Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... |
OMIM:614480 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Decreased activity of mitochondrial complex I, Periportal fibrosis, Hepatocellul... |
OMIM:251880 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino... |
ORPHA:369 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Anemia, Elevated transferrin saturation, Eleva... |
OMIM:613313 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... |
ORPHA:446 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Inc... |
OMIM:300635 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... |
OMIM:278000 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Type II diabetes mellitus, Elevated transferrin satu... |
OMIM:620121 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... |
OMIM:603471 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Elevated transferrin saturation, Azoospermia, Increased circulating ferritin concen... |
OMIM:615234 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, ... |
OMIM:619858 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... |
OMIM:615158 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly... |
OMIM:616860 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Elevated circulating creatinine... |
OMIM:619111 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... |
OMIM:271500 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Howell-Jolly bodies, Portal inflamma... |
OMIM:613759 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Necrotizing enterocolitis, Decreased plasma carniti... |
OMIM:201475 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Au... |
ORPHA:444463 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... |
ORPHA:158061 |
Laurence-Moon Syndrome |
|
Short stature, Type II diabetes mellitus, Hypoplasia of penis, Ataxia, Cryptorchidism, Renal insu... |
ORPHA:2377 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Periportal fibrosis, Decreased circu... |
ORPHA:101330 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Hepatic failure, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Hepatomeg... |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Decreased 3... |
OMIM:231530 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased liver function, In... |
OMIM:617093 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Hypogonadism, Elev... |
ORPHA:79230 |
Aceruloplasminemia |
|
Gait ataxia, Cirrhosis, Hepatic fibrosis, Aceruloplasminemia, Akinesia, Decreased circulating cer... |
ORPHA:48818 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia |
OMIM:234350 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Abnormality of iron ho... |
ORPHA:231222 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... |
OMIM:269600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steat... |
ORPHA:280356 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Azoospermia, Obesity, Insulin resistance, Hepatic steatosis, Oligosper... |
OMIM:615703 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Neutropenia, Skin rash, Jaundice, Increased circulating ferritin concentr... |
OMIM:603552 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... |
OMIM:232700 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis |
OMIM:114550 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... |
ORPHA:26792 |
Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:610717 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
Barth Syndrome |
|
Abnormality of neutrophils, Abnormal mitochondrial morphology |
ORPHA:111 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Decreased acid sphingomyelinase activity, Increased LDL cholester... |
OMIM:607616 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Senior-Loken Syndrome |
|
Short stature, Stage 5 chronic kidney disease, Ataxia, Nephronophthisis, Congenital hepatic fibro... |
ORPHA:3156 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Decreased transferrin saturation, Azoospermia, Elevated hepatic transaminase, Hepat... |
ORPHA:300298 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Gait ataxia, Hepatic fibrosis, Hepatosplenomegaly, Progressive cerebellar ataxia, Acute hepatic f... |
ORPHA:466794 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss, Jaundice, Growth delay, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Glycosuria, Jaundice, Generalize... |
OMIM:231680 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Mildly elevated creatine kinase |
ORPHA:457050 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
Mpi-Cdg |
|
Hepatic fibrosis, Abnormal circulating enzyme concentration or activity, Hyperinsulinemic hypogly... |
ORPHA:79319 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hyperalaninemia, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of ... |
OMIM:618378 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:370 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism, Stage 5 chronic kidney disease, Cho... |
OMIM:616629 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Hepatocellular carcinoma, Hepa... |
OMIM:256810 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Short stature, Impaired glucose tolerance, Glucose intolerance... |
OMIM:615630 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated... |
ORPHA:829 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Ketotic hypoglycemia, Elevated hepatic... |
ORPHA:79240 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating acylcarnitine con... |
