Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... |
OMIM:232700 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol... |
OMIM:306000 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep... |
OMIM:261750 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Seizure, Short stature, Hypoglycemia, Hyperlipidemia |
ORPHA:364 |
Acid-Labile Subunit Deficiency |
|
Delayed puberty, Reduced insulin like growth factor binding protein acid labile subunit concentra... |
OMIM:615961 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Hyperinsulinism Due To Insr Deficiency |
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Seizure, Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia,... |
ORPHA:263458 |
Glycogen Storage Disease Ixc |
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Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, ... |
OMIM:614480 |
Neutral Lipid Storage Disease With Myopathy |
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Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:610717 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Glycogen Storage Disease Ia |
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Hyperuricemia, Short stature, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transam... |
OMIM:232200 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Cirrhosis, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin... |
OMIM:604367 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta... |
OMIM:619868 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Short stature, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepa... |
OMIM:612526 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Hypoketotic hypoglycemia, Seizure, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recu... |
ORPHA:79299 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hyperuricemia, Seizure, Decreased plasma carnitine, Myoclonus, Increased level of 3-hydroxy-3-met... |
OMIM:246450 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia, Seizure |
ORPHA:35701 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
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Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Increased LDL cholesterol conce... |
OMIM:615703 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat... |
OMIM:617056 |
3-Methylglutaconic Aciduria Type 1 |
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3-Methylglutaconic aciduria, Seizure, Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Short Stature Due To Partial Ghr Deficiency |
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Delayed puberty, Hypoglycemia, Growth delay, Short stature |
ORPHA:314802 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormal localization of kidney, Prol... |
ORPHA:446 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Elevated hepatic transamin... |
ORPHA:369 |
Phosphoserine Phosphatase Deficiency |
|
Seizure, Hyposerinemia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Increased urine alpha-ketoglu... |
ORPHA:35878 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Pituitary dwarfism, Severe postnatal growth retardation, Short stature |
OMIM:262700 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated h... |
OMIM:232220 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Hepatic failure, Seizure, Decreased circulating ceruloplasmin co... |
OMIM:616828 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Severe short stature, Hypoglycemia, Intrauterine growth retardation |
OMIM:223500 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism, Insulin-resistant diabetes m... |
ORPHA:436182 |
Growth Hormone Insensitivity Syndrome |
|
Short stature, Type II diabetes mellitus, Insulin resistance, Hypoplasia of penis, Diabetes melli... |
ORPHA:181393 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Hypertriglyceridemia, Seizure, Hepatomegaly |
OMIM:615924 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Fructose And Galactose Intolerance |
|
Hypoglycemia, Seizure |
OMIM:229500 |
Short Stature Due To Ghsr Deficiency |
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Delayed puberty, Hypoglycemia, Growth delay, Short stature |
ORPHA:314811 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... |
OMIM:615158 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Seizure, Neonatal hypoglycemia |
OMIM:240900 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Nonketotic hypoglyc... |
OMIM:201475 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Seizure, Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decrease... |
OMIM:617093 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered finger, Tapered toe, Renal dysplasia, Elbow flexion contracture, Elevated hepatic transam... |
OMIM:608836 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia |
OMIM:240600 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,... |
ORPHA:79083 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... |
OMIM:619902 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... |
ORPHA:2088 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hypoglycemi... |
OMIM:231530 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Seizure, Elevated hepatic transaminase, Neonatal hypoglycemia, In... |
ORPHA:348 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Hypertriglyceridemia, Seizure |
OMIM:618010 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin... |
OMIM:232400 |
African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... |
ORPHA:139507 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Short stature, Postnatal growth retardation |
