Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal glycosylation, Decreased circulating cerulo... |
OMIM:616828 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... |
OMIM:610600 |
Late-Onset Familial Hypoaldosteronism |
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Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Abnormal protei... |
OMIM:616829 |
Morgagni-Stewart-Morel Syndrome |
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Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur... |
ORPHA:77296 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
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Cerebellar atrophy, Abnormal glycosylation |
OMIM:615596 |
Cystinuria |
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Hyperuricemia, Abnormality of amino acid metabolism |
ORPHA:214 |
Tyrosinemia Type 2 |
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Ataxia, Abnormality of amino acid metabolism |
ORPHA:28378 |
Obesity Due To Sim1 Deficiency |
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Low levels of vitamin B1, Hyperinsulinemia, Glucose intolerance, Attention deficit hyperactivity ... |
ORPHA:369873 |
Classic Homocystinuria |
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Elevated hepatic transaminase, Hepatomegaly, Abnormality of amino acid metabolism, Anorexia |
ORPHA:394 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Ataxia, Abnormality of amino acid metabolism |
ORPHA:220295 |
Fructosuria, Essential |
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Impairment of fructose metabolism |
OMIM:229800 |
Hjv Or Hamp-Related Hemochromatosis |
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Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Fructose And Galactose Intolerance |
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Fructose intolerance, Galactose intolerance, Hypoglycemia |
OMIM:229500 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Galactose Epimerase Deficiency |
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Hepatomegaly, Splenomegaly, Jaundice, Impairment of galactose metabolism, Aminoaciduria |
ORPHA:79238 |
Gracile Syndrome |
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Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Obesity |
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Decreased resting energy expenditure |
OMIM:601665 |
Hemochromatosis, Neonatal |
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Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Lipodystrophy, Familial Partial, Type 6 |
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Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Galactose Mutarotase Deficiency |
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Hepatomegaly, Impairment of galactose metabolism, Cholestasis, Hypergalactosemia, Decreased liver... |
ORPHA:570422 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Maternally-Inherited Diabetes And Deafness |
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Aplasia/Hypoplasia of the cerebellum, Abnormal circulating lipid concentration, Ataxia, Type II d... |
ORPHA:225 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Elevated hepatic transaminase, Abnormal glycosylation, Diffuse cerebral atrophy, Decreased circul... |
OMIM:617395 |
Slc35A2-Cdg |
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Cerebellar atrophy, Elevated hepatic transaminase, Abnormal glycosylation, Increased circulating ... |
ORPHA:356961 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
Essential Fructosuria |
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Hyperglycemia, Impairment of fructose metabolism |
ORPHA:2056 |
Aspartylglucosaminuria |
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Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Abnormality of amino acid metabolism |
ORPHA:93 |
X-Linked Sideroblastic Anemia |
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Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Diabetes mellitus, Abnormal circulating lipid concentration, Hepatic steatosis |
OMIM:608709 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Iron Overload, Susceptibility To |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Decreased circulating aldoste... |
ORPHA:320 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Kennedy Disease |
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Abnormal circulating lipid concentration, Gait disturbance, Type II diabetes mellitus, Testicular... |
ORPHA:481 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Abn... |
ORPHA:71 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Abnormal circulating vitamin A concentration, Hepatitis, Cholestasis, Incre... |
ORPHA:209902 |
Secondary Short Bowel Syndrome |
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Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Abn... |
ORPHA:95427 |
Hypermanganesemia With Dystonia 1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Incr... |
OMIM:613280 |
Aceruloplasminemia |
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Abnormal dentate nucleus morphology, Decreased circulating ceruloplasmin concentration, Decreased... |
ORPHA:48818 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir... |
ORPHA:2298 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Hemochromatosis, Type 5 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Decreased resting energy expendi... |
ORPHA:404454 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Genetic Hyperferritinemia Without Iron Overload |
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Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Familial Cervical Artery Dissection |
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Diabetes mellitus, Abnormal circulating lipid concentration |
ORPHA:36382 |
Fructose Intolerance, Hereditary |
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Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Fructose into... |
OMIM:229600 |
Beta-Thalassemia |
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Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... |
ORPHA:848 |
Stt3B-Cdg |
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Cerebellar atrophy, Abnormal glycosylation |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
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Cerebellar atrophy, Abnormal glycosylation |
OMIM:615597 |
Subaortic Stenosis-Short Stature Syndrome |
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Abnormal circulating lipid concentration, Biliary tract abnormality, Type II diabetes mellitus |
ORPHA:3191 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dysmetria, Dysdiadochokinesis, G... |
OMIM:616541 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jau... |
ORPHA:231226 |
Overlap Myositis |
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Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
Stt3A-Cdg |
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Cerebellar atrophy, Abnormal glycosylation |
ORPHA:370921 |
Developmental And Epileptic Encephalopathy 50 |
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Abnormal glycosylation, Broad-based gait, Hyperammonemia, Dysphagia, Global brain atrophy |
OMIM:616457 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Spl... |
ORPHA:231214 |
Griscelli Syndrome |
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Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Abnormal circulating lipid concentration |
ORPHA:381 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipoproteinemia |
ORPHA:1979 |
Primary Biliary Cholangitis |
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Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H... |
ORPHA:186 |
Stiff Skin Syndrome |
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Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Apolipoprotein A-I Deficiency |
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Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration |
ORPHA:425 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Abnormality of vitamin metabolism, Hypoalbuminemia, Hypocalcemia, Hypomagnes... |
ORPHA:90362 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
Trichohepatoenteric Syndrome 1 |
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Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... |
OMIM:222470 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Pancreatoblastoma, Anorexia, Pituitary corticotropic cell adenoma, Pancreati... |
ORPHA:99889 |
African Trypanosomiasis |
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Hepatomegaly, Akinesia, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, J... |
ORPHA:3385 |
Cushing Disease |
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Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr... |
ORPHA:96253 |
Syndromic Diarrhea |
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Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of the thymus,... |
ORPHA:84064 |
Fabry Disease |
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Anorexia, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid concentration, Diabetes ins... |
ORPHA:324 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance |
OMIM:301020 |
Isolated Complex I Deficiency |
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Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Lethargy |
ORPHA:2609 |