| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Short stature, Hypog... |
ORPHA:369 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... |
OMIM:613313 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... |
OMIM:300635 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... |
OMIM:619858 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo... |
OMIM:613759 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Ataxia, Short stature, Congenital hepatic fibrosis, Cry... |
ORPHA:2377 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating lactat... |
ORPHA:158061 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic failure, Hepatic ... |
OMIM:616719 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus a... |
ORPHA:280356 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... |
ORPHA:48818 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... |
OMIM:201475 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Ataxia, Short stature, Congenital hepatic fibrosis, Chronic kidn... |
ORPHA:3156 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... |
OMIM:603552 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... |
ORPHA:26792 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance |
OMIM:618400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin... |
OMIM:619048 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fi... |
ORPHA:466794 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Glycosuria, E... |
OMIM:231680 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Mildly elevated creatine kinase |
ORPHA:457050 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... |
ORPHA:79319 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen... |
ORPHA:264580 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Ob... |
OMIM:615630 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hypogonadism,... |
OMIM:616629 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Growth delay, Aminoaciduria, Elevated hepatic iron concentration, I... |
OMIM:614946 |
| Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... |
ORPHA:829 |
| Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Ataxia, Postnatal gro... |
OMIM:610198 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovar... |
OMIM:246200 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbumine... |
OMIM:602579 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Obesity, Nephro... |
ORPHA:110 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Gait disturbance, Difficulty walking, Elevated creatine kinase af... |
ORPHA:352470 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Hyperammonemia, ... |
ORPHA:292 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Carcinoid Syndrome |
|
Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration, Hepatic necrosis |
ORPHA:100093 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... |
ORPHA:848 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... |
OMIM:606003 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex I, Hepatomegaly, Failure to thrive, Macrovesicular he... |
OMIM:618234 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, External genital hypoplasia, Elevated circul... |
ORPHA:79322 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis... |
OMIM:612526 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... |
OMIM:618805 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Hepatic fibrosis, Portal hypertension, Abnormally low T cell receptor excision circ... |
OMIM:617341 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... |
OMIM:608709 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:171 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... |
ORPHA:2137 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Abnormal reproductive system morphology, Inability to walk, Decreased activity of mitocho... |
ORPHA:70472 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... |
OMIM:238970 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, A... |
OMIM:304790 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Unilateral renal agenes... |
OMIM:216360 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Abnormal... |
ORPHA:381 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... |
ORPHA:33110 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st... |
ORPHA:436182 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Proteinuria... |
OMIM:619487 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hepati... |
OMIM:615996 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti... |
ORPHA:30391 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Ataxia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:207900 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,... |
ORPHA:37042 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Short stature, Postnatal growth ret... |
OMIM:616263 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy |
ORPHA:100024 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean c... |
OMIM:127550 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased cir... |
ORPHA:168558 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Preeclampsia |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Abnormality of the ... |
ORPHA:275555 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat... |
ORPHA:199296 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased cir... |
ORPHA:289548 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, B... |
OMIM:619063 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... |
OMIM:300868 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Hepatitis, Chronic hepati... |
OMIM:308230 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmo... |
OMIM:209950 |
| Rotor Syndrome |
|
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp... |
ORPHA:3111 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... |
ORPHA:540 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased activity of mitochond... |
OMIM:618835 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... |
ORPHA:228426 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased activity of mitochond... |
OMIM:618839 |
| Congenital Myopathy 11 |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Abnormal activity of mitochondrial respi... |
OMIM:619967 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re... |
OMIM:615980 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Microscopic hematuria, Hepatic steatosis, Proteinuria |
ORPHA:79087 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,... |
