Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Elevated c... |
OMIM:619874 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Pruritus, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Sto... |
ORPHA:3111 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Increased muscle glycogen content, Hyperurice... |
OMIM:261750 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, V... |
OMIM:606528 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Pru... |
OMIM:243300 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid... |
ORPHA:411543 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... |
OMIM:608709 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Pruritus, Cholel... |
OMIM:605479 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma,... |
OMIM:232200 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Chronic constipat... |
ORPHA:261222 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... |
OMIM:614736 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... |
OMIM:620357 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... |
OMIM:616026 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Diarrhea, Chronic kidney disease, Hyper... |
ORPHA:469 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... |
OMIM:229600 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... |
OMIM:137920 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Diarrhea, ... |
ORPHA:348 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... |
OMIM:232800 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Pancreatic fibrosis, Hepa... |
OMIM:232220 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspar... |
OMIM:227810 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati... |
OMIM:610600 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Hyperactive renin-angiotensin system, P... |
OMIM:264350 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Hepatoblastoma, Chronic pancreatiti... |
OMIM:232240 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypoglycemia, Hypercalce... |
ORPHA:95409 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... |
ORPHA:276575 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan... |
ORPHA:79644 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... |
ORPHA:26792 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-r... |
ORPHA:79083 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Pruritus, In... |
OMIM:601847 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Vomiting, Decr... |
OMIM:203400 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Nephrolithiasis, Hyperuricemia, Hyperuricosuria |
OMIM:300322 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Elevated circulati... |
OMIM:261680 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased total bilirubin |
ORPHA:890 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepati... |
OMIM:614480 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... |
ORPHA:411634 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency, Vomiting |
OMIM:240200 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur... |
ORPHA:77296 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy... |
OMIM:235555 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Diarrhea, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Vomiting,... |
OMIM:602579 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Diarrhea, Hyperammonemia, Vomiting, Hyperuricemia, Hypergl... |
ORPHA:134 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... |
ORPHA:85138 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride... |
ORPHA:2088 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, ... |
ORPHA:79259 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatic steatosis, Necrotizing enterocolitis, Dicarboxylic aciduria, Hep... |
OMIM:201475 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract... |
ORPHA:361 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Acute pancreatit... |
ORPHA:20 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Pruritus, Abnormality of the pancreas, Pruritus on foot... |
ORPHA:69665 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Abnormality of the kidney... |
ORPHA:369 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Vomiting, Elevated urinar... |
OMIM:210200 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Pr... |
ORPHA:64743 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Vomiting, Medium chai... |
OMIM:201450 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... |
OMIM:615238 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Organic aciduria, Constipation |
ORPHA:35 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Hyperuricemia, Uric acid nephrol... |
OMIM:300661 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Vomiting, Hypoalbuminem... |
ORPHA:79319 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Gastrointestinal hemorrhage, Hyperuricemia |
ORPHA:35909 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglo... |
OMIM:231530 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Elevated circulat... |
ORPHA:94093 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal... |
ORPHA:90791 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting |
OMIM:620126 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia, Constipation |
ORPHA:526 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Stage 3 chronic kidney disease, Hyperparathyroidis... |
OMIM:620366 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteroni... |
OMIM:177735 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... |
ORPHA:427 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr... |
OMIM:619484 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... |
ORPHA:85450 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph... |
ORPHA:213 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... |
OMIM:266200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... |
OMIM:239000 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m... |
ORPHA:79086 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:612653 |
Hyperbiliverdinemia |
|
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir... |
ORPHA:230 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia, Nephroblastoma |
ORPHA:2849 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Vomiting, He... |
ORPHA:264580 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Hypogonadism, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Cholestasis, Abnormal intrahe... |
ORPHA:562639 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperpro... |
ORPHA:90041 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Gastroesophageal reflux, Constipation, Primary ... |
ORPHA:300536 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Retinitis Pigmentosa |
|
Hypogonadism, Hypoplasia of penis, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Pruritus, Atretic gal... |
ORPHA:30391 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Vomiting, ... |
OMIM:278000 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun... |
OMIM:618892 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res... |
ORPHA:528 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ... |
OMIM:608836 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Spherocytosis, Type 2 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616649 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia,... |