ORPHA:26791 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatosplenomegaly |
OMIM:618955 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Abnorma... |
ORPHA:264580 |
Mulibrey Nanism |
|
Short stature, Cachexia, Intrauterine growth retardation, Hepatomegaly |
ORPHA:2576 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cir... |
OMIM:615486 |
Donohue Syndrome |
|
Hepatic fibrosis, Precocious puberty, Hyperinsulinemia, Long penis, Severe failure to thrive, Cho... |
OMIM:246200 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Hepatic steatosis, Renal hypoplasia, Renal insufficien... |
OMIM:615996 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Growth delay, El... |
OMIM:614946 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hepatic steatosi... |
OMIM:617872 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Col... |
ORPHA:2442 |
Benign Cephalic Histiocytosis |
|
Skin rash, Histiocytosis, Inflammatory abnormality of the skin |
ORPHA:157997 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Proximal tubulopathy, Hyperinsulinemic hypoglycemia... |
OMIM:602579 |
Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Hypokalemia, Elevate... |
ORPHA:88673 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Elevated hepatic transaminase, Hepa... |
ORPHA:247585 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
Congenital Enterovirus Infection |
|
Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin... |
ORPHA:292 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, 3-... |
OMIM:610198 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... |
OMIM:611182 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Multicystic kidney dysplasia, Hypogonadism, Short stature, Nephrotic syndrome, ... |
ORPHA:110 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hypersplenism, Jaundice, Enlarged kidney, Elevated hepatic transaminase, Hepatocellula... |
OMIM:619902 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated alkaline phosphatase of bone origin, Hypercholesterolemia, Cirrhosis, Hepatic failure, D... |
OMIM:616828 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Neutropenia, ... |
ORPHA:158057 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... |
ORPHA:905 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the peritoneum, Weight loss |
ORPHA:2023 |
Carcinoid Syndrome |
|
Hepatic necrosis, Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration |
ORPHA:100093 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Mi... |
OMIM:606003 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... |
ORPHA:848 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Eczema, Elevated circulat... |
OMIM:615895 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... |
OMIM:619484 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Gait disturbance, Elevated creatine kinase after exercise, Diffic... |
ORPHA:352470 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Weight loss, ... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... |
OMIM:301045 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myositis, Glomer... |
ORPHA:36234 |
Dpm1-Cdg |
|
Hepatic fibrosis, External genital hypoplasia, Elevated hepatic transaminase, Ataxia, Hepatosplen... |
ORPHA:79322 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Decreased activity of mitochondrial complex I, Macrovesicular hepatic steatosi... |
OMIM:618234 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Thrombocytopenia,... |
OMIM:308240 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
Hodgkin Lymphoma |
|
Weight loss, Ataxia, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Cachexia, Elevated hepatic transaminase, Dicarboxylic aci... |
ORPHA:42 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Broad-based gait, Hepatic steatosis,... |
OMIM:618805 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology |
OMIM:300438 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Ataxia, Hepatic steatosis, Failure to thrive, Decreased activity of mitochondr... |
ORPHA:70472 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Elevated hepatic transaminase, Panc... |
ORPHA:507 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati... |
ORPHA:79095 |
Primary Sclerosing Cholangitis |
|
Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated hepatic transaminas... |
ORPHA:171 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous absce... |
ORPHA:47 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Decreased circu... |
OMIM:619481 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Glycosuria, Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatom... |
OMIM:613404 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positive T cells, Lymphopenia, H... |
ORPHA:169160 |
Caroli Syndrome |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormality of the ductus choled... |
ORPHA:480520 |
Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Hepatitis, Elevated hepatic transaminase, Lymphopenia, Elev... |
ORPHA:454836 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran... |
ORPHA:65682 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Homocitrullinuria, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Acu... |
OMIM:238970 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase... |
OMIM:300972 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Dif... |
ORPHA:2137 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease... |
OMIM:216360 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepa... |
