Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... |
OMIM:232700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Anorexia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619386 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... |
ORPHA:293964 |
Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Myopathy, Hypertriglyceridemia |
ORPHA:366 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... |
ORPHA:26792 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, 3-Methylglutaconic aciduria |
ORPHA:67046 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction |
OMIM:606528 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Myopathy, Elevated circulating creatine kinase concentration, Fatty replacement... |
OMIM:255100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... |
OMIM:619048 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hepatic s... |
OMIM:615703 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... |
ORPHA:369 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... |
ORPHA:324575 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... |
OMIM:608709 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... |
OMIM:239510 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fo... |
OMIM:618400 |
Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... |
OMIM:239500 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:79087 |
Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... |
ORPHA:446 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... |
OMIM:201450 |
Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Organic aciduria, Hypoglycemia |
ORPHA:35 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Saccharopinuria |
|
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... |
OMIM:268700 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... |
OMIM:620211 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria, Hypoglycemia, Lower limb muscle weakness, Elevated circulating aspartate aminotransfera... |
OMIM:617950 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... |
OMIM:605911 |
Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Postprandial hyperglyc... |
ORPHA:2088 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... |
OMIM:222100 |
Dibasic Amino Aciduria I |
|
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hyperammonemia, Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia |
ORPHA:6 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Distal lowe... |
ORPHA:171706 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Rena... |
OMIM:261680 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Hyp... |
OMIM:232400 |
Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... |
OMIM:617872 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abno... |
OMIM:615980 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... |
OMIM:619468 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... |
ORPHA:228305 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... |
OMIM:612526 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... |
ORPHA:276556 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra... |
ORPHA:42 |
Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... |
OMIM:620357 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... |
ORPHA:2089 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... |
ORPHA:209919 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... |
OMIM:616026 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hypoglycemia, Di... |
ORPHA:289504 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Calf muscle hypertrophy, Hypertriglyceride... |
ORPHA:280356 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Recurrent hypoglycemia, Ele... |
OMIM:212140 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... |
OMIM:231530 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
2P21 Microdeletion Syndrome |
|
Cystinuria, Hypocalcemia, Hypoglycemia, Nephrolithiasis |
ORPHA:163693 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... |
OMIM:261750 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... |
OMIM:231100 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... |
OMIM:201475 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Hypoglycemia |
OMIM:262400 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... |
OMIM:603358 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co... |
OMIM:619355 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine, Camptodactyly of toe, Camptodactyly of finger |
ORPHA:1325 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... |
ORPHA:156 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... |
ORPHA:263455 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Elevated circulating hepatic tr... |
ORPHA:26791 |
Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Ragged-red muscle fibers, Hypocalcemia, Nephrolithiasis, Polyphagia, Cystin... |
OMIM:606407 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Generalized amyotrophy, Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Hydroxykynureninuria |
|
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level |
OMIM:236800 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia,... |
OMIM:210200 |
Lipoyltransferase 1 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:616299 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con... |
ORPHA:369840 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Myopathy, Cirrhosis, Hyperactivity, Hype... |
ORPHA:363400 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Galactokinase Deficiency |
|
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, 3-Methylglutaconic acidu... |
OMIM:618120 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... |
OMIM:606069 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
Cystinosis |
|
Aminoaciduria, Nephropathy, Type I diabetes mellitus, Polydipsia, Renal insufficiency, Portal hyp... |