OMIM:613490 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Decreased activity... |
OMIM:613662 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Decreased activity of mitochondrial complex IV, Gait ataxia, Weight loss, Aminoaciduria... |
OMIM:612075 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Failure to thrive, Hep... |
ORPHA:300536 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hypospadias, Small for gestational age, Short stature, Splenomeg... |
OMIM:222470 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... |
OMIM:614857 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane... |
OMIM:226990 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
| Joubert Syndrome 6 |
|
Ataxia, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis |
OMIM:610688 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormality of chromosome stability, Failure to thrive, Ataxia, Sh... |
ORPHA:100 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| Adrenomyodystrophy |
|
Short stature, Failure to thrive, Hepatic steatosis, Megacystis |
ORPHA:977 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Ataxia, Insulin resistance, Biliary tract abnormali... |
OMIM:209900 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope... |
ORPHA:1163 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:42642 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia, Histiocytosis |
ORPHA:157991 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia, Ci... |
ORPHA:363400 |
| Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hy... |
ORPHA:90062 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Oligomenorrhea, He... |
OMIM:613877 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphop... |
ORPHA:549 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Broad-based... |
ORPHA:14 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
| Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Huntington Disease-Like 1 |
|
Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing |
ORPHA:157941 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope... |
OMIM:301078 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Macrocytic anemia,... |
OMIM:615578 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... |
ORPHA:562 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sk... |
OMIM:603553 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cystic liver disea... |
OMIM:612284 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Renal salt wasting, Precocious puberty, Cryptorchidism, Hyper... |
ORPHA:361 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchid... |
OMIM:615381 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... |
ORPHA:99901 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... |
OMIM:300752 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... |
OMIM:615160 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Hypercalcemia, Eosinophilia, Hy... |
ORPHA:199299 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Amino... |
OMIM:606812 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... |
OMIM:602347 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Ataxia, Weight loss |
ORPHA:391 |
| Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... |
ORPHA:2088 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Weight loss |
ORPHA:248111 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
| Melioidosis |
|
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... |
ORPHA:31202 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Weight l... |
ORPHA:2126 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I d... |
OMIM:613385 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... |
ORPHA:91138 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Adrenocorticotropic hormone excess |
ORPHA:100083 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dys... |
OMIM:614091 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:619518 |
| Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
| Rhabdoid Tumor |
|
Hematuria, Neoplasm of the liver, Hypercalcemia, Weight loss |
ORPHA:69077 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
| Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Renal hypoplasia, Abnormali... |
ORPHA:84064 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227990 |
| Nephronophthisis 11 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Hepatic fib... |
OMIM:613550 |
| Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Granulocyto... |
OMIM:302060 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl... |
OMIM:617156 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Hyperglycinuria, Hyperammonemia, Anemia, Hyperg... |
OMIM:606054 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... |
ORPHA:1454 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Abnormal mitochondrial shape... |
ORPHA:17 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum... |
OMIM:619013 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, ... |
ORPHA:731 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Abnormal posturing |
ORPHA:216866 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227982 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex IV, Decreased activ... |
OMIM:616672 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Splenomegaly, Increased circulati... |
OMIM:235200 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Poly... |
ORPHA:79085 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Growth de... |
OMIM:243910 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Glycosuria, H... |
ORPHA:589 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Abnormal circulating creatine kinase ... |
ORPHA:369840 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Growth delay, Hypocholesterolemia, Increased... |
ORPHA:71 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... |
OMIM:620005 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Diabetic ketoacidosis, Hepatic steato... |
OMIM:615238 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... |
ORPHA:98907 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Renal tubular dysfunction, Aminoaciduria, R... |
ORPHA:436271 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Short stature, P... |
OMIM:208500 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, ... |
ORPHA:470 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst |
ORPHA:2031 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Thrombocytopenia |