OMIM:612526 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Arthritis, Skin rash, Sinusitis, Recurr... |
ORPHA:33110 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Immunodeficiency 91 And Hyperinflammation |
|
Maculopapular exanthema, Neutrophilia, Elevated hepatic transaminase, Membranoproliferative glome... |
OMIM:619644 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... |
ORPHA:381 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Type I diabetes mellitus,... |
OMIM:304790 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism, Insulin-resistant diabetes m... |
ORPHA:436182 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Small for gestational age... |
ORPHA:30391 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile du... |
OMIM:607361 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Chronic active hepatitis |
OMIM:614379 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Jaundice, Reduced he... |
ORPHA:231226 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Renal insufficiency, Weight loss, Stage 5 chronic kidney disease, Elevated hepa... |
OMIM:619487 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Short stature, Shawl scrotum, Ataxia, Hepatic steatosis, Failure to thrive, Del... |
OMIM:616263 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Increased circulating ferritin concentration, He... |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... |
ORPHA:186 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Hepatic fibrosis, Episodic ammonia intoxication, Elevated circulating aspartate am... |
OMIM:207900 |
Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... |
ORPHA:39812 |
Mu-Heavy Chain Disease |
|
Weight loss, Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly |
ORPHA:100024 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Aminoaciduria, Jaundice, Elevated hepatic transaminase, Elevated ga... |
OMIM:208085 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Elevated hepatic transaminase, Ecze... |
ORPHA:37042 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, T lymphocytopenia, Skin rash, Sclerosing cholangitis, Neutropenia in presence of anti-n... |
ORPHA:572 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Arthritis, Elevated transferrin saturation, Elevated hepatic transaminase, Lym... |
OMIM:604250 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Type I diabetes me... |
OMIM:618549 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic ... |
OMIM:619991 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Interstitial pneumonitis, Lymphopenia, Thrombocy... |
OMIM:127550 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease, Hepatic fibrosis |
OMIM:612285 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Elevated circulating alkaline pho... |
OMIM:214900 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Hepatomegaly |
ORPHA:2198 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis, Splenomegaly |
OMIM:616589 |
Preeclampsia |
|
Elevated hepatic transaminase, Type I diabetes mellitus, Abnormality of the hepatic vasculature, ... |
ORPHA:275555 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... |
OMIM:614582 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Myocarditis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumo... |
ORPHA:139402 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia, Prolonged ne... |
ORPHA:199296 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Neonatal hypoglycemia... |
ORPHA:168558 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Ele... |
ORPHA:562639 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Histiocytosis, Pneumonia, Thrombocytosis, Leukocytosis, Salmonella os... |
OMIM:209950 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Vesicoureteral reflux, Cirrhosis, Microvesicular hepatic steatosis, Large for gestational age, He... |
OMIM:300868 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Neonatal hypoglycemia... |
ORPHA:289548 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Jaundice, Anisopoiki... |
ORPHA:231214 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Ma... |
ORPHA:84081 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... |
OMIM:263200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal insufficiency, ... |
OMIM:208540 |
Rotor Syndrome |
|
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice, Hyperbilir... |
ORPHA:3111 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial c... |
OMIM:618835 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Chronic oral candidiasis, Hemolytic anemia, Hepatitis, Scler... |
OMIM:308230 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial c... |
OMIM:618839 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Anemia, Erythroderma, Neutropenia, Cholestatic liver disease, Skin rash, Ja... |
ORPHA:540 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Proteinuria, Insulin resistance, Microscopic hematuria |
ORPHA:79087 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hypercholesterolemia, Cirrhosis, Increased C-peptide level, Hyperi... |
ORPHA:528 |
Congenital Myopathy 11 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Abnormal activ... |
OMIM:619967 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Ataxia, Decreased activity of mitochondrial complex IV, Slender build, Dec... |
OMIM:613662 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antib... |
ORPHA:228426 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive, Decre... |