OMIM:616113 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Seizure, Ketotic hypoglycemia, Ketonuria, Glycosuria, Short stature, Elevated hepatic transaminas... |
ORPHA:2089 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t... |
OMIM:616026 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Seizure, Hepatocellular necrosis, Depletion of mitochondria... |
OMIM:251880 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Seizure, Ketotic hypoglycemia, Hepatic steatosi... |
ORPHA:26792 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Polycystic kidney... |
OMIM:231680 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Seizure, Organic aciduria, Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hyperuricemia, Hematuria |
ORPHA:510 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... |
OMIM:255120 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperinsulinemia, Hyperuricemia, Short stature, Chronic active hepa... |
OMIM:203800 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia... |
OMIM:137920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Hyperuricemia, Seizure, Hypercholesterolemia |
ORPHA:77296 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Hereditary Fructose Intolerance |
|
Hyperuricemia, Seizure, Jaundice, Hypophosphatemia, Chronic hepatic failure, Hypermagnesemia, Rea... |
ORPHA:469 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating selenium concentration, Growth delay, Short stature |
ORPHA:171706 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Gout, Increas... |
OMIM:232800 |
Niemann-Pick Disease, Type B |
|
Short stature, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, ... |
OMIM:607616 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Seizure, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, He... |
ORPHA:79259 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Seizure, Acute kidney injury, Dysuria, Nephropathy, Mac... |
ORPHA:79233 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Pyruvate Carboxylase Deficiency |
|
Hyperalaninemia, Seizure, Proximal renal tubular acidosis, Hypoglycemia, Increased serum pyruvate... |
OMIM:266150 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Seizure, Hepatosple... |
ORPHA:79237 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Wide anterior fontanel, Seizure, Polycystic kid... |
ORPHA:26791 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Im... |
OMIM:261680 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Seizure, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridem... |
OMIM:603552 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Seizure, Abnormality of the kidney, Renal agenesis, Protein... |
ORPHA:261222 |
Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... |
OMIM:608600 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, P... |
OMIM:615382 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Seizure, Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Dec... |
OMIM:246900 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Seizure, Elevated hepatic transaminase, Elevated circulating creatine k... |
OMIM:600649 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hematuria, Hepatocellular carcinoma, Hepatoblastoma, Gout, H... |
OMIM:232240 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Diabetes mellitus, Increased blood urea nitrogen, Polyuria, Hy... |
OMIM:613845 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen... |
OMIM:603471 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Seizure, Myoclonus, Insulin resistance, Status epilepticus, Hepatic ... |
ORPHA:363400 |
2P21 Microdeletion Syndrome |
|
Seizure, Cystinuria, Hypoglycemia, Growth delay, Hypocalcemia, Nephrolithiasis |
ORPHA:163693 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Hepatic steatosis, Increased blood urea nitrogen, Hypoglycemia, Hepatomegaly, El... |
OMIM:617872 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Seizure, Insulin resistance, Hepatic steatosis, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Renal tubular acidosis, Seizure, Elevated hepatic transaminase, Transient hyperl... |
ORPHA:156 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Status ... |
ORPHA:276580 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia |
ORPHA:543 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Seizure, Increased urine alpha-ketoglutarate concentration, Decreased plasma car... |
ORPHA:2394 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steat... |
ORPHA:280356 |
Laron Syndrome |
|
Short toe, Abnormality of the elbow, Hypoplasia of penis, Brachydactyly, Severe short stature, Hy... |
ORPHA:633 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Glycerol Kinase Deficiency |
|
Seizure, Short stature, Increased urinary glycerol, Hypoglycemia, Growth delay, Hypertriglyceridemia |
OMIM:307030 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
Combined Malonic And Methylmalonic Acidemia |
|
Generalized clonic seizure, Seizure, Methylmalonic acidemia, Dicarboxylic aciduria, Dicarboxylic ... |
ORPHA:289504 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase, Hammertoe |
OMIM:618400 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Cirrhosis, Hyperuricemia, Seizure, Glycosuria, Hyp... |
OMIM:229600 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hepat... |
ORPHA:79085 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:605814 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Seizure, Ketonuria, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Seizure, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot ... |