ORPHA:213 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:608836 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Aggressive behavior, Elevated circulating tiglylglycine concentration, Restlessness... |
OMIM:300438 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating hepatic transami... |
ORPHA:264580 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxylic aciduria, Hep... |
OMIM:212138 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Methylmalonic aciduria, Hypoglycemia, Elevated circulating aspartate ami... |
OMIM:245400 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function, 3-Methylglutaconic aciduria |
ORPHA:67048 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Intrahepatic cholestasis, Hypouricemia, Ke... |
OMIM:227810 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... |
OMIM:251880 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... |
OMIM:613070 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... |
OMIM:264470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia |
ORPHA:2158 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... |
ORPHA:79240 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... |
OMIM:266150 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... |
OMIM:620454 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... |
OMIM:278000 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Myopathy, Splenomegal... |
ORPHA:79083 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria, Limb muscle weakness, Aggressive behavior, Facial palsy, Dysphagia, Generalized... |
OMIM:614707 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... |
ORPHA:882 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:99901 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo... |
OMIM:210210 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Mehmo Syndrome |
|
Micropenis, Aggressive behavior, Hypoglycemia |
OMIM:300148 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... |
ORPHA:79303 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperprolinemia, Hyperalaninemia, Lacticaciduria |
ORPHA:79246 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... |
OMIM:232200 |
East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscl... |
ORPHA:199343 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Dicarboxylic ... |
ORPHA:228308 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... |
OMIM:246900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Hepatic steatosis, Myopathy, Splenomegaly, Glomerulopathy, Pancreatitis, Hype... |
ORPHA:2348 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia |
ORPHA:147 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Generalized aminoaciduria, Chronic kidney disease, Hypouricemia, Decreas... |
ORPHA:3337 |
Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Hypospadias, Hypoglycemia |
OMIM:201910 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa... |
ORPHA:53693 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature... |
OMIM:618811 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertr... |
ORPHA:528 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Mody |
|
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Pancreatic hypoplasia, Insulin-resistan... |
ORPHA:552 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Hypoketotic h... |
ORPHA:157 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... |
ORPHA:567548 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice, Hepatosplenomegaly, Myopathy |
ORPHA:33574 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Hepatomegaly, Splenomegaly |
ORPHA:417 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... |
ORPHA:435660 |
Galactosemia I |
|
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu... |
OMIM:230400 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Hypoglycemia |
OMIM:618958 |
Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinemia, Hypera... |
OMIM:606054 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase c... |
ORPHA:94086 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Limb hypertonia, Hepatic steatosis |
OMIM:615918 |
Reni Syndrome |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... |
OMIM:617575 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Muscular dystrophy |
OMIM:204730 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Calf muscle hypertrophy, Hy... |
ORPHA:435651 |
Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficien... |
OMIM:604387 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c... |
OMIM:615595 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Abnormal circulat... |
ORPHA:35706 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... |
ORPHA:436271 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Hepatomegaly, Lacticaciduria, Campt... |
OMIM:604273 |
Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... |
OMIM:248600 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Distal amyotrophy, Dysphagia, Limb hypertonia, Lacticaciduria |
OMIM:618247 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... |
OMIM:600649 |
Dysbetalipoproteinemia |
|
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholest... |
ORPHA:412 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Oliguria, Elevated circulating... |
ORPHA:159 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E... |
OMIM:615381 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... |
OMIM:262190 |
Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Elevated circulating hepatic transamin... |
OMIM:229600 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... |
OMIM:266900 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin... |
ORPHA:416 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Oral aversion, Hyperuricemia, Anorexia, H... |
ORPHA:134 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ... |
OMIM:619013 |
Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Hand muscle weakness, G... |
