Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... |
ORPHA:293964 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia... |
ORPHA:369 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... |
OMIM:615703 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci... |
OMIM:619048 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... |
OMIM:232400 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Ethylmalo... |
ORPHA:26792 |
D-Glyceric Aciduria |
|
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... |
ORPHA:941 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carbo... |
ORPHA:35 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
ORPHA:228305 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... |
ORPHA:280356 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary ... |
OMIM:612526 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
ORPHA:26793 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... |
ORPHA:2088 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal... |
ORPHA:446 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... |
OMIM:231530 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating creatinine conce... |
OMIM:617872 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... |
OMIM:608709 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased sarcoplasmic glycogen... |
ORPHA:264580 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Oligomenorrhea, He... |
OMIM:613877 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... |
ORPHA:79237 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... |
ORPHA:156 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot... |
OMIM:261680 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... |
OMIM:615160 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E... |
ORPHA:2394 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... |
OMIM:246900 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... |
OMIM:615996 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchid... |
OMIM:615381 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Diabetic ketoacidosis, Hepatic steato... |
OMIM:615238 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Hypo... |
OMIM:212138 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas... |
OMIM:201475 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di... |
ORPHA:79159 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... |
ORPHA:276575 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... |
OMIM:617950 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur... |
ORPHA:289504 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Olig... |
ORPHA:79085 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... |
ORPHA:99901 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Amen... |
ORPHA:528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free fatty acid level |
OMIM:610768 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... |
OMIM:617253 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly... |
ORPHA:2348 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Endocardial fibroelastosis, Restrictive cardio... |
ORPHA:2022 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia, Abnormal circulating... |
ORPHA:171706 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... |
OMIM:616026 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... |
OMIM:617156 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:620300 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, I... |
ORPHA:79644 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric... |
OMIM:227810 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Decreased liver... |
ORPHA:70472 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Oligomenorrhea, Hepatic ... |
ORPHA:435651 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:245400 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... |
ORPHA:435660 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Fasting hypoglycemia, Jaundice |
OMIM:201400 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolit... |
OMIM:232200 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... |
OMIM:616483 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... |
ORPHA:416 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... |
ORPHA:71 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov... |
OMIM:618329 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Hyperammo... |
OMIM:606054 |
Reni Syndrome |
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Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... |
OMIM:617575 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
2P21 Microdeletion Syndrome |
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Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Short Stature Due To Ghsr Deficiency |
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Hypoglycemia |
ORPHA:314811 |
Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia |
OMIM:609197 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Pyruvate Carboxylase Deficiency |
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Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... |
OMIM:266150 |
Galactosemia I |
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Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Combined Oxidative Phosphorylation Deficiency 47 |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism |
OMIM:618958 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Mi... |
OMIM:619418 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... |
OMIM:614922 |
Lipoyltransferase 1 Deficiency |
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Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... |
OMIM:616299 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Macrovesicular hepatic steatosis |
OMIM:618234 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Infantile Liver Failure Syndrome 3 |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... |
ORPHA:98908 |
Dicarboxylic Aminoaciduria |
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Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Glycogen Storage Disease Ixd |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Glycogen accumulation in muscle... |
OMIM:300559 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... |
OMIM:251000 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Sple... |
OMIM:232220 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Infantile Liver Failure Syndrome 1 |
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Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria |
ORPHA:300536 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Cardio... |
ORPHA:98907 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosi... |
ORPHA:94086 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Elevated circulating alkaline... |
ORPHA:52430 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,... |
ORPHA:445038 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Prote... |