OMIM:224230 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:26790 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis, Penile freckling |
ORPHA:210548 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... |
OMIM:210900 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
| Huntington Disease-Like 2 |
|
Bradykinesia, Weight loss |
OMIM:606438 |
| Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Weight loss |
ORPHA:654 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ... |
OMIM:608836 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... |
ORPHA:183675 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
| Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
| Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes ... |
ORPHA:1133 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... |
OMIM:620138 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure to thrive |
ORPHA:1842 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Weight loss |
ORPHA:30925 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... |
ORPHA:1332 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, El... |
OMIM:235555 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Failure to thrive, Ataxia, Cholangitis, Short stature, Rhizom... |
OMIM:266920 |
| Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Thrombocytopenia |
ORPHA:974 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Elevated circulating creatine kinase concentration |
ORPHA:352447 |
| Mednik Syndrome |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... |
OMIM:609313 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Weight los... |
ORPHA:171876 |
| Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... |
ORPHA:435660 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase |
ORPHA:397744 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Decreased activity... |
OMIM:611126 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Short stature, Elevated circulating creatine kinase concentration, Urinary bladder... |
ORPHA:52430 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... |
OMIM:616026 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration |
ORPHA:353 |
| Huntington Disease |
|
Inability to walk, Weight loss, Bradykinesia, Abnormal circulating cholesterol concentration, Gai... |
ORPHA:399 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Cachexia, Dysmetria, Gait ataxia |
OMIM:618093 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hyperammonemia, Hypoglycemia, Pancreatitis, Decreased activity of mitochondrial complex III |
OMIM:620137 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Olig... |
ORPHA:435651 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Premature ovarian insu... |
ORPHA:2959 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac... |
ORPHA:398124 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:602541 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resist... |
ORPHA:2348 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
| Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinem... |
ORPHA:79237 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... |
ORPHA:2552 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Tip-toe gait, Hypocalcemia, Diffus... |
ORPHA:746 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Low cholesterol esterificat... |
OMIM:257220 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... |
ORPHA:159 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Tubulointerstitia... |
OMIM:251000 |
| Moynahan Syndrome |
|
Short stature, Hypogonadism, Cachexia |
ORPHA:2574 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:615273 |
| Reticular Dysgenesis |
|
Failure to thrive, Abnormality of mitochondrial metabolism, Weight loss |
ORPHA:33355 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hom... |
OMIM:236200 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... |
OMIM:300755 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Growth delay, Hepatic failure |
ORPHA:75233 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Ectopic kidney, Cryptorchidism, Inability to walk, Unsteady gait, Abn... |
ORPHA:3063 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Intrauterine growth ret... |
ORPHA:254346 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Jaundice, Hyperlipidemia, Hepatosple... |
ORPHA:444490 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, ... |
OMIM:220110 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Microvesicu... |
ORPHA:66634 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Atrophic gastritis, Chilblains, Pneumonia, Skin ras... |
OMIM:615846 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Increased mitochondrial number, Abnormal circulating creatine kinase concentra... |
ORPHA:263297 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, ... |
ORPHA:3260 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... |
OMIM:500013 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... |
OMIM:251110 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr... |
OMIM:214500 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated circulating aspartate am... |
OMIM:617253 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Splenomegaly, Abnormality of the spleen, Limb ataxia, Hepatosplenomeg... |
ORPHA:2072 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
| Oculopharyngodistal Myopathy |
|
Loss of ambulation, Difficulty walking, Weight loss |
ORPHA:98897 |
| Attrv30M Amyloidosis |
|
Nephropathy, Impotence, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Choreoathetosis... |
ORPHA:445038 |
| Joubert Syndrome 1 |
|
Nephropathy, Ataxia, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Infectious enceph... |
ORPHA:319251 |
| Majeed Syndrome |
|
Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Splenomegaly, Weight loss, Microscopic he... |
ORPHA:77297 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Bile d... |
OMIM:618329 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... |
ORPHA:98908 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Pustule, Myocard... |
ORPHA:73263 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
ORPHA:412 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Nonketotic hy... |
ORPHA:20 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Decreased activity of mitochondrial complex I, Hy... |
OMIM:618250 |
| Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome... |