ORPHA:98908 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Urinary bladder sphincter dysfun... |
ORPHA:52430 |
Wilson Disease |
|
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:905 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... |
ORPHA:348 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Hawkinsinuria |
|
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Restlessness, 4-hydroxyphenylac... |
OMIM:140350 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Ketonuria, Inflexible adherence to routines |
OMIM:608049 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Abnormality of end... |
ORPHA:93111 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria |
OMIM:606996 |
Dilated Cardiomyopathy With Ataxia |
|
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Elevated circula... |
ORPHA:66634 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Prolonged neonatal jaundice, Neonatal hypoglycemia, Microphallus, Decreased muscle mass |
ORPHA:631 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy... |
OMIM:611126 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia, Abnormality of the lower urinary tract, Dysphagia, Abnormal concent... |
ORPHA:391428 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... |
OMIM:617093 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia |
OMIM:248360 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Nephropathy, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:613404 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Hypophosphatemia, Pol... |
OMIM:239200 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Elevated circulating aspartate aminotransferase concentration, 3-Methy... |
OMIM:610198 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Neonatal hypoglycemia, Diastasis recti, Hypoglycemia |
ORPHA:231140 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac... |
OMIM:615238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr... |
OMIM:124000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f... |
OMIM:615453 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:480864 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Cirr... |
ORPHA:470 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... |
ORPHA:79085 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia, Hyperprolinemia, Lacticaciduria |
OMIM:619003 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Hepat... |
OMIM:276700 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:616878 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Hepatic steatosis |
OMIM:615996 |
Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... |
ORPHA:71 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
D-Glyceric Aciduria |
|
Aminoaciduria, Hypoglycemia, Tongue thrusting, Micropenis, Elevated circulating D-glyceric concen... |
OMIM:220120 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Chronic kidney disease, Renal phosphate wasting, Proximal tubulopathy, Polydipsia,... |
ORPHA:411634 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia |
OMIM:614736 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Hyperalaninemia, Hyperammonemia, 3-Methylglutaconic aciduria |
OMIM:614739 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Hypoglycemia, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammon... |
OMIM:251000 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... |
OMIM:277900 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating S-adenosyl-L-h... |
OMIM:614300 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:609015 |
Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, Hyperargini... |
OMIM:207800 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating propionylcarnitine concentr... |
OMIM:251110 |
Pyridoxine-Dependent Epilepsy |
|
Restlessness, Hypoglycemia |
ORPHA:3006 |
Seckel Syndrome 10 |
|
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... |
OMIM:617253 |
Laron Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Attention deficit hyperactivity disorder, Penile freckling, Hepatic steatosis |
ORPHA:210548 |
Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating h... |
OMIM:619487 |
Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Head-banging, Onychotillomania, Self-mutilation, Abnormal rena... |
OMIM:182290 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Abnormal renal collecting system morphology, Skel... |
ORPHA:17 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased intramusc... |
OMIM:151660 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia |
OMIM:607250 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... |
OMIM:620300 |
Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts |
OMIM:613824 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... |
ORPHA:97279 |
Central Diabetes Insipidus |
|
Hyponatremia, Nocturia, Polydipsia, Anorexia |
ORPHA:178029 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hepatomegaly, E... |
OMIM:614582 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Foot dorsiflexor ... |
ORPHA:298 |
Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hep... |
OMIM:231670 |
Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... |
OMIM:616730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... |
OMIM:220110 |
Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Hypoglycemia, Anorexia, Hyperglycemia, Rec... |
ORPHA:3008 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Acute rhabdomyolysis, Finger joint contracture, Hypoglycemia, Flexion contracture of toe |
ORPHA:48431 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hyperammonemia, Hypoglycemia |
OMIM:620137 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Aggressive behavior, Limb hypertonia, Severe temper tantru... |
OMIM:617710 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy |
OMIM:618234 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami... |