OMIM:617575 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Seizure, Hypercholesterolemia |
OMIM:607250 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Short stature, Elevated circulating creatine kinase concentration, H... |
OMIM:618120 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Seizure, Ketonuria, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transamina... |
ORPHA:20 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer... |
OMIM:615238 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Seizure, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycem... |
OMIM:201450 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... |
ORPHA:79240 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... |
ORPHA:85445 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Postaxial pol... |
OMIM:615996 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... |
ORPHA:370 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Cystinuria |
|
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis |
ORPHA:214 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Infantile Liver Failure Syndrome 2 |
|
Seizure, Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic fai... |
OMIM:616483 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Small hand, Clinodactyly, Maturity-onset diabetes of the young, Hypercholesterolemia, Short foot,... |
ORPHA:254531 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infecti... |
OMIM:248250 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Seizure, Hepatocellular carcinoma, Elevated hepatic trans... |
ORPHA:247585 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Pyridoxine-Dependent Epilepsy |
|
Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Hypoglycemia, Ato... |
ORPHA:3006 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228305 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... |
ORPHA:264580 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Seizure, Myoclonus |
OMIM:610090 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Elevated urinary 3-hydroxybutyric ... |
ORPHA:42 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia |
OMIM:606528 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... |
OMIM:276700 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru... |
OMIM:620010 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De... |
ORPHA:79159 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Seizure, Short stature, Hip dislocation, Podagra, Nephrocalcinosis, Nephrolithiasi... |
OMIM:300322 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Seizure, Short stature, Neonatal hypoglycemia, Hypoglycemia, Postnatal growth retardation |
ORPHA:231140 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Hyperlipidemia |
OMIM:617885 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Hypoplasia of penis, Seizure |
ORPHA:2022 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Gaisböck Syndrome |
|
Hyperuricemia, Hypernatriuria, Increased circulating renin level, Gout, Diabetes mellitus, Cholec... |
ORPHA:90041 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Seizure, Increased circulating... |
ORPHA:79644 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Seizure, Hypoglycemia, Hyperammonemia, Cardiomegaly, Ascites, Intrauterine growt... |
OMIM:614702 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... |
ORPHA:228308 |
Hypouricemia, Renal, 1 |
|
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Short stature, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple... |
OMIM:300635 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Flared ilia... |
OMIM:617303 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Arthritis, Gout, Ren... |
ORPHA:411543 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, 3-Methylglutaconic aciduria, Seizure, Hypoglycemia |
ORPHA:67048 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... |
OMIM:301045 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala... |
OMIM:256810 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618838 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Hypercholesterolemia, IgA deposition in the glomerulus, Hallux valgus, Sho... |
OMIM:618348 |
Pyridoxal Phosphate-Responsive Seizures |
|
Seizure, Abnormal circulating threonine concentration, Abnormal circulating arginine concentratio... |
ORPHA:79096 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Increased C-peptide level, Insulin resistance, Hepatic steatosis, Di... |
ORPHA:528 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Hypercholesterolemia, IgA deposition in the glomerulus, Nephrotic syndrome... |
OMIM:616730 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Seizure, Short stature, Enlarged kidney, Myoclonus, Membranoproliferative glomerulonephritis, Inc... |
ORPHA:251004 |
Acth Deficiency, Isolated |
|
Seizure, Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia |
OMIM:201400 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Arachnodacty... |
OMIM:619013 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Elevated circulating alanine aminotransferase concentration, Seizure, ... |
OMIM:614727 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Insuli... |
ORPHA:435660 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Seizure, Hypercholesterolemia |
ORPHA:94124 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Erlenmeyer flask deformity of the femur... |
OMIM:610539 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Delayed cranial suture closure, Hyperinsulinemia, Coxa valga, Acroosteolysi... |