OMIM:212065 |
Primary Hyperoxaluria Type 3 |
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Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Renal insuf... |
OMIM:276700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome... |
ORPHA:79259 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Abnormal heart morphology |
ORPHA:231147 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam... |
OMIM:618120 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Organic aciduria, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Abnormal circulating c... |
ORPHA:369840 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Cholec... |
OMIM:250100 |
Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... |
ORPHA:66634 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... |
ORPHA:5 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmaloni... |
OMIM:248360 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Methioninuria, Mitral valve prolapse, Hyperhomocystinemia, Hypermethioninemia, He... |
OMIM:236200 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc... |
OMIM:619487 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Mehmo Syndrome |
|
Male hypogonadism, Micropenis, Hypoglycemia |
OMIM:300148 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... |
OMIM:608594 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... |
OMIM:256810 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... |
ORPHA:97283 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hyperlipidemia, Atrial septal defect, Hep... |
ORPHA:254346 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... |
OMIM:613404 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas... |
OMIM:231670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... |
OMIM:615453 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Cryptorchid... |
OMIM:614736 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... |
OMIM:220110 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypoglycemia, Cardiomegaly, Hyperammonemia... |
ORPHA:391428 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia |
ORPHA:633 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... |
ORPHA:280365 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Cardiomyopat... |
ORPHA:699 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Cardiomyopathy, Neonatal... |
OMIM:619003 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis, Penile freckling |
ORPHA:210548 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... |
OMIM:614702 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Irregular menstruation, Infertility, Hypoglycemia |
OMIM:615962 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi... |
OMIM:232240 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... |
OMIM:262190 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Hypertrophic cardiomyopathy, Organic aciduria |
OMIM:617184 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:618241 |
Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Fetal pyelectasis, Insulin resistance, Pulmonic stenosis, Common atr... |
ORPHA:96168 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Hypoglycemia, L... |
ORPHA:506 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... |
ORPHA:20 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:616878 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Mac... |
ORPHA:298 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ... |
ORPHA:17 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosi... |
ORPHA:746 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,... |
OMIM:210210 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c... |
OMIM:608779 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia |
ORPHA:2158 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyperalaninemia, Neonata... |
OMIM:619046 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... |
ORPHA:2126 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Nephrolithiasis, Cystinuria, Hypocalcemia, Cystine crystalluria, ... |
OMIM:606407 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic h... |
ORPHA:361 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... |
OMIM:600955 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia |
ORPHA:48431 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsu... |
ORPHA:2298 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Fast... |
OMIM:180860 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... |
OMIM:619377 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal... |
ORPHA:14 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
Adrenomyodystrophy |
|
Abnormality of the urinary system, Hepatic steatosis, Megacystis |
ORPHA:977 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
Donohue Syndrome |
|
Long penis, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, F... |
OMIM:246200 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... |
ORPHA:480864 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... |
OMIM:613470 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Premature ovarian insufficiency, Hypospa... |
ORPHA:2959 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypoglycemia... |
ORPHA:199299 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating cre... |
OMIM:611881 |
Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ... |
OMIM:601005 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Hypoglycemia, Elevated urinary 5-amino-4-imidazoleca... |
OMIM:608688 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno... |
ORPHA:3376 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
D-Glyceric Aciduria |
|
Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Aminoacidu... |
OMIM:220120 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypogl... |
ORPHA:79282 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperalaninemia, Lacticaciduria, Hyperprolinemia |
ORPHA:79246 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Macroor... |
ORPHA:90790 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce... |
ORPHA:469 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Hypoglycemia |
ORPHA:95428 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abno... |
ORPHA:810 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic stea... |
OMIM:616263 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... |
OMIM:619167 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Renal tubular ... |
ORPHA:431361 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
3-Methylglutaconic Aciduria, Type Viib |
|
3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Hypogonadotropic hypogonadism, Infertility, Decreased testicular size, Amenorrhea |
ORPHA:95619 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Renal salt wasting |
OMIM:201910 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic... |
ORPHA:3008 |
Alg12-Cdg |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Elevated hepatic transaminas... |