OMIM:615486 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... |
ORPHA:320 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Dicarboxylic aciduria, Attention deficit hyperactivity disorder, Ketotic hypoglyc... |
OMIM:620646 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonatal hypoglycemia, ... |
OMIM:619046 |
Tyrosinemia, Type Iii |
|
Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro... |
OMIM:276710 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... |
OMIM:614921 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... |
OMIM:232220 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia, Methion... |
OMIM:236200 |
Leigh Syndrome |
|
Generalized aminoaciduria, Hepatic failure, Skeletal muscle atrophy, Methylmalonic aciduria, Hypo... |
ORPHA:506 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Elevated circulating hepatic transaminase concentration, Hepatic ste... |
ORPHA:300536 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp... |
OMIM:617049 |
Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n... |
ORPHA:199296 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
Infantile Liver Failure Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... |
OMIM:616483 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Dysphagia, Hyperammonemia, Hypoglycemia |
OMIM:618253 |
Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypoglycemia, Dysphagia, Limb hypertonia, Joint contracture |
ORPHA:35708 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypercalciuria, P... |
OMIM:613677 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent... |
ORPHA:79096 |
Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level |
OMIM:201400 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria |
OMIM:618857 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Myopathy... |
OMIM:614922 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... |
ORPHA:230 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... |
OMIM:608594 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Re... |
ORPHA:20 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Polydipsia, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hy... |
OMIM:612780 |
Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Attention... |
ORPHA:79239 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Gluco... |
ORPHA:189427 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Hepatocellular ne... |
OMIM:256810 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Hepatomegal... |
OMIM:219800 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... |
OMIM:605711 |
Adrenomyodystrophy |
|
Myopathy, Abnormality of the urinary system, Hepatic steatosis, Megacystis |
ORPHA:977 |
19P13.12 Microdeletion Syndrome |
|
Self-injurious behavior, Hypospadias, Hyperlipidemia, Hepatic steatosis, Hyperactivity, Arthrogry... |
ORPHA:254346 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
OMIM:618329 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H... |
ORPHA:445038 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas... |
OMIM:232240 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Temple Syndrome |
|
Polyphagia, Type II diabetes mellitus, Recurrent hypoglycemia |
ORPHA:254516 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder girdle ... |
ORPHA:98907 |
Solitary Fibrous Tumor |
|
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of th... |
ORPHA:2126 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... |
OMIM:269700 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ... |
ORPHA:263501 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Polydipsia, Hydroureter, Functional abnormality of the bladder, Renal insuffic... |
ORPHA:223 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Long penis, Skeletal muscle atrophy, Cholestasis, H... |
OMIM:246200 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... |
OMIM:610717 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Nephritis, Insulin resistance, Biliary cirrhosis, Hypotriglyceridemia... |
ORPHA:2298 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... |
OMIM:619418 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Glucocortocoid-insensitive... |
ORPHA:251274 |
Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Decreased circulating cortisol ... |
ORPHA:361 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
Immunodeficiency 10 |
|
Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Myopathy, Hepatomegaly, Nephrotic... |
OMIM:612783 |
Congenital Macroglossia |
|
Macroglossia, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
Dpm1-Cdg |
|
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:79322 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Aggressive behavior, Pica, Organic aciduria, Abnormal circulating acylcarnitine concentration |
OMIM:620191 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... |
OMIM:615438 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Attention deficit hyperactivity di... |
ORPHA:73272 |
Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Hepatic steatosis... |
OMIM:243910 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... |
ORPHA:411629 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Hyperhomocystinemia, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine... |
OMIM:251120 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia |
OMIM:608688 |
Acute Adrenal Insufficiency |
|
Hypoglycemia, Renal insufficiency, Hyperuricemia, Hyponatremia, Salt craving, Decreased urinary p... |
ORPHA:95409 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased urinary glycerol |
OMIM:229700 |
Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Nephroblastoma, Fasting hypoglycemia, Urethral valve, Hypospadias, Con... |
OMIM:180860 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease |
ORPHA:5 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia |
ORPHA:23 |