OMIM:248370 |
Dysbetalipoproteinemia |
|
Renal steatosis, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL choleste... |
ORPHA:412 |
Rotor Syndrome |
|
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice, Hyperbilir... |
ORPHA:3111 |
Juvenile Paget Disease |
|
Hyperuricemia, Short stature |
ORPHA:2801 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hepatomegaly, Hypertrigly... |
ORPHA:435651 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Seizure, Hyperinsulinemic hypoglycemia, Reactive hypo... |
ORPHA:276608 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Seizure, Glycosuria, Elevated hepatic transaminase, N... |
ORPHA:263455 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Seizure, Elevated hepatic transaminase, Hepatosplenomegaly, He... |
ORPHA:541423 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... |
OMIM:615415 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:617950 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Insulin resistance, Enlarged polycystic ovaries, Insulin-resistant diabetes mell... |
ORPHA:90301 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Wide anterior fontanel |
OMIM:618272 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hematuria, Hyperlipidemia, Joint hemorrhage |
ORPHA:35909 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Seizure, Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Type I dia... |
ORPHA:199299 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Seizure, Elevated hepatic transaminase, Dicarboxylic aciduria, Neonatal hypoglycemia, Elevated ci... |
OMIM:212138 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Seizure, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting, I... |
ORPHA:95409 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
Cog4-Cdg |
|
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Hypercholesterolemia,... |
ORPHA:263501 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Seizure, Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated ur... |
OMIM:210200 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomeg... |
ORPHA:2348 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia, Pancreatitis |
OMIM:620137 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... |
OMIM:277900 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Mandibuloacral Dysplasia |
|
Delayed cranial suture closure, Hyperinsulinemia, Increased circulating free fatty acid level, Ac... |
ORPHA:2457 |
Temple Syndrome |
|
Hypertriglyceridemia, Small hand, Short stature, Clinodactyly, Maturity-onset diabetes of the you... |
OMIM:616222 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Postnatal growth retardation |
OMIM:616111 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Mehmo Syndrome |
|
Seizure, Birth length less than 3rd percentile, Delayed puberty, Hypoglycemia, Micropenis |
OMIM:300148 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated hepatic transaminase, Blue urine, Recurrent hypoglycemia, Hypercalcem... |
ORPHA:94086 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Abnormal circulating lipid concentration, Insulin resistance, Hepati... |
ORPHA:79086 |
Hemochromatosis Type 4 |
|
Cirrhosis, Joint dislocation, Hepatic steatosis, Increased circulating ferritin concentration, Jo... |
ORPHA:139491 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Infantile Liver Failure Syndrome 3 |
|
Abnormality of the epiphysis of the femoral head, Short stature, Jaundice, Elevated hepatic trans... |
OMIM:618641 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Seizure, Epiphyseal stippling, Renal cyst, Hepatomegaly, Decreased liver function |
OMIM:614870 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Hepatic failure, Hyperbilirubinemia, Hepatocellular carcinoma, Abnormal renal phy... |
ORPHA:158057 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Short stature, Short humerus, Hydroxyprolinuria, Lateral femora... |
OMIM:239000 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Seizure, Diffuse hepatic steatosis, Elevated hepatic tra... |
OMIM:264470 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Long penis, Hypoglycemia, Postprandial hy... |
OMIM:262190 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
H Syndrome |
|
Hallux valgus, Short stature, Abnormality of the kidney, Enlarged kidney, Camptodactyly, Hepatosp... |
ORPHA:168569 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Decreased liver function, Renal dysplasia, Seizure, Myoclonus, Renal cyst... |
OMIM:614922 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Narrow pelvis bone, Nephrogen... |
OMIM:608022 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Hepatic failure, Elevated circulating acy... |
ORPHA:157 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Short stature, Renal dysplasia, Short long bone, Enlarged kidney, Polycyst... |
OMIM:613091 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Tapered finger, Small hand, Short stature, Type II diabetes mellitus, Renovascular hypertension, ... |
ORPHA:401923 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Seizure, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting, Hypoglycemia, Hy... |
OMIM:614736 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Increased urinary taurine, Hypertaurinemia, Generalized myoclonic seiz... |
OMIM:615501 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Seizure, Hyponatremia |
OMIM:240200 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hepatocellular Carcinoma |
|