ORPHA:79324 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Hy... |
ORPHA:2609 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:202200 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Hypoglycemia, Splenomegaly, Concentric... |
OMIM:252010 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Elevated circulating alkali... |
ORPHA:69665 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal... |
ORPHA:90791 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancre... |
OMIM:307030 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hyperammonemia, Hypoglycemia |
OMIM:618253 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Cimdag Syndrome |
|
Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... |
OMIM:619055 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Decreased female libido,... |
ORPHA:95409 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia |
ORPHA:73272 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Hypoglycemia |
OMIM:617710 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Hy... |
OMIM:617053 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal... |
OMIM:117550 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperpro... |
ORPHA:90041 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... |
ORPHA:100086 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Hypoglycemia, Portal hypertens... |
OMIM:613658 |
Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Hypogly... |
ORPHA:91355 |
Leprechaunism |
|
Hepatomegaly, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:508 |
Atypical Werner Syndrome |
|
Renal neoplasm, Hypertriglyceridemia, Premature ovarian insufficiency, Diabetes mellitus, Aortic ... |
ORPHA:79474 |
Temple Syndrome |
|
Cryptorchidism, Recurrent hypoglycemia, Type II diabetes mellitus |
ORPHA:254516 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Hypoglycemia, Cryptorchidism, Hypocalcemia, Micropenis, Patent foramen ovale |
OMIM:607143 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria, Hyperglycinemia |
OMIM:619063 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:391408 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypoglycemia, Oligozoospermia, Hypokalemia, Increased circulati... |
ORPHA:786 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, Abnormal heart morphology, Atrial... |
ORPHA:457279 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Dysmenorrhea, Hypoglycemia, Cryptorchidism, Microphallus |
ORPHA:397590 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Hypoglycemia, Unilateral renal agenesis |
OMIM:617190 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Impotence, Increased circulating cort... |
ORPHA:95613 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Abnormality of... |
ORPHA:2869 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Recurrent hypoglycemia, Renal hypoplasia |
OMIM:616817 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci... |
OMIM:557000 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Premature ovarian insufficiency, Primary test... |
ORPHA:85138 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Lacticaciduria, Elevated circ... |
OMIM:605711 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat... |
OMIM:270400 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Type II diabetes mellitus... |
ORPHA:453533 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Cr... |
ORPHA:168558 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaciduria, Portal fibros... |
OMIM:207800 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Dextrocardia, Unilateral renal a... |
OMIM:620305 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Azoospermia, Type II dia... |
OMIM:210900 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Cr... |
ORPHA:289548 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:616638 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... |
OMIM:615356 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hy... |
ORPHA:769 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:233600 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, High urina... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, High urina... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, High urina... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Bicuspid aortic valve, High urina... |
ORPHA:99226 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... |
OMIM:131100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Hypoglycemia, Type I diabetes mellitus, D... |
OMIM:616113 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:615846 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Hypoglycemia, Microvesicular hepat... |
OMIM:220111 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... |
ORPHA:173 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Hyperglycemia, Pancreatic hypopla... |
OMIM:609069 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Hypoglycemia, Nephroblastoma, Elevated circulating alpha-feto... |
ORPHA:116 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... |
OMIM:251110 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abnormal pulmona... |
ORPHA:2162 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... |
ORPHA:404454 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Microvesicular hepatic s... |
OMIM:300868 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Hepatitis, Ste... |
ORPHA:2331 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Pericarditis, Renal insufficiency, Hypoglycemia, Elevated circulat... |
ORPHA:99826 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesico... |
OMIM:130650 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati... |
ORPHA:774 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Atrial septal defect, Ureteral duplication, Ventricular septal defect, Hypoplasia o... |
ORPHA:373 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... |
ORPHA:64 |
Orthostatic Hypotension 1 |
|
Nocturia, Increased blood urea nitrogen, Retrograde ejaculation, Hypomagnesemia, Neonatal hypogly... |
OMIM:223360 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Tenorio Syndrome |
|
Enuresis, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Hyperalaninemia, Hyper... |
OMIM:618250 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:565624 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Pulmonic stenosis |
OMIM:617600 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria |
OMIM:614707 |
Biotinidase Deficiency |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Organic aciduria, Decreased circulating biotinidase c... |
OMIM:253260 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Glutaric aciduria, Chronic kidney disease,... |
ORPHA:25 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper... |
OMIM:251120 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoglycemia, Primary amenorrhea |
ORPHA:95496 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypogonadism, Hypoglycemic seizures |