Bachmann-Bupp Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
Shigellosis |
|
Acute kidney injury, Hepatic failure, Hypoglycemia, Urethritis, Cholestasis, Rhabdomyolysis, Hypo... |
ORPHA:810 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
Pearson Syndrome |
|
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnormality of ... |
ORPHA:699 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5... |
OMIM:613550 |
Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... |
ORPHA:2137 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased HDL cholesterol concentration, Hepatic steatosis, Myopathy, Splenom... |
ORPHA:280365 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Anorexia |
ORPHA:79242 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... |
OMIM:212065 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hyperammonemia, Hypoglycemia |
OMIM:614702 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration... |
OMIM:602522 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... |
OMIM:617600 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy |
OMIM:275630 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Lower limb muscle weakness, Rhabdomyolysis, 3-Methylglutaconic aciduria, Elevated circ... |
OMIM:251900 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Dent Disease 1 |
|
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Gitelman Syndrome |
|
Hypocalciuria, Polydipsia, Renal magnesium wasting, Enuresis, Hypomagnesemia, Rhabdomyolysis, Hyp... |
OMIM:263800 |
Temple Syndrome |
|
Flexion contracture, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglycerid... |
OMIM:616222 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... |
OMIM:618839 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lower limb muscle weakness, Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, Rhabdomyolysis, ... |
ORPHA:746 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:275761 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Decreased liver function, Hypoglycemia, Elevated circulating aspartate a... |
OMIM:608779 |
Cog8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia |
ORPHA:95428 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Glucocor... |
ORPHA:231580 |
Tyrosinemia, Type Ii |
|
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia |
OMIM:276600 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hypoglycemia, Ragged-red muscle fibers, Hyperprolinemia, Hyperalaninemia, Lacticaciduria |
OMIM:620451 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Type 2 muscle fiber predominance, Organic aciduria, Skeletal muscle atrophy... |
OMIM:619743 |
Dent Disease |
|
Aminoaciduria, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosi... |
ORPHA:1652 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico... |
OMIM:619377 |
Alstrom Syndrome |
|
Nephritis, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes me... |
OMIM:203800 |
Glucocorticoid Deficiency 3 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:609197 |
D-Lactic Aciduria With Gout |
|
Elevated urine D-lactate level, Lacticaciduria |
OMIM:245450 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis, 3-Methylglutaconic aciduria |
OMIM:616271 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c... |
ORPHA:431361 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Attention deficit hyperactivity disorder, Hypospadias, Microphallus |
ORPHA:397590 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Houge-Janssens Syndrome 1 |
|
Facial hypotonia, Hypoglycemia, Congenital muscular torticollis |
OMIM:616355 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Hypoalbuminemia, Splenomegaly, Prote... |
OMIM:617303 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Abnormality of the ureter, Renal hypoplasia/aplasia, Attention deficit h... |
ORPHA:819 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... |
ORPHA:2457 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria |
ORPHA:95626 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Hepatitis, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circula... |
ORPHA:199299 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co... |
OMIM:208920 |
Long-Olsen-Distelmaier Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:620609 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, 3-hydroxydicarb... |
OMIM:252010 |
Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia |
OMIM:266510 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Gitelman Syndrome |
|
Type II diabetes mellitus, Rhabdomyolysis, Urinary incontinence, Tubulointerstitial nephritis, Re... |
ORPHA:358 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Nocturia, Elevated... |
OMIM:223360 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... |
OMIM:618156 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Neonatal hypoglycemia, Hypospadias, Hyperactivity, Diastasis recti |
ORPHA:457485 |
Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:557000 |
Addison Disease |
|
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Decreased urin... |
ORPHA:85138 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Polydipsia, Insulin... |
ORPHA:769 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia |
OMIM:615962 |
Brain-Lung-Thyroid Syndrome |
|
Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking behavior, Hyperact... |
ORPHA:209905 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
Isolated Complex I Deficiency |
|
Proximal tubulopathy, Hypoglycemia, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus, Ab... |
ORPHA:2609 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Polydipsia, Polyuria, Megacystis |
OMIM:125800 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Hypoglycemia, Contracture of the proximal interphalangeal joint of the ... |
ORPHA:457279 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Polydipsia, Polyuria, Megacystis |