OMIM:246200 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... |
OMIM:201810 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... |
ORPHA:521219 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis |
OMIM:602722 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:619685 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... |
OMIM:615710 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Liddle Syndrome 1 |
|
Hypokalemia, Renal insufficiency, Decreased circulating aldosterone level, Decreased circulating ... |
OMIM:177200 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Vo... |
OMIM:615453 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad... |
OMIM:617053 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... |
ORPHA:320 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Chronic diarrhea, Elevated circulating alanine aminotransferase concentration, Hypo... |
OMIM:618805 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... |
OMIM:304790 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin res... |
OMIM:615381 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Vomiting, Hepatic fi... |
ORPHA:275761 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Interstitial Lung And Liver Disease |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Pruritus, Jaundice, Hepatic failure, Biliary ... |
ORPHA:186 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis... |
OMIM:608612 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinos... |
ORPHA:445038 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal... |
ORPHA:288 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi... |
ORPHA:2348 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux... |
OMIM:619377 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Vomiting, Premat... |
ORPHA:90794 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:412 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran... |
ORPHA:681 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... |
ORPHA:169160 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... |
OMIM:619013 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... |
ORPHA:2126 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Hyperbilirubinemia |
OMIM:609734 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent urinary tract infections, Renal insuf... |
OMIM:619487 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper... |
ORPHA:1667 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Pruritus, Splenomegaly... |
OMIM:613471 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Nausea, Hematemesis, Diar... |
ORPHA:340 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... |
ORPHA:191 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma, Penile freckling |
ORPHA:210548 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Macrocytic anemia,... |
OMIM:615578 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase a... |
ORPHA:423 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephroc... |
ORPHA:18 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:95715 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Nausea, Pancreatitis, Diarrhea, Hyperkalemia, Oliguria, ... |
ORPHA:544482 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Long... |
ORPHA:769 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:611590 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem... |
OMIM:615751 |
Hereditary Spherocytosis |
|
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... |
ORPHA:228426 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Splenomegaly,... |
ORPHA:829 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Hyperbilirubinemia, Elevated circulating long chain fatty acid con... |
OMIM:614886 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Hepatic steatosis, Abnormality of the urinary system, Megacystis |
ORPHA:977 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Hyperkalemi... |
ORPHA:682 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Bloody diarrhea |
OMIM:615119 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ... |
ORPHA:3202 |
Leprechaunism |
|
Hepatomegaly, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyro... |
ORPHA:508 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... |
ORPHA:98870 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia,... |
OMIM:617671 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Neutropenia, Hepatitis, Chronic hepatitis, Sclerosi... |
OMIM:308230 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov... |
OMIM:618329 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Diarrhea, Abnormal blood ion concentr... |
ORPHA:173 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre... |
OMIM:603553 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Thromboc... |
ORPHA:381 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Perineal hy... |
ORPHA:66634 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I d... |
OMIM:613385 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Dominant Beta-Thalassemia |
|
Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:231226 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... |
OMIM:612780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu... |
ORPHA:31826 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Proteinuria, Hypergonadotropic hy... |
OMIM:212065 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Diarrhea, Vomiting, Steat... |
ORPHA:71 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Skin rash, Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated hepatic tr... |
ORPHA:542323 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Dia... |
ORPHA:298 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g... |
OMIM:300908 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Skin rash, Increased total bilirubin |
ORPHA:90036 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hypokalemia, Adren... |
ORPHA:231632 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating creatine kinase co... |
ORPHA:52430 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Fetal pyelectasis, Hematochezia, Hepatic steatosis |
ORPHA:96168 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Bronchiectasis, Hepatitis, Neutrope... |
ORPHA:1163 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis, Pancre... |
OMIM:236200 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Decreased serum testosterone concentration, Hepatic steatosis, Neo... |
ORPHA:2959 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95716 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Diabetes mellitus, Liver abscess, Cholangitis, Psoriasiform d... |
ORPHA:183675 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Glycosuria, H... |
ORPHA:589 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... |
OMIM:610199 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Gastroesophageal reflux, Decreased liver function, Dysphagia |
ORPHA:70472 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... |
OMIM:248370 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... |
OMIM:256810 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Thrombocytopenia, Hepatitis, Leukopenia, Conjunctivitis... |
ORPHA:454836 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepat... |
OMIM:606812 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus |
ORPHA:263297 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Diarrhea, Oliguria, Abnormal blood ion concentration, Hypophos... |
ORPHA:31824 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Granulocyto... |
OMIM:302060 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, Hypocalciuria, Increase... |
OMIM:263800 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphopenia, Infectio... |
ORPHA:549 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227990 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:224120 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level,... |
OMIM:219090 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic i... |
OMIM:619991 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529808 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227982 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... |
ORPHA:369929 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:619418 |
Friedreich Ataxia |
|
Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity |
OMIM:229300 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... |
ORPHA:488627 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem... |
OMIM:613673 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Vipoma |
|
Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochez... |
ORPHA:97282 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic... |
ORPHA:3008 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diarrhea, Peritonitis, Elevated circulating creatinine concentration, Blood... |
ORPHA:90038 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Rh Deficiency Syndrome |
|
Jaundice, Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mitochondrial swelling |
ORPHA:397744 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Necrotizing Enterocolitis |
|
Hyponatremia, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Hyp... |
ORPHA:391673 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Precocious puberty, Hyperlipidemia, Hypothyroidism |
ORPHA:254346 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Vo... |
ORPHA:466650 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D... |
ORPHA:280365 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin syste... |
OMIM:214700 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... |
ORPHA:2552 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... |
ORPHA:3464 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased L... |
ORPHA:14 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97283 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepatic failure... |
ORPHA:746 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abnorma... |
ORPHA:97214 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
3-Methylglutaconic Aciduria, Type Viib |
|
3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka... |
OMIM:617913 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Mercury Poisoning |
|
Hypokalemia, Acute kidney injury, Episodic vomiting, Nausea |
ORPHA:330021 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hypospadias |
OMIM:175700 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia |
OMIM:608885 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... |
OMIM:311250 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Zygomycosis |
|
Fasciitis, Sinusitis, Diabetes mellitus, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonit... |
ORPHA:73263 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I... |
ORPHA:436252 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Hypoglycemia, Portal hypertens... |
OMIM:613658 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Ma... |
ORPHA:562 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly... |
OMIM:607330 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatic failure |
OMIM:259720 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, El... |
OMIM:616433 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:614866 |
Atypical Werner Syndrome |
|
Renal neoplasm, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating ... |
ORPHA:79474 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... |
ORPHA:83471 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatic steatosis, Atrophic gastritis, Hepatomegaly, Hematemesis, Increased circulating ferritin ... |
OMIM:615846 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Hyperbi... |
OMIM:557000 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Infecti... |
ORPHA:319251 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
Tenorio Syndrome |
|
Hypoglycemia, Enuresis, Gastroesophageal reflux, Recurrent aphthous stomatitis, Hypoinsulinemia |
OMIM:616260 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Neutropeni... |
OMIM:300755 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... |
OMIM:613610 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:90673 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steato... |
OMIM:616263 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:881 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, He... |
ORPHA:91 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Neutrophilia, Cholangitis, E... |
ORPHA:3260 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... |
OMIM:614946 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure |
ORPHA:415 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thr... |
OMIM:251110 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Hepatitis, Cheilitis, Arthritis, Co... |
ORPHA:2331 |
Atelis Syndrome 2 |
|
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... |
ORPHA:90674 |
Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Elevated circulatin... |
ORPHA:466677 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... |
OMIM:619573 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Chronic lymphatic leukem... |
ORPHA:91139 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Dend Syndrome |
|
Hyperglycemia, Vomiting, Elevated hemoglobin A1c |
ORPHA:79134 |
Yellow Fever |
|
Acute pancreatitis, Skin rash, Elevated circulating aspartate aminotransferase concentration, Ele... |
ORPHA:99829 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstiti... |
ORPHA:289390 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, He... |
ORPHA:90062 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly |
ORPHA:168577 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased proportion o... |
OMIM:619381 |
Smith-Lemli-Opitz Syndrome |
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Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterolemia, Micropenis, ... |
OMIM:270400 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Abnormality of the liver, Hyperbilirubinemia |
ORPHA:464321 |
Alkaptonuria |
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Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Cirrhosis, Familial |
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Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis |
OMIM:215600 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes... |
ORPHA:534 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic steatosis |
OMIM:619321 |
Medullary Thyroid Carcinoma |
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Abnormal liver parenchyma morphology |
ORPHA:1332 |
Triploidy |
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Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... |
ORPHA:404454 |
Digeorge Syndrome |