OMIM:612075 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Ataxia, Bile duct proliferation, Nephronophthisis |
OMIM:610688 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Bronchiectasis, Elevated hepatic transaminase, Hepa... |
OMIM:613490 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... |
OMIM:255120 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... |
OMIM:615415 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Periportal fibrosi... |
OMIM:124000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Lacticaciduria, Decreased activity of mitochondrial complex IV, Increased mitoch... |
OMIM:619063 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Abnormality of the pancreas, Sh... |
OMIM:222470 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Diabetes mell... |
OMIM:610199 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... |
ORPHA:90003 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Fai... |
ORPHA:300536 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transamin... |
ORPHA:91547 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevat... |
ORPHA:228305 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, Hepatomegaly, Eosinophilia, Impai... |
OMIM:226990 |
Wilson Disease |
|
Aminoaciduria, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepat... |
OMIM:277900 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Proximal tubulopathy, Nephrotic syndrome, Elevated hepatic transaminase, Ataxia... |
OMIM:212065 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... |
OMIM:228300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperuricemia, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin... |
OMIM:604367 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Short stature, Megacystis |
ORPHA:977 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Decreased serum iron, Colitis, Hepatomegaly, Chronic hepatitis |
OMIM:614602 |
Isolated Sedoheptulokinase Deficiency |
|
Anemia, Hepatitis, Hypochromic microcytic anemia, Postprandial hyperglycemia, Cholestasis, Choles... |
ORPHA:440713 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Unconjugated hyperbi... |
OMIM:618278 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to th... |
OMIM:614857 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Anemia... |
ORPHA:275761 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Gait imbalance, Hypogonadism, Decreased testicular size, Abnormality of the ova... |
OMIM:209900 |
Mast Cell Sarcoma |
|
Weight loss, Splenomegaly, Hepatomegaly |
ORPHA:66661 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Abnormality of ... |
ORPHA:298 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Weight loss, Hyperglycemia, Elevated transferrin satu... |
ORPHA:465508 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... |
OMIM:607665 |
Aspergillosis |
|
Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Sinusitis, Eosinophilia, Keratitis, Infect... |
ORPHA:1163 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Viral hepatitis, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Maculopapular exanthema, Elevated total serum tryptase, Histiocytosis, Leukemia |
ORPHA:157991 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
Pfapa Syndrome |
|
Weight loss, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Decreased activity of mitochondrial ... |
OMIM:614924 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Ataxia, Hepatic steatosis, Hepatome... |
ORPHA:363400 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
Acute Liver Failure |
|
Hepatocellular necrosis, Skin rash, Hepatic necrosis, Jaundice, Elevated hepatic transaminase, He... |
ORPHA:90062 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Hepatic fibrosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia |
OMIM:613989 |
Legionnaires Disease |
|
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Lymphopenia, Pericarditis, Hyponatremia, Infecti... |
ORPHA:549 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Renal cyst, Bile duct proliferation, Horseshoe kidney, Hepa... |
OMIM:612284 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... |
OMIM:143880 |
Abetalipoproteinemia |
|
Gait ataxia, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbilirubin... |
ORPHA:14 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Failure to thrive, Hypoglycemia, E... |
OMIM:210200 |
Pleural Mesothelioma |
|
Weight loss, Hepatomegaly |
ORPHA:50251 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Skin rash, Jaundice, Elevated hepatic transaminase... |
OMIM:603553 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Type I diabetes melli... |
OMIM:301078 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Immunodeficiency 56 |
|
Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi... |
OMIM:615207 |
Niemann-Pick Disease, Type A |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Elevated cir... |
OMIM:257200 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Weight loss, Jau... |
ORPHA:400 |
Huntington Disease-Like 1 |
|
Gait ataxia, Abnormal posturing, Weight loss, Gait disturbance, Dysmetria, Bradykinesia |
ORPHA:157941 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Prostate cancer, Weight loss, Urinary retention, Neoplasm of the liver, Vaginal neoplasm, Abnorma... |
ORPHA:2126 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Elevated hepatic transaminase, Sple... |
ORPHA:75563 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephron... |
OMIM:604387 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Nonketotic hypoglyc... |