OMIM:304800 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Renovascular hypertension, Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Glycerol Kinase Deficiency |
|
Muscular dystrophy, Hypoglycemia, Increased urinary glycerol, Chronic pancreatitis, Myopathy, Hyp... |
OMIM:307030 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation,... |
OMIM:620423 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Polydipsia, Nephrolithiasis, Polyuria, Achilles tendon calcification, Hypercal... |
OMIM:617994 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Left ventricular noncompaction, Left ventricular hypertrophy, Lacticaciduria, Hepatome... |
OMIM:619167 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... |
OMIM:616263 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Addictive alcohol use, Hypercholesterolemia, Left ventricular hypertrophy |
ORPHA:90065 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia |
OMIM:607398 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia, Decreased circulating cortisol level |
OMIM:600955 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Elevated circulating hepati... |
ORPHA:404454 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... |
ORPHA:469 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ... |
OMIM:207900 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hep... |
ORPHA:2959 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:391408 |
Polyendocrine-Polyneuropathy Syndrome |
|
Proximal muscle weakness in lower limbs, Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia |
ORPHA:453533 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Hyperglycinemia, Hyperammonemia, Elevated urine 3-hydroxypropi... |
OMIM:251100 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Helix Syndrome |
|
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... |
OMIM:617671 |
Tenorio Syndrome |
|
Macroglossia, Hypoinsulinemia, Enuresis, Hypoglycemia |
OMIM:616260 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating palmitoleylcarnitine concen... |
ORPHA:79282 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Ketonuria |
ORPHA:1399 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Hypoglycemia |
OMIM:616638 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Camptoda... |
OMIM:309000 |
D-Bifunctional Protein Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... |
OMIM:261515 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, Skeletal muscle atrophy, Alpha-aminoadipic aciduria, 3-Met... |
OMIM:620089 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Cholera |
|
Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H... |
ORPHA:173 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Limb hypertonia, Hypoglycemia |
OMIM:617190 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Nemaline bodies, Hypoglycemia, Elbow contracture |
OMIM:620275 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Dysphagia, Fasting hypoglycemia |
ORPHA:25 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Recurrent hypoglycemia |
OMIM:616817 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperglycemia, Hyperinsulinemia, ... |
OMIM:248370 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... |
OMIM:619991 |
Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia, Fetal pyelectasis, Hepatic steatosis |
ORPHA:96168 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria |
ORPHA:30 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:202200 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac... |
OMIM:614946 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
Mirage Syndrome |
|
Hypoglycemia, Microphallus, Recurrent urinary tract infections, Hyponatremia, Hypoplastic spleen,... |
OMIM:617053 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fib... |
OMIM:614924 |
Timothy Syndrome |
|
Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Whipple Disease |
|
Insulin resistance, Polydipsia, Splenomegaly, Myositis, Hyponatremia, Anorexia, Hepatomegaly |
ORPHA:3452 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Polydipsia, Hyperaldosteronism, Nephrolithiasis |
ORPHA:369929 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma c... |
OMIM:620358 |
Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Polydipsia, Nephrocalcinosi... |
OMIM:241200 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Org... |
OMIM:253270 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ... |
OMIM:203700 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... |
ORPHA:99885 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Limb hypertonia, Organic aciduria |
ORPHA:99742 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Skeletal muscle atr... |
ORPHA:508 |
Sotos Syndrome |
|
Glucose intolerance, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormality o... |
OMIM:117550 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Wolfram Syndrome |
|
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, A... |
ORPHA:3463 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Renal s... |
ORPHA:90791 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Micropenis, Hypospadias, Hypocalcemia, Hypoglycemia |
OMIM:607143 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Renal hypoplasia, Ketonuria |
OMIM:619053 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Hype... |
OMIM:176270 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Polydipsia, Splenomegaly, Polyphagia, Hy... |
ORPHA:525731 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Ragged-red muscle fibers, Multiple glomerular cysts, Abnormal renal tubule morph... |
ORPHA:255210 |
Basilicata-Akhtar Syndrome |
|
Camptodactyly, Neonatal hypoglycemia |
OMIM:301032 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia... |
ORPHA:116 |
Perlman Syndrome |
|
Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Congenital diaphragmatic he... |