Abnormality of the liver, Liver abscess, Type II diabetes mellitus, Hepatic necrosis, Jaundice, E... |
ORPHA:88673 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Seiz... |
ORPHA:159 |
Maple Syrup Urine Disease |
|
Seizure, Hypoglycemia, Increased level of hippuric acid in urine, Elevated plasma branched chain ... |
OMIM:248600 |
Leprechaunism |
|
Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Hypokalemia, Insulin resistance, Increased... |
ORPHA:508 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Seizure, Jaundice, Increased... |
OMIM:267700 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis, Hypouricemia |
OMIM:612076 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Broad long bone diaphyses, Rhizomelia, Short stature, Stage 5 chronic kidney disease, Short iliac... |
OMIM:614376 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small hand, Short stature, Clinodactyly, Maturity-onset diabetes of the young, Hypercholesterolem... |
ORPHA:96184 |
Cog7-Cdg |
|
Seizure, Abnormal finger morphology, Abnormality of the kidney, Jaundice, Elevated hepatic transa... |
ORPHA:79333 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:618620 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Seizure, Hyperprolinemia |
OMIM:615918 |
Propionic Acidemia |
|
Hyperglycinemia, Seizure, Short stature, Hypoglycemia, Increased level of hippuric acid in urine,... |
OMIM:606054 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Elevated hepatic transaminase, Intrauterine growth retardation, Hepatomegaly |
OMIM:618958 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
2-ethylhydracylic aciduria, Hypoglycemia, Seizure |
OMIM:610006 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemi... |
ORPHA:199296 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration, Seizure |
OMIM:300438 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia, Seizure |
OMIM:614739 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Hepatic fibrosis, Hepatic failure, Short stature, Short long bone, Impaired glucose ... |
OMIM:615630 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Leigh Syndrome |
|
Hepatocellular necrosis, Seizure |
OMIM:256000 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Bilateral Striopallidodentate Calcinosis |
|
Seizure, Abnormality of the liver, Intrauterine growth retardation, Hepatomegaly |
ORPHA:1980 |
Carcinoid Syndrome |
|
Hepatic necrosis, Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration |
ORPHA:100093 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypertaurinemia, El... |
OMIM:245400 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... |
OMIM:251000 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... |
OMIM:615947 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Multiple renal ... |
ORPHA:2924 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Short stature, Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly |
ORPHA:417 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Flared iliac wing, Camptodactyly, Hip dislocation, Hepatomegaly, Spl... |
OMIM:252500 |
Addison Disease |
|
Hyperuricemia, Seizure, Decreased circulating cortisol level, Hyperkalemia, Type I diabetes melli... |
ORPHA:85138 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Elevated h... |
OMIM:614921 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Infantile Liver Failure Syndrome 1 |
|
Seizure, Elevated hepatic transaminase, Hepatic steatosis, Long toe, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
Timothy Syndrome |
|
Cardiomegaly, Hypoglycemia, Hypocalcemia, Seizure |
OMIM:601005 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Seizure, Short stature, Brachydactyly, Hypercholesterolemia, Abnormality of... |
OMIM:182290 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Seizure, Cystinuria, Neonatal hypoglycemia, Hypocalcemia, Nephrolithiasis, ... |
OMIM:606407 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Seizure, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Seizure, Status epilepticus, Hypoglycemia, Hyperammonemia, Hypospadias, Intrauterine growth retar... |
OMIM:618253 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Seizure, Jaundice, Epiphyseal stippling, Elevated circulating aspartate aminotransferase concentr... |
OMIM:614876 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Status epilepticus, Neonatal hypoglycemia, Increased serum pyruvate, Hyperprolin... |
OMIM:619046 |
Cockayne Syndrome |
|
Urinary incontinence, Hyperuricemia, Seizure, Nephrotic syndrome, Neurogenic bladder, Elevated he... |
ORPHA:191 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, 3-Methylglutaconic aciduria, Microve... |
OMIM:610198 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Seizure, Recurrent hypoglycemia |
OMIM:618158 |
D-Glyceric Aciduria |
|
Aminoaciduria, Seizure, Myoclonus, Focal clonic seizure, Status epilepticus, Hypoglycemia, Bilate... |
OMIM:220120 |
Galactosemia Iii |
|
Aminoaciduria, Hypergalactosemia, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Growth delay... |
ORPHA:71 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Generalized tonic seizure, Seizure, Long hallux, Gene... |
ORPHA:79322 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Intrauterine growth retardation |
ORPHA:231147 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycem... |
OMIM:615453 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Generalized-onset seizure, Polysplenia, Macronodular... |
OMIM:619418 |
Malonyl-Coa Decarboxylase Deficiency |
|
Seizure, Short stature, Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria |
OMIM:248360 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Periportal fibrosis, Decreased circu... |
ORPHA:101330 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Generalized tonic seizure, Seizure, Ketonuria, ... |
ORPHA:480864 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Uric acid nephrolithiasis, Hyperuricemia, Short stature, Gout, Hypospadias, Renal i... |
OMIM:300661 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Seizure, Myoclonus, Elevated hepatic transaminase, Neonatal hypoglyc... |
ORPHA:445038 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Seizure, Jaundice, Elevated hepatic transaminase, Abnormal renal physiology, Increased circulatin... |
ORPHA:540 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... |
ORPHA:731 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Seizure, Short stature, Hip dislocation, Steatorrhea, Hepatic steatosis, Diabet... |
OMIM:616263 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancr... |
OMIM:151660 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Insulin resistance, Severe postnatal growth retardation, Hypoglycemia, Neonatal hy... |
ORPHA:73272 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Juvenile rheumatoid arthritis, Hepat... |
ORPHA:158061 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Renal tu... |
OMIM:227810 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... |
OMIM:614582 |
Adrenomyodystrophy |
|
Seizure, Short stature, Hepatic steatosis, Megacystis, Abnormality of the urinary system |
ORPHA:977 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Epiphyseal stippling, Seizure, Hepatomegaly |
OMIM:614859 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Seizure, Short stature, Elevated hepatic transaminase, Hepatic steat... |
ORPHA:300536 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Seizure, Clinodactyly of the 5th finger, Hepatic steatosis, Hypospadias, Toe c... |
ORPHA:254346 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit... |
ORPHA:470 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Seizure, Recurrent urinary tract infections, Stage 5 chronic kidney disease, As... |
OMIM:619487 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Jaundice, 4-hyd... |
OMIM:617156 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Renal ... |
ORPHA:890 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Hyperl... |
ORPHA:90970 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Seizure, Short stature, Renal hypoplasia/aplasia, Toe syndactyly, Hand poly... |
ORPHA:819 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Seizure, Myoclonus |
OMIM:618241 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Hyp... |
OMIM:619127 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperleucinemia, Seizure, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic ac... |
OMIM:210210 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618835 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Delayed closure of the anterior fontanelle, Seizure, Short stature, Epiphyseal stippling, Type I ... |
ORPHA:251009 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618839 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Seizure, Short stature, Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormality of the ischium, Enlarged kidney, Abnormal spleen morphology, Hepato... |
ORPHA:464329 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Eleva... |
ORPHA:94093 |
Acute Liver Failure |
|
Seizure, Acute kidney injury, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Elevated hepat... |
ORPHA:90062 |
Alg9-Cdg |
|
Delayed cranial suture closure, Hypoplasia of the bladder, Hepatic cysts, Wide anterior fontanel,... |
ORPHA:79328 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Acute... |
ORPHA:444490 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Pan... |
OMIM:618805 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni... |
ORPHA:99901 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Seizure, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
OMIM:603553 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Increased urinary taurine, Seizure, Myoclonic spasms, Increased urinary thiosulfate, Absent urina... |
OMIM:252150 |
Glutaric Acidemia I |
|
Seizure, Ketonuria, Hypoglycemia, Elevated circulating glutaric acid concentration, Glutaric acid... |
OMIM:231670 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Elevated hepatic transaminase, H... |
ORPHA:189439 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... |
OMIM:130650 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Seizure, Hepatomegaly, Increased urinary glycerol |
OMIM:229700 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Short long bone, Enlarged kidney, Splenic cyst, Unilateral renal agenes... |
OMIM:618188 |
Retinitis Pigmentosa 59 |
|
Seizure, Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Renal insu... |
OMIM:613861 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal long bone morphology, Urinary bladder sphincter dysfunction, Short stature, Elevated cir... |
ORPHA:52430 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Enlarged kidney, Hand polydactyly, Proximal placement of thumb, Absent radius, ... |
OMIM:314390 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Growth delay, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Hip dysplasia, Jaundice, Elevated hepatic tran... |
OMIM:613404 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Rheumatoid arthritis, Hepatomegaly, Clubbing |