ORPHA:99901 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Decreased activity of mitochondrial co... |
OMIM:615578 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Abnormality of the pancreas, Brain abscess, Liver abscess, Neutrophilia, Elevated hepatic... |
ORPHA:54251 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Splenomegaly |
OMIM:261750 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Elevated hepatic tran... |
OMIM:300752 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... |
OMIM:261680 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ele... |
ORPHA:158048 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Anemia, Arthritis, Elevated hepatic transaminase, Abnormal cir... |
ORPHA:333 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Type II diabetes mellitus, Chronic mucocuta... |
OMIM:269200 |
Desmoplastic Small Round Cell Tumor |
|
Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Hepatomegaly, Tes... |
ORPHA:83469 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Type I diabetes mellitus, Hashimoto th... |
ORPHA:199299 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... |
ORPHA:2088 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Short stature, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Renal hypo... |
OMIM:614091 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Adrenocorticotropic hormone excess, Weight loss |
ORPHA:100083 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
Lymphoproliferative Syndrome 2 |
|
Uveitis, Hepatosplenomegaly, Pancytopenia, Recurrent pneumonia, Hemophagocytosis, Hepatomegaly, A... |
OMIM:615122 |
Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia, Splenomegaly, Hepatomegaly |
ORPHA:391 |
Juvenile Huntington Disease |
|
Gait ataxia, Weight loss, Ataxia, Progressive cerebellar ataxia, Broad-based gait, Bradykinesia |
ORPHA:248111 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Melioidosis |
|
Septic arthritis, Brain abscess, Prostatitis, Hepatitis, Liver abscess, Osteoarthritis, Cutaneous... |
ORPHA:31202 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Deficiency or absence of cytochrome b(-245), ... |
OMIM:233690 |
Q Fever |
|
Endocarditis, Myocarditis, Maculopapular exanthema, Abnormality of the liver, Osteomyelitis, Anem... |
ORPHA:781 |
Follicular Lymphoma |
|
Splenomegaly, Abnormality of the peritoneum, Weight loss |
ORPHA:545 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Cirrhosis, Abnormality of the liver, Hypoplasia of the thymus, Short stature, A... |
ORPHA:84064 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Hepatomegaly, S... |
ORPHA:91138 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Hypersplenism, Type I diabetes mellitus, Pancytopenia, Hashimoto thyroiditis, Hepatome... |
OMIM:613385 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia, Neutropenia, Abnormal mitoch... |
OMIM:302060 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly |
ORPHA:35 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Growth ... |
OMIM:613550 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, 4-hyd... |
OMIM:617156 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Hematuria, Hypercalcemia, Weight loss |
ORPHA:69077 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Inc... |
ORPHA:210136 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Hepatomegal... |
OMIM:614470 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Blepharitis |
ORPHA:158029 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Propionic Acidemia |
|
Anemia, Hyperglycinemia, Eczema, Pancytopenia, Hypoglycemia, Hyperammonemia, Propionyl-CoA carbox... |
OMIM:606054 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperinsulinemia, Hyperuricemia, Chronic active hepatitis, Elevated... |
OMIM:203800 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steato... |
OMIM:619013 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... |
ORPHA:731 |
Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... |
ORPHA:131 |
Joubert Syndrome With Hepatic Defect |
|
Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Renal insufficiency, Neopl... |
ORPHA:1454 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating ep... |
ORPHA:227990 |
Central Diabetes Insipidus |
|
Weight loss, Nocturia, Failure to thrive, Hyponatremia, Lethargy |
ORPHA:178029 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Tip-toe gait, Inability to walk, Weight loss, Gait disturbance |
ORPHA:216866 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex III, Failure to thr... |
OMIM:616672 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
3-Methylglutaconic aciduria, Abnormal mitochondrial shape, Methylmalonic acidemia, Choreoathetosi... |
ORPHA:17 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Hepatomegaly |
ORPHA:99978 |
Arima Syndrome |
|
Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kid... |
OMIM:243910 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Lymphopenia, Acute pancreatitis, Thrombocytopenia, Maculopapular exanthema |
ORPHA:319218 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating ep... |
ORPHA:227982 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
Myasthenia Gravis |
|
Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, P... |
ORPHA:589 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Hepatomegaly, Insulin-... |
ORPHA:79085 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Glucose intolerance, Elevated hepatic transaminase, Hepatocellul... |
