrive, Ventricular septal defect |
OMIM:244450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of facial musc... |
OMIM:220110 |
Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H... |
OMIM:229600 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... |
OMIM:118450 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... |
ORPHA:391665 |
Yellow Fever |
|
Pancreatic hyperplasia, Shock, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:99829 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hyperbilirubinemia, Bradycardia, Macroglossia, Increased circulating thyroglobu... |
OMIM:218700 |
Werner Syndrome |
|
Insulin resistance, Type II diabetes mellitus |
ORPHA:902 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... |
ORPHA:137675 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypertrophic c... |
OMIM:615846 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglossia, Overweight |
ORPHA:226307 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia |
ORPHA:813 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Prader-Willi Syndrome |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:176270 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cardiomyopathy |
ORPHA:445038 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90154 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Diabetes mellitus |
OMIM:616541 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Skeletal muscle atrophy, Fa... |
ORPHA:79474 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failure, Mitochondrial s... |
OMIM:606812 |
Ogden Syndrome |
|
Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Premature ventricular contract... |
OMIM:300855 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Diabetes mellitus, Biliary tract abnormality |
OMIM:209900 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Inguinal hernia |
OMIM:223370 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Increased hepatic ech... |
OMIM:619525 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Increased muscle lipid content, Elevated circulating creatine kinas... |
ORPHA:565612 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplasia of the diap... |
OMIM:614437 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, Hepatomegaly, H... |
OMIM:232240 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,... |
OMIM:256040 |
Lipodystrophy, Familial Partial, Type 7 |
|
Gait ataxia, Dysmetria, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Dysdi... |
OMIM:606721 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Azoospermia, Hepatic steatosis, Elevated... |
OMIM:210900 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microves... |
OMIM:618278 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Failure to thrive, Enamel hypoplasia, Bradycardia, Abnormal blood ion con... |
ORPHA:79404 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Large for gestational age, Hip contracture, Knee flexion contracture, ... |
OMIM:300868 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Mitral atresia, Decreased activity of mitochondri... |
OMIM:220111 |
Bloom Syndrome |
|
Insulin resistance, Azoospermia, Diabetes mellitus, Oligozoospermia |
ORPHA:125 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr... |
OMIM:203700 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Failure to thrive, Bradycardia |
OMIM:617248 |
Gitelman Syndrome |
|
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Type II diabetes mellitus, Mat... |
ORPHA:358 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Fasting hypoglycemia |
ORPHA:96182 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hyperinsulinemia, Recurrent i... |
ORPHA:508 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased HDL choleste... |
ORPHA:110 |
Garg-Mishra Progeroid Syndrome |
|
Microvesicular hepatic steatosis |
OMIM:620601 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce... |
ORPHA:980 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Hepatic st... |
OMIM:619503 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Azotemia, Hepatic steatosis, Abdominal obesity |
OMIM:619321 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Abnormal abdomen m... |
OMIM:619475 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Congen... |
ORPHA:3455 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... |
ORPHA:99226 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormal he... |
ORPHA:1606 |
Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly |
OMIM:243910 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Hyperlipidemia |
ORPHA:1830 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Ascites, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype... |
ORPHA:273 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, ... |
OMIM:618280 |
Digeorge Syndrome |
|
Cholelithiasis, Umbilical hernia, Tetralogy of Fallot, Obesity, Inguinal hernia, Hypocalcemia, He... |
OMIM:188400 |
Wiedemann-Rautenstrauch Syndrome |
|
Truncal ataxia, Hypertriglyceridemia |
OMIM:264090 |
Alström Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Oligozoospermia, Hepatomegaly, Abnormal coronar... |
ORPHA:64 |
Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Sinus bradycar... |
OMIM:142900 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Choreoathetosis |
OMIM:241080 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance |
ORPHA:740 |
Fabry Disease |
|
Left ventricular hypertrophy, Hyperlipidemia, Abnormal circulating lipid concentration |
ORPHA:324 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Choreoathetosis |
ORPHA:3464 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia |
ORPHA:293987 |
Pmm2-Cdg |
|
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy... |
ORPHA:79318 |