ORPHA:79128 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Pelvic mass, Urinary retention, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemi... |
ORPHA:2126 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Reduced pancreatic beta cells, Coxa valga, Irregular carpal bones, Hip dislocati... |
OMIM:226980 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary taurine, Seizure, Myoclonic spasms, Increased urinary hypoxanthine, Xanthine ne... |
OMIM:252160 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia, Short stature, Postnatal growth retardation |
ORPHA:231137 |
Classic Galactosemia |
|
Hepatic failure, Seizure, Jaundice, Elevated hepatic transaminase, Hypoglycemia, Delayed puberty,... |
ORPHA:79239 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Elevated hepatic transaminase, Elevated circulating creatin... |
OMIM:613327 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Intrauterine growth retardation, Short stature |
ORPHA:48431 |
Dilated Cardiomyopathy With Ataxia |
|
3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Seizure, Elevated hepatic transami... |
ORPHA:66634 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Short stature, Elevated hepatic transaminase,... |
ORPHA:98907 |
Ogden Syndrome |
|
Metatarsus valgus, Delayed cranial suture closure, Broad hallux, Global glomerulosclerosis, Promi... |
OMIM:300855 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Renal cell carcinoma, Hepatic steatosis... |
ORPHA:189427 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Elevated hepatic tra... |
OMIM:608594 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:300972 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Abnormality of the liver, Seizure, Short stature, A... |
ORPHA:1667 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Seizure, Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Splen... |
OMIM:269920 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Left ventricular hypertrophy, Seizure, Hypercholesterolemia |
ORPHA:90065 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Sei... |
ORPHA:391428 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Seizure, Recurrent hypoglycemia |
OMIM:202200 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Pancr... |
ORPHA:280365 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Seizure, Short stature, Neurogenic b... |
OMIM:608779 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia, Aplastic clavicle, Seizure, Aplasia/hypoplasia of the femur, Clinodactyly of the 5... |
ORPHA:2769 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Hepatoblastoma, Elevated circulating alpha-fetoprotein concentration, Hypo... |
ORPHA:116 |
Werner Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ... |
OMIM:277700 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Dif... |
ORPHA:2137 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a... |
ORPHA:98908 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Generalized clonic seizure, Hyperalaninemia, Seizure, Hypoglutaminemia, Hypertaur... |
ORPHA:3008 |
D-Bifunctional Protein Deficiency |
|
Delayed cranial suture closure, Very long chain fatty acid accumulation, Seizure, Increased circu... |
OMIM:261515 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Seizure, Myoclonus, Status epilepticus, Neonatal hypoglycemia, Elevated circulatin... |
OMIM:619055 |
Monosomy 13Q34 |
|
Insulin resistance, Postaxial foot polydactyly, Hepatic steatosis, Hypercalcemia, Growth delay, P... |
ORPHA:96168 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Moderate postnatal growth ret... |
ORPHA:69076 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Alagille Syndrome 1 |
|
Renal dysplasia, Hepatocellular carcinoma, Elevated hepatic transaminase, Hypercholesterolemia, V... |
OMIM:118450 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Seizure, Hyponatremia |
OMIM:608688 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Seizure, Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling, Re... |
OMIM:614862 |
Wilson Disease |
|
Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Join... |
ORPHA:905 |
Aromatase Deficiency |
|
Genu valgum, Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Hepatic ... |
ORPHA:91 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Seizure, Hyperbi... |
OMIM:614300 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Wide anterior fontanel, Seizure, Elevated circulating tetracosanoic acid concentration, Jaundice,... |
OMIM:614872 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Seizure, Short stature, Delayed puberty, Recurrent hypoglycemia, Growth delay, Renal hypoplasia, ... |
OMIM:616817 |
Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Long penis, Postprandial hyperglycemia, Cholestasis, Pancreat... |
OMIM:246200 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Seizure, Hepatocellular necrosis, Unconjugated hyperbilirubinem... |
OMIM:618278 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia... |
OMIM:602579 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Seizure, Abnormality of the kidney, Hypospa... |
ORPHA:1194 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Arthropathy, Glucose intolerance, Hepatocellular carcinoma, Elev... |
OMIM:235200 |
Visceral Steatosis, Congenital |
|
Renal steatosis, Seizure, Jaundice, Hepatic steatosis, Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Orthostatic Hypotension 1 |
|
Seizure, Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Hypoglycemia, Impaired histidine renal tubular absorption |
ORPHA:2158 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly... |