OMIM:262600 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst |
ORPHA:137675 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Nephrocalcinosis, Hypoglycemia |
OMIM:618005 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemi... |
ORPHA:90062 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Hypospadias, Neonatal hypoglycemia |
ORPHA:457485 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal glycosphingolipid metabolism, Urinary incontinence, Cholecystitis |
ORPHA:309263 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... |
OMIM:251900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney, Abn... |
ORPHA:1606 |
Kabuki Syndrome 2 |
|
Horseshoe kidney, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect, Neonata... |
OMIM:300867 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Listeriosis |
|
Pericarditis, Liver abscess, Myocarditis, Jaundice, Peritonitis, Endocarditis, Pyelonephritis, He... |
ORPHA:533 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Cardiomyopathy |
ORPHA:572798 |
Silver-Russell Syndrome |
|
Hypospadias, Cryptorchidism, Insulin resistance, Recurrent hypoglycemia, Abnormality of the urina... |
ORPHA:813 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Neonatal hypog... |
ORPHA:90794 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormal glycosphingolipid metabolism, Urinary incontinence, Cholecystitis, Neoplasm of the gallb... |
ORPHA:309271 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Multiple glomerular cysts, Abnormality of Krebs cycle metabolism, Low plasma citrul... |
ORPHA:255210 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Micropenis, Hypoglycemia |
OMIM:620224 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Diabetes mellitus, Cholangiti... |
ORPHA:183675 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Pancreatic ... |
OMIM:267000 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci... |
ORPHA:35706 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ventricular septal defect, Hypoglycemia |
ORPHA:2710 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Rett Syndrome |
|
Increased serum pyruvate, Cholecystitis, Hyperammonemia |
ORPHA:778 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Cryptorchidism, Insulin resistance, Horseshoe kidney, Abnormal heart morphology, Fas... |
ORPHA:96182 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal death, Neonatal hypogl... |
OMIM:617248 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria |
OMIM:618247 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Urinary incontinence |
OMIM:619934 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Jau... |
OMIM:619475 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic steatosis, Decreased tes... |
OMIM:619321 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Lacticaciduria |
OMIM:618811 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria |
ORPHA:99742 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Hypogonadotropic hypogonad... |
ORPHA:3455 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration... |
ORPHA:99827 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Urinary incontinence, Cholecystitis |
ORPHA:309256 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... |
OMIM:261740 |
Wolf-Hirschhorn Syndrome |
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Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormal... |
ORPHA:280 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ventricular septal defect, Mitral atresia, Portal hypertension, Unilateral renal agenesis, Crypto... |
OMIM:619503 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Abnormal circulating thyroglobulin level, Hypogonadotropic hypogonadism, Hypoglycemia, Prolonged ... |
ORPHA:226307 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Splen... |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Aortic valve stenosis, Bicuspid aortic valve, Hypoglycemia |
OMIM:614501 |
Scorpion Envenomation |
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Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin... |
ORPHA:466677 |
Menkes Disease |
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Bladder diverticulum, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Hypoglycemia |
OMIM:616007 |
X-Linked Dominant Chondrodysplasia Punctata |
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Hydronephrosis, Neonatal hypoglycemia |
ORPHA:35173 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
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Organic aciduria |
OMIM:620191 |
Holocarboxylase Synthetase Deficiency |
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Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H... |
OMIM:253270 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia |
ORPHA:293978 |
Holocarboxylase Synthetase Deficiency |
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Organic aciduria, Hyperammonemia |
ORPHA:79242 |
Deeah Syndrome |
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Hepatomegaly, Cryptorchidism, Micropenis, Neonatal hypoglycemia, Exocrine pancreatic insufficiency |
OMIM:619004 |
Cerebral Visual Impairment |
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Neonatal hypoglycemia |
ORPHA:447788 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hypoglycemia |
ORPHA:109 |
Costello Syndrome |
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Renal insufficiency, Ventricular septal defect, Hypoglycemia, Mitral valve prolapse, Pulmonic ste... |
OMIM:218040 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Decreased circulating cortisol level, Hypospadias, Hypoglycemia, Cryptorchidism, Ve... |
OMIM:201750 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypercalcemia, Hypospadias,... |
ORPHA:821 |
D-Lactic Aciduria With Gout |
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Lacticaciduria |
OMIM:245450 |
Biotinidase Deficiency |
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Organic aciduria, Decreased circulating biotinidase concentration, Hyperammonemia |
ORPHA:79241 |
X-Linked Intellectual Disability, Armfield Type |
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Cryptorchidism, Aminoaciduria, Abnormal cardiac septum morphology, Galactosuria, Organic aciduria |
ORPHA:85276 |
Non-Acquired Panhypopituitarism |
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Hypoglycemia, Hypogonadotropic hypogonadism, Infertility, Decreased testicular size, Amenorrhea |
ORPHA:90695 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia, Renal agenesis |
ORPHA:1848 |
Holoprosencephaly 1 |
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Micropenis, Hypoglycemia, Single ventricle |
OMIM:236100 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypoglycemia, Hypogonadotropic hypogonadism, Infertility, Decreased testicular size, Amenorrhea |
ORPHA:95494 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Micropenis, Neonatal hypoglycemia |
ORPHA:457359 |