OMIM:267000 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertrigly... |
ORPHA:90041 |
Citrullinemia, Classic |
|
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, Elev... |
OMIM:215700 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ... |
ORPHA:99826 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
OMIM:613658 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Limb hypertonia, Neonatal hypoglycemia, Dysphagia, Generalized amyotrophy |
ORPHA:572798 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Hypercalcemia, Renal in... |
ORPHA:99880 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Decreased muscle mass, Horseshoe kidney, Oral aversion, Fasting hypoglycemia,... |
ORPHA:96182 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Skeletal muscle atrophy, Increased circulating ferritin concentrat... |
OMIM:222700 |
Parathyroid Carcinoma |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Hypercalcemia, Renal in... |
ORPHA:143 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Silver-Russell Syndrome |
|
Insulin resistance, Abnormality of the urinary system, Decreased muscle mass, Recurrent hypoglyce... |
ORPHA:813 |
Histidinemia |
|
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia |
OMIM:235800 |
Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat... |
OMIM:118450 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hypospadias, Elevated circulating hepatic transaminase concentration, Viole... |
OMIM:619475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Microvesicular hepatic steatosis, Left ve... |
OMIM:220111 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hepatomegal... |
OMIM:301066 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria |
OMIM:618250 |
Polyendocrine-Polyneuropathy Syndrome |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia |
OMIM:616113 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Self-injurious be... |
ORPHA:534 |
Acute Liver Failure |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglyc... |
ORPHA:90062 |
Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly, Duplicated collecting system, Hypospadias, Renal agen... |
OMIM:270400 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia |
ORPHA:90790 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transa... |
ORPHA:110 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Hyperkalemi... |
ORPHA:168558 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Nephrocalcinosis, Joint contracture |
OMIM:618005 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Abnormal circulating thyro... |
ORPHA:90674 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Hyperkalemi... |
ORPHA:289548 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hyposthenuria, Hypoglycemia |
ORPHA:91355 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Type I diabetes mellitus, Elevated circulating hepatic transaminase concent... |
OMIM:619525 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Hyposthenuria |
ORPHA:95513 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micropenis, Hypoglycemia, Torticollis |
OMIM:620224 |
Bardet-Biedl Syndrome 20 |
|
Elevated circulating hepatic transaminase concentration, Proteinuria, Pancreatitis, Hypercholeste... |
OMIM:619471 |
Aromatase Deficiency |
|
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis |
ORPHA:91 |
Simpson-Golabi-Behmel Syndrome |
|
Macroglossia, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Camptodactyly of finger, Hy... |
ORPHA:373 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Hepatic ... |
OMIM:615356 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Flexion contracture, Diabetes mellitus, Pancr... |
OMIM:609069 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Hypercholesterolemia |
ORPHA:2479 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Attention deficit hyperactivity disorder, Joint contracture of the 5th fing... |
OMIM:619934 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Gluc... |
OMIM:619127 |
Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,... |
ORPHA:79324 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia, Maternal diabetes |
ORPHA:3157 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... |
ORPHA:96180 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Increased circulating cortisol level, Hypoglycemia, Hypokalemia |
ORPHA:786 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemi... |
ORPHA:79474 |
Congenital Syphilis |
|
Hypoglycemia, Hepatosplenomegaly, Pancreatitis, Prolonged neonatal jaundice, Nephrotic syndrome |
ORPHA:499009 |
Holoprosencephaly |
|
Abnormality of the urinary system, Hypoglycemia, Abnormality of the spleen, Congenital diaphragma... |
ORPHA:2162 |
Neuhauser Syndrome |
|
Dysphagia, Hypercholesterolemia |
OMIM:249310 |
Biotinidase Deficiency |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Organic aciduria |
OMIM:253260 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Diastasis ... |
OMIM:130650 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Jaundice, Neonatal hypoglycemia, Dysphagia |
OMIM:617248 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia |
OMIM:262600 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
ORPHA:447788 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Hypoglycemia |
ORPHA:95496 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures |
ORPHA:565624 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Lower limb muscle weakness, Glucose intolerance, Re... |
OMIM:606721 |
Toxic Epidermal Necrolysis |
|
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of the urethra, ... |
ORPHA:537 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Hypospadias, Annular pancreas, Camptodactyly of finger, Abnormality of t... |
ORPHA:1606 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Developmental And Epileptic Encephalopathy 50 |
|
Oroticaciduria, Hyperammonemia, Dysphagia, Renal tubular acidosis |