OMIM:235200 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Growth... |
ORPHA:71 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Short stature, Elevated... |
ORPHA:98907 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Truncal ataxia, Elevated hepatic transaminase... |
ORPHA:369840 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Hepatic steatosis, Renal cyst, Renal hypoplasia, Hepatomegaly, Decreased ... |
OMIM:614922 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Short stature, Jaundice, Nephritis, Renal cyst, Polycystic li... |
OMIM:208500 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Insulin resi... |
ORPHA:91 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating ferritin concentration, Cholestasis, Increased serum pyruvat... |
OMIM:603358 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Cirrhosis, Renal cyst, Hepatomegaly, Hyperoxaluria |
OMIM:601539 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Enterocolitis, Interface hepatitis, Lymphopenia, Impaired lymphocyte tr... |
OMIM:243150 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Erythrokeratodermia Variabilis |
|
Weight loss, Diabetes mellitus, Short stature, Abnormal testis morphology |
ORPHA:317 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis, Gait disturbance, Ataxia... |
ORPHA:436271 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis |
ORPHA:2031 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,... |
ORPHA:79083 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Hepatic fibrosis, Thrombocytopenia, Pancytopenia |
OMIM:224230 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Medullary Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenc... |
ORPHA:1332 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hypoglycemia, ... |
OMIM:608836 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased testicular size, Azoospermia, Male hypogo... |
ORPHA:52901 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Allergic rhinitis, Liver abscess, Skin rash, Arthritis, Rheumatoid arthritis, Chr... |
ORPHA:183675 |
Pseudomyxoma Peritonei |
|
Abnormality of the peritoneum, Weight loss |
ORPHA:26790 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Neonatal hypoglycemia, Elevated circulating... |
OMIM:212138 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Primary testicular failure, Abnormal testis morphology, Hypogonadis... |
ORPHA:85450 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, T lymphocytopenia, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis... |
ORPHA:391487 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit... |
ORPHA:470 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Lymphopenia, E... |
OMIM:620005 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Growth delay, Weight loss |
ORPHA:30925 |
Aredyld Syndrome |
|
Short stature, Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Abnormality of the ... |
ORPHA:1133 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen... |
OMIM:620138 |
Adams-Oliver Syndrome |
|
Leukopenia, Cirrhosis, Thrombocytopenia, Portal hypertension, Congenital hepatic fibrosis |
ORPHA:974 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Weight loss, Failure to thrive, Severe short-limb dwarfism, Hepatomegaly |
ORPHA:1842 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Panniculiti... |
OMIM:618398 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Rhizomelia, Short stature, Stage 5 chronic kidney disease, Ac... |
OMIM:266920 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Abnormal circ... |
ORPHA:2298 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Proportionate short s... |
ORPHA:171876 |
Mednik Syndrome |
|
Increased circulating very long-chain fatty acid concentration, Hepatic fibrosis, Cholestasis, Ci... |
OMIM:609313 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Abnormal labia majora morphology, Elevated circulating creatine kinase concen... |
ORPHA:435660 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Abnormality of the liver, Neutropenia, Lymphocytosi... |
ORPHA:1667 |
Nephroblastoma |
|
Neoplasm of the liver, Hematuria, Weight loss |
ORPHA:654 |
Thymic Aplasia |
|
Hypocalcemic tetany, Chronic oral candidiasis, T lymphocytopenia, Coombs-positive hemolytic anemi... |
ORPHA:83471 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
ORPHA:79302 |
Huntington Disease-Like 2 |
|
Bradykinesia, Weight loss |
OMIM:606438 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, T... |
OMIM:611126 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Ataxia, Hepatomegaly |
OMIM:275630 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex III, Hypoglycemia, Hyperammonemia, Pancreatitis |
OMIM:620137 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Glycosuria, Elevated hepatic transaminase, Increased blood urea nit... |
OMIM:614817 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Elevated circulating creatine kinase concentration |
ORPHA:352447 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Hyperuricemia, Glycosuria, Jaundice, Hy... |
OMIM:229600 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Failure to thrive, Loss of amb... |
OMIM:619518 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Recurrent bacterial skin infections, Deficiency or absence of cytochrome b(-245), ... |
OMIM:306400 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Elevated circulating ... |
OMIM:616026 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration |
ORPHA:353 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer... |
OMIM:615238 |
Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Macroorchidism, Increased circulating prolactin concentration, Precociou... |
ORPHA:562 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Short stature, Elevated circulating creatine kinase concen... |
ORPHA:52430 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Tip-toe gait, Diffuse hepatic steatosis, Chronic hepatic failure, Hypop... |
ORPHA:746 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short stature, Small for gestational age, Neoplasm of the pancreas, Elevated hepatic transaminase... |
ORPHA:2959 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Increased serum bile acid conc... |
OMIM:147480 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes m... |
ORPHA:435651 |
Moynahan Syndrome |
|
Short stature, Cachexia, Hypogonadism |
ORPHA:2574 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Neonatal Lupus Erythematosus |
|
Malar rash, Hepatic failure, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Ski... |
ORPHA:398124 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hepatic failure, Hyperalaninemia, Elevated hepatic transaminase, Elevated circulating tetradecano... |
OMIM:619355 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling, Arthritis, Mildly elevated creatine kinase |
ORPHA:397744 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Abnormal circulatin... |
ORPHA:79237 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:159 |
Niemann-Pick Disease, Type C1 |
|
Low cholesterol esterification rate, Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly... |
OMIM:257220 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hypoglycemia, ... |
OMIM:251000 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Urinary incontinence, Cachexia, Ataxia, Dysmetria |
OMIM:618093 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi... |
ORPHA:2552 |
Reticular Dysgenesis |
|
Abnormality of mitochondrial metabolism, Failure to thrive, Weight loss |
ORPHA:33355 |
Methylmalonic Aciduria, Cblb Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Decreased methylmalonyl-CoA mutase activity, ... |
OMIM:251110 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acy... |
ORPHA:228308 |
Wolman Disease |
|
Hepatic failure, Cachexia, Growth delay, Hepatomegaly, Splenomegaly |
ORPHA:75233 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Methioninuria, Hyperhomocystinemia, Hepatic steatosis, Failure to thrive, Hom... |
OMIM:236200 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic fibrosis, Abnormality of the liver, Polycystic kidney dysplasia... |
ORPHA:1505 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Granuloma, Pancytopenia, Autoimmu... |
ORPHA:1855 |
Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, Hepatic fibrosis, 3-Methylglutaconic aciduria, Decreased ... |
OMIM:615273 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Neutrophilia, Cholangitis, Pustule, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepat... |
ORPHA:2348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal Fanconi syndrome, Glycosuria, Truncal ataxia, Hyperphosphaturia, Increased i... |
OMIM:220110 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... |
ORPHA:90970 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Hyperammonemia, Hepatomegaly, Hyperorn... |
ORPHA:415 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... |
OMIM:233710 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Atrophic gastritis, Anemia, Hemolytic anemia, Hepatitis, Skin rash, Arthritis,... |
OMIM:615846 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, F... |
ORPHA:444490 |
Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Septic arthritis, Anemia, T lymphocytopenia, Bronchiectasis, Prostatitis, B lymph... |
OMIM:300755 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Neoplasm of... |
ORPHA:1333 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Jaundice, Abnormality of the mitochondrion, Elevated cir... |
OMIM:214110 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Abnormal neutrophil count, Hepatomegaly, Myeloproliferative disorder, Leukocytosis,... |
ORPHA:3226 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hyperuricemia, Decreased plasma carnitine, Hypoglycemia, Hyperammonemia, Hepatomegaly |
OMIM:246450 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Inflammatory abnormality of the skin, Arthritis, Pancreatitis, Elevated hepatic transamin... |
ORPHA:3260 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resistance, Hepati... |
ORPHA:79086 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hepatic steatosis, Hypospadias, Hyperlipidemia, Cryptorchidism, Obesity, Intr... |
ORPHA:254346 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Rec... |
OMIM:307200 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Leukopenia, Anemia, Periodontitis, Jaundice, Giant neutrophi... |
OMIM:214500 |
Dilated Cardiomyopathy With Ataxia |
|
3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Bilateral cryptorchidism, Elevated... |
ORPHA:66634 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Aplasia of the uterus, Hepatic fibrosis, Ambiguous genitalia |
OMIM:619879 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Diabetes mellitus, Increased mitochondrial nu... |
ORPHA:263297 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Type II diabetes mellitus, Pituitary adenoma, Elevated hepatic transaminase, Adrenal hyperplasia,... |
ORPHA:189