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Hepatic steatosis, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decrease... |
OMIM:188400 |
Methylmalonic Aciduria, Cbla Type |
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Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thr... |
OMIM:251100 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity, Increased me... |
OMIM:277410 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Bloom Syndrome |
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Elevated hemoglobin A1c, Hepatic steatosis, Type II diabetes mellitus |
OMIM:210900 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Ogden Syndrome |
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Eczema, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Hyperbiliru... |
OMIM:300855 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Short Syndrome |
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Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Peutz-Jeghers Syndrome |
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Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder |
ORPHA:2869 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis, Constipation, Gastroesophageal reflux, Urinary incontinence |
OMIM:619934 |
Postinfectious Vasculitis |
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Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Gaucher Disease |
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Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Thrombocytopenia, Hepati... |
ORPHA:355 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco... |
OMIM:618278 |
Marburg Hemorrhagic Fever |
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Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Elevated circulating creatine k... |
ORPHA:99826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Hypospadias, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hep... |
OMIM:220111 |
Rett Syndrome |
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Increased serum pyruvate, Cholecystitis, Hyperammonemia |
ORPHA:778 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Microvesicular hepatic s... |
OMIM:300868 |
Friedreich Ataxia 2 |
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Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Jaundice, Hepatic steatosis, Hyperbilirubinemia |
OMIM:619475 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... |
ORPHA:91347 |
Triosephosphate Isomerase Deficiency |
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Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Leptospirosis |
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Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... |
ORPHA:509 |
Congenital Erythropoietic Porphyria |
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Recurrent bacterial skin infections, Pruritus, Abnormal circulating porphyrin concentration, Sple... |
ORPHA:79277 |
Degcags Syndrome |
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Hepatomegaly, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Hyperbilirubinemia |
OMIM:619488 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating g... |
ORPHA:79318 |
Fucosidosis |
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Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Genitopalatocardiac Syndrome |
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Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Occipital Horn Syndrome |
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Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
1P36 Deletion Syndrome |
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Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of th... |
ORPHA:1606 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Romano-Ward Syndrome |
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Hypokalemia |
ORPHA:101016 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation |
OMIM:608022 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Ureteral duplication, Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hypergl... |
OMIM:600001 |
Hereditary Hemorrhagic Telangiectasia |
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Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Mosaic Trisomy 9 |
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Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Lujo Hemorrhagic Fever |
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Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... |
ORPHA:319213 |
Juvenile Polyposis Syndrome |
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Hematochezia, Hypokalemia, Hypoalbuminemia, Diarrhea |
OMIM:174900 |
Vacterl/Vater Association |
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Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent urinary tract infections, Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, ... |
ORPHA:3455 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:210710 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Portal hyperten... |
OMIM:619503 |
Leukocyte Adhesion Deficiency |
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Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, R... |
ORPHA:2968 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:620186 |
Listeriosis |
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Unusual skin infection, Liver abscess, Pustule, Jaundice, Peritonitis, Hepatic granulomatosis, Ch... |
ORPHA:533 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Hepatomegaly, Hepatic failure |
ORPHA:255210 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Sarcoidosis |
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Hepatomegaly, Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Portal hypertension, Eryth... |
ORPHA:797 |
Metachromatic Leukodystrophy, Adult Form |
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Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Gastroesoph... |
ORPHA:444077 |
Paroxysmal Nocturnal Hemoglobinuria |
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Decreased serum iron, Jaundice, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, R... |
ORPHA:447 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methionine synthase activity, Megaloblastic anemia, Neutropenia, Decreased methylmalony... |
OMIM:277400 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Cholecystitis |
ORPHA:309256 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Metachromatic Leukodystrophy, Juvenile Form |
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Cholecystitis |
ORPHA:309263 |
Neurooculorenal Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:620305 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Increased VLDL chole... |
OMIM:243800 |
Igg4-Related Kidney Disease |
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Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Retr... |
ORPHA:449395 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Hypokalemia, Hyperthyroidism |
OMIM:170390 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Gastroesophageal reflux, Hypokalemia, Vomiting |
OMIM:618426 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Erythema no... |
ORPHA:99827 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concentration |
ORPHA:818 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia |
ORPHA:286 |