OMIM:616457 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
OMIM:619573 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypoglycemia, Insulinoma, Pancreatic islet cell adenoma, Hy... |
OMIM:131100 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia |
OMIM:233600 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Hy... |
OMIM:311250 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Hyp... |
ORPHA:293987 |
Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Insulin resistance, Cholelithiasis, Distal amyotrophy, Skeletal... |
ORPHA:273 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Increased circulating ferritin concentration, Hepatic steatosis, Splenomegaly, Limb hy... |
OMIM:615846 |
Pituitary Apoplexy |
|
Hyponatremia, Increased circulating cortisol level, Hypoglycemia |
ORPHA:95613 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Knee flexion contracture, Bila... |
OMIM:300868 |
Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Elevated circulating aspartate aminotransferase conce... |
ORPHA:466677 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Hypoglycemia, Camptodactyly of finger |
ORPHA:2710 |
Garg-Mishra Progeroid Syndrome |
|
Microvesicular hepatic steatosis |
OMIM:620601 |
Erdheim-Chester Disease |
|
Polydipsia, Xanthelasma, Renal insufficiency, Hydronephrosis, Dysuria, Retroperitoneal fibrosis |
ORPHA:35687 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Hypoglycemia |
OMIM:616007 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hypoglycemia, Skeletal muscle atrophy, Myopathy |
ORPHA:109 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis |
OMIM:619273 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Self-mutilation, Hepatomegaly, Micropenis, Neonatal hypoglycem... |
OMIM:619004 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:99226 |
Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Dysphagia, Foot dorsiflexor ... |
OMIM:619503 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dilatation of the renal pelvis, Cholestasis, Dark urine, Hyperbilirubinemia, Congenital hepatic f... |
OMIM:619534 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic steatosis |
OMIM:210900 |
Biotinidase Deficiency |
|
Hyperammonemia, Limb muscle weakness, Organic aciduria |
ORPHA:79241 |
Ogden Syndrome |
|
Hyperbilirubinemia, Microvesicular hepatic steatosis, Motor stereotypy, Global glomerulosclerosis... |
OMIM:300855 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Renal ... |
ORPHA:391665 |
Menkes Disease |
|
Prolonged neonatal jaundice, Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, Hypoglycemia |
OMIM:614501 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Organic aciduria, Increased erythrocyte protoporphyrin concentration |
OMIM:301310 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Kabuki Syndrome 2 |
|
Horseshoe kidney, Neonatal hypoglycemia |
OMIM:300867 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma,... |
ORPHA:363618 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Renal cyst, Hypoglycemia |
ORPHA:137675 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Hepatic steatosis, Micropenis, Flexion contracture, Azotemia |
OMIM:619321 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
Orotic Aciduria |
|
Oroticaciduria, Hematuria, Orotic acid crystalluria |
OMIM:258900 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Alström Syndrome |
|
Chronic kidney disease, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Hepatic ... |
ORPHA:64 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Neonatal hypoglycemia, Enlarged kidney, Myopathy |
OMIM:261740 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Hyperkalemia, Hypernatriuria, Hyponatremia, Decreased circulating cortisol level, Uro... |
ORPHA:90794 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Camptodactyly of finger, Wide penis, Vesicoureteral reflux, H... |
ORPHA:3455 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Recurrent hypoglycemia |
ORPHA:293978 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco... |
OMIM:618278 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Prolonged neonatal jaundice, Macroglossia, Hypoglycemia |
ORPHA:226307 |
Digeorge Syndrome |
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Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hepatic steatosis, Splenomegaly, ... |
OMIM:188400 |
X-Linked Intellectual Disability, Armfield Type |
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Aminoaciduria, Galactosuria, Organic aciduria |
ORPHA:85276 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia, Renal agenesis |
ORPHA:1848 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Costello Syndrome |
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Hypoglycemia, Renal insufficiency, Achilles tendon contracture, Macroglossia, Rhabdomyosarcoma |
OMIM:218040 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
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Flexion contracture, Myopathy, Ethylmalonic aciduria, Weakness of facial musculature |
OMIM:201470 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Joint contracture of the hand, Vesicovaginal fistula, Hypoglycemia, Horseshoe kidney, Decreased c... |
OMIM:201750 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia |
ORPHA:91351 |
Sotos Syndrome |
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Ankle flexion contracture, Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral ref... |
ORPHA:821 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Micropenis, Neonatal hypoglycemia, Facial hypotonia |
ORPHA:457359 |
Holoprosencephaly 1 |
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Micropenis, Hypoglycemia |
OMIM:236100 |
Non-Acquired Panhypopituitarism |
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Hypoglycemia |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypoglycemia |
ORPHA:95494 |