ORPHA:79259 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insuf... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insuf... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insuf... |
ORPHA:99226 |
| Turner Syndrome |
|
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insuf... |
ORPHA:881 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th... |
ORPHA:436252 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ... |
ORPHA:398063 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Ataxia, Proportionate short stature, Weight loss, Vesicoureteral reflux, Lo... |
ORPHA:3208 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Ataxia, Gait ataxia, Ambiguous genitalia, Failure to thrive, Clitor... |
ORPHA:543470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine... |
OMIM:615356 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Elevated gamma-glutamyltransfer... |
OMIM:619534 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery mor... |
ORPHA:284 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Renpenning Syndrome |
|
Severe short stature, Hypospadias, Diabetes mellitus, Cachexia, Growth delay, Decreased testicula... |
ORPHA:3242 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Decreased act... |
OMIM:615453 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice... |
OMIM:607625 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Growth delay, Hepatic steatosis |
ORPHA:96168 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Lethargy |
ORPHA:79242 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad... |
OMIM:243800 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice... |
ORPHA:348 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Growth delay, ... |
ORPHA:95427 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Pituitary adenoma, Primary hyperparathyroidism, Irregular menst... |
ORPHA:189427 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein conce... |
OMIM:612852 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... |
OMIM:214110 |
| Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co... |
ORPHA:2331 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Re... |
ORPHA:93111 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chro... |
OMIM:218330 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... |
ORPHA:813 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Ataxia, Short stature, Postnatal growth retardation, Weight loss, ... |
OMIM:212750 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
| Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Abnormality of the mitochondrion... |
ORPHA:3166 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperg... |
ORPHA:134 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemi... |
ORPHA:97289 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulatin... |
ORPHA:370348 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Short stature, Methylmaloni... |
ORPHA:1933 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:620300 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase activity, Sea-... |
OMIM:230600 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:2930 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Short stature, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney d... |
OMIM:311200 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Choreoathetosis, Growth delay, 3-Methylglutaconic aciduria, Intrauterine grow... |
OMIM:616271 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Hyperbil... |
OMIM:613673 |
| Polymyositis |
|
Hepatomegaly, Gait disturbance, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Elevated... |
ORPHA:67 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis |
OMIM:263520 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Parotitis, Glomerulonephritis, Lymphocytic... |
ORPHA:289390 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Chronic lymphatic leukem... |
ORPHA:91139 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... |
OMIM:617591 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Small scrotum, Small for gestational age, Slender build, Portal hy... |
OMIM:613658 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Urinary incontinence, Titubation, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing |
ORPHA:225147 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Ambiguous... |
OMIM:269860 |
| Gm1 Gangliosidosis |
|
Ataxia, Short stature, Splenomegaly, Unsteady gait, Hepatosplenomegaly, Weight loss, Abnormality ... |
ORPHA:354 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl... |
ORPHA:1979 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Ataxia |
ORPHA:97229 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100080 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... |
OMIM:610965 |
| Christianson Syndrome |
|
Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
| Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
| Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Weight loss, Hepatosplenomegaly, Decreased liver function |
ORPHA:98850 |
| Primary Myelofibrosis |
|
Hepatomegaly, Cachexia, Portal hypertension, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
| Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, We... |
ORPHA:85443 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... |
ORPHA:811 |
| H Syndrome |
|
Hypertriglyceridemia, Psoriasiform dermatitis, Diabetes mellitus, Microcytic anemia, Bronchiectas... |
ORPHA:168569 |
| Perry Syndrome |
|
Bradykinesia, Short stepped shuffling gait, Akinesia, Weight loss |
OMIM:168605 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Ac... |
OMIM:203700 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... |
OMIM:608594 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
| Shigellosis |
|
Hyponatremia, Acute colitis, Hypoglycemia, Abscess, Pneumonia, Myocarditis, Leukocytosis, Periton... |
ORPHA:810 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:188580 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Moderate albu... |
ORPHA:99885 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Insulin resistance, Erectile dysfunction |
ORPHA:3452 |
| Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:47612 |
| Tyrosinemia, Type Iii |
|
Hypertyrosinemia, Elevated hepatic transaminase |
OMIM:276710 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... |
ORPHA:319213 |
| Flynn-Aird Syndrome |
|
Ataxia, Type II diabetes mellitus, Cachexia |
ORPHA:2047 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation |
OMIM:616801 |
| Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97282 |
| Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor, Abnormal mitochondrial shape, Gait disturbance, Unsteady gait |
ORPHA:412217 |
| Alg9-Cdg |
|
Hepatomegaly, Rhizomelia, Ureteral hypoplasia, Periportal fibrosis, Bicornuate uterus, Hypoplasia... |
ORPHA:79328 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97283 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Elevated circulating growth hormone concentration, Weight loss |
ORPHA:97287 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Inability to walk, Nephrotic syndrome, Focal segmental g... |
OMIM:617303 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hy... |
ORPHA:90362 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:143 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:613239 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100082 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, D... |
ORPHA:280365 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Intrauteri... |
OMIM:619321 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Weight loss, Pancreatitis, Oliguria |
ORPHA:188 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Increased body weight, Leydig cell neoplasia, Ovarian sero... |
ORPHA:1359 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Choreoathetosis, Gait disturbance |
ORPHA:702 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... |
ORPHA:99829 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:275000 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Patent ductus arteriosus, Hep... |
OMIM:602782 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,... |
ORPHA:93126 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... |
ORPHA:217346 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Renal p... |
ORPHA:3337 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria, Gait disturbance |
ORPHA:2774 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Hypocalcemia, Cachexia |
ORPHA:1438 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Urinary incontinence, Cachexia, Head titubation, Inability to walk, Tip-toe gait, Difficu... |
ORPHA:300605 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Gout, Hyperuricemia, F... |
OMIM:232200 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration... |
ORPHA:36238 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Adrenocorticotropic hormone deficiency, Abno... |
ORPHA:1501 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepat... |
OMIM:270400 |
| Gerstmann-Straussler Disease |
|
Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia |
OMIM:137440 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:276621 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Decreased fert... |
ORPHA:60025 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Nodula... |
ORPHA:404454 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine grow... |
ORPHA:251071 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| X-Linked Creatine Transporter Deficiency |
|
Short stature, Ataxia, Cachexia, Abnormal circulating creatine concentration, Athetosis |
ORPHA:52503 |
| Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genitalia, female, Abnor... |
ORPHA:90794 |
| Fatal Familial Insomnia |
|
Urinary retention, Ataxia, Weight loss |
OMIM:600072 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia,... |
OMIM:232240 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Oxoglutaric Aciduria |
|
Short stature, Ataxia, Abnormality of Krebs cycle metabolism, Abnormal urine alpha-ketoglutarate ... |
ORPHA:31 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97280 |
| Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Hypercalcemia, Portal hype... |
ORPHA:797 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Giant Cell Arteritis |
|
Renal insufficiency, Ataxia, Weight loss, Hematuria, Hepatic failure |
ORPHA:397 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice... |
OMIM:613471 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, S... |
ORPHA:449395 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Short stature, Cachexia, Obesity, Hypogonadism, Decreased ... |
ORPHA:85293 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Fanconi Anemia |
|
Abnormality of chromosome stability, Hydroureter, Hypospadias, Renal insufficiency, Short stature... |
ORPHA:84 |
| Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Primary testicular failure, Premature ovarian insufficiency, De... |
ORPHA:85138 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Ataxia, Abnormality of Krebs cycle metabolism, Low plasma citrul... |
ORPHA:255210 |
| Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Weight loss, Growth delay, Delayed ... |
OMIM:614162 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased female libido, Hypoglycemia, Hypercalcemia, Renal sa... |
ORPHA:95409 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Weight loss |
ORPHA:100075 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing |
OMIM:128100 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Goiter |
ORPHA:142 |
| Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundice, Weight loss... |
ORPHA:160 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Ataxia, Retroperitoneal fibrosis, We... |
ORPHA:35687 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the spleen, Cryptorchidism, Obesi... |
ORPHA:1606 |
| Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulation |
ORPHA:99776 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Rett Syndrome |
|
Short stature, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia |
OMIM:312750 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Atypical Werner Syndrome |
|
Decreased body weight, Premature ovarian insufficiency, Hypertriglyceridemia, Failure to thrive, ... |
ORPHA:79474 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Renal insufficiency, Dysuria, ... |
ORPHA:36426 |
| Short Syndrome |
|
Diabetes mellitus, Insulin resistance, Severe short stature, Weight loss |
ORPHA:3163 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Glomerulonephritis, Elevated circulating ... |
ORPHA:1304 |
| Tetrasomy 12P |
|
Short stature, Cachexia |
ORPHA:884 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:371364 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Hepatic failure, Hydronephr... |
ORPHA:100078 |
| Occipital Horn Syndrome |
|
Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Reduced thyroxin-binding globulin, Insulin resistanc... |