OMIM:616860 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly |
OMIM:618398 |
Temple Syndrome |
|
Type II diabetes mellitus, Short stature, Recurrent hypoglycemia, Postnatal growth retardation |
ORPHA:254516 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Hepatic fibrosis, Generalized-onset seizure, Seizure, Nephrotic syndrome, E... |
OMIM:212065 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Myoclonic seizure, 3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, H... |
OMIM:618329 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Methioninuria, Seizure, Hyperhomocystinemia, Hepatic steatosis, Arachnodactyl... |
OMIM:236200 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, ... |
ORPHA:275761 |
Insulinoma |
|
Hyperinsulinemia, Seizure, Nonketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Reactive hypog... |
ORPHA:97279 |
Silver-Russell Syndrome 2 |
|
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia |
OMIM:618905 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Endocrine-Cerebroosteodysplasia |
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Microphallus, Enlarged kidney, Brachydactyly, Syndactyly, Hypospadias, Preaxial polydactyly, Sand... |
OMIM:612651 |
Pituitary Stalk Interruption Syndrome |
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Seizure, Short stature, Hypoplasia of penis, Delayed puberty, Hypoglycemia |
ORPHA:95496 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Hypospadias, Renal salt wasting, Hypoglycemia |
OMIM:201910 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:66628 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
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Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Renal insufficiency, Hyperammonemia, Hepatomegaly |
ORPHA:28 |
Nephrotic Syndrome, Type 1 |
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Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... |
OMIM:256300 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Aminoaciduria, Seizure, Joint contracture of the hand, Polycystic kidney dysplasia, Jaundice, Cam... |
OMIM:214110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
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Hepatic steatosis |
OMIM:615119 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Elevated hepatic tran... |
OMIM:609015 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
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Hypoglycemia, Intrauterine growth retardation, Seizure, Multifocal seizures |
OMIM:616355 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Patent ductus arteriosus, Upper limb undergrowth, Congenital megaureter, Generalized non-motor (a... |
ORPHA:369837 |
Argininemia |
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Seizure, Portal fibrosis, Oroticaciduria, Diaminoaciduria, Micronodular cirrhosis, Cholestasis, H... |
OMIM:207800 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Aminoaciduria, Seizure, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis, Hepatomegaly, D... |
ORPHA:436271 |
Biliary Atresia, Extrahepatic |
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Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Galactosemia I |
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Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased ... |
OMIM:230400 |
Pearson Syndrome |
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Elevated hepatic transaminase, Lacticaciduria, Hepatic steatosis, Hepatomegaly, Splenomegaly, Pos... |
ORPHA:699 |
Igg4-Related Kidney Disease |
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Nephrotic range proteinuria, Sclerosing cholangitis, Renal interstitial immunoglobulin deposits, ... |
ORPHA:449395 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hepatic steatosis, Seizure, Decreased liver function |
ORPHA:70472 |
Insulin-Resistance Syndrome Type B |
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Biliary cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnor... |
ORPHA:2298 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Patent ductus arteriosus, Polydactyly, 3-Methylglutaconic aciduria, Seizure, Methylmalonic acidem... |
ORPHA:17 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:179494 |
Silver-Russell Syndrome 1 |
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Nephroblastoma, Congenital posterior urethral valve, Hepatocellular carcinoma, Abnormality of the... |
OMIM:180860 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Seizure, Diabetes mellitus, Delayed puberty, Hypoglycemia, Severe postnatal growth retardation, P... |
ORPHA:391408 |
Hypercholesterolemia, Familial, 3 |
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Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Aredyld Syndrome |
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Short stature, Type II diabetes mellitus, Intrauterine growth retardation, Type I diabetes mellit... |
ORPHA:1133 |
Interstitial Lung And Liver Disease |
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Aminoaciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cir... |
OMIM:615486 |
Leber Congenital Amaurosis 1 |
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Hyperthreoninemia, Hyperthreoninuria, Growth delay, Hepatomegaly |
OMIM:204000 |
Congenital Rubella Syndrome |
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Patent ductus arteriosus, Seizure, Short stature, Jaundice, Type I diabetes mellitus, Hepatomegal... |
ORPHA:290 |
Monocarboxylate Transporter 1 Deficiency |
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