ORPHA:79318 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Bifid scrotum, Broad-based gait, Hypospadias, Ataxia, Overweight, ... |
OMIM:619475 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Postnatal growth retardation, Abnormal postur... |
OMIM:242840 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Nephroti... |
ORPHA:29073 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Ataxia, Small for gestational age, Hypoglycemia, Microvesicular hepatic s... |
OMIM:220111 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... |
ORPHA:93271 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:29072 |
| Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral can... |
ORPHA:723 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Inc... |
OMIM:617099 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Spastic/hyperactive bladder, Weight loss, Bradykinesia, Shuffling gait |
ORPHA:411602 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
| Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Infertility... |
ORPHA:71273 |
| Riddle Syndrome |
|
Ataxia, Short stature, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna, W... |
ORPHA:420741 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Cholecystitis, Mo... |
ORPHA:99827 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react... |
ORPHA:900 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Arthritis... |
OMIM:260920 |
| Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hepatomegaly, Ataxia, Cryptorchidism, Renal hypopl... |
ORPHA:191 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial nephritis, Gait dist... |
ORPHA:183 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Proteinuria, Vaginal neoplasm, Chronic kidney disease, Stage 5 chronic kidney ... |
ORPHA:1018 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence |
OMIM:619934 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia, Mildly el... |
OMIM:607459 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Mucolipidosis Type Ii |
|
Short stature, Postnatal growth retardation, Inability to walk, Splenomegaly, Weight loss, Hepato... |
ORPHA:576 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Urinary retention, Hypogonadism, Del... |
ORPHA:1328 |
| Thymoma |
|
Glomerulonephritis, Prostate neoplasm, Weight loss |
ORPHA:99867 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Metrorrhagia, Weight loss |
ORPHA:520 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
| Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
| Poems Syndrome |
|
Diabetes mellitus, Weight loss, Hypogonadism, Erectile dysfunction, Increased circulating prolact... |
ORPHA:2905 |
| Tsh-Secreting Pituitary Adenoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypokalemia, Dela... |
ORPHA:91347 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Mild postnatal growth retardation, Hepatosplenomegaly |
ORPHA:85408 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Leukocytosis, Rec... |
ORPHA:99843 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Short stature, Maternal diabetes, Postnatal growth retardation, Microv... |
OMIM:300855 |
| Digeorge Syndrome |
|
Renal insufficiency, Parathyroid agenesis, Short stature, Unilateral renal agenesis, Splenomegaly... |
OMIM:188400 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocytoma, Pitu... |
ORPHA:652 |
| Pyomyositis |
|
Renal insufficiency, Weight loss, Testicular teratoma |
ORPHA:764 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Failure to thrive, Decreased response to growth hormone stimulation test, Porta... |
OMIM:619503 |
| Behçet Disease |
|
Renal insufficiency, Ataxia, Orchitis, Splenomegaly, Weight loss, Gait disturbance, Pancreatitis |
ORPHA:117 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
| Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:3455 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia |
ORPHA:424 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating C-reactive protein conc... |
ORPHA:50918 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Akinesia, Abnormality of the menstrual c... |
ORPHA:3385 |
| Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Enlarged lacrimal glands, Hypercalciuria, Weight loss, Abnormal saliv... |
OMIM:181000 |
| Rat-Bite Fever |
|
Pancreatitis, Parotitis, Weight loss |
ORPHA:31205 |
| Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
| Trisomy 18 |
|
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Abnormal ... |
ORPHA:3380 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Schwartz-Jampel Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the u... |
ORPHA:800 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
| Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Tu... |
ORPHA:79078 |
| Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Difficulty walking, Weight loss |
OMIM:164310 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Ataxia, Cachexia |
ORPHA:220295 |
| Nocardiosis |
|
Peritonitis, Liver abscess, Weight loss |
ORPHA:31204 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Hypoglycemia, Cachexia, Uterine neoplasm |
ORPHA:109 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Menometrorrhagia, Weight loss |
ORPHA:79430 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
| Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Nijmegen Breakage Syndrome |
|
Pollakisuria, Abnormality of chromosome stability, Short stature, Cachexia |
ORPHA:647 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Phimosis, Urinary bladder inflammation, Weight loss, Hematuria, Ab... |
ORPHA:99921 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:301074 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Short stature, Hypoalbuminemia, Freckled genitalia |
ORPHA:79076 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Insulin resistance, Weight loss, Shuffling gait, Hypoplastic male external g... |
ORPHA:740 |
| Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Lon... |
ORPHA:744 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Hypercholesterole... |
ORPHA:391665 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Cachexia |
ORPHA:75565 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
| Dermatomyositis |
|
Weight loss |
ORPHA:221 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to th... |
ORPHA:649 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Stickler Syndrome |
|
Short stature, Slender build, Cachexia |
ORPHA:828 |
| Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
| Bjornstad Syndrome |
|
Hypogonadism |
OMIM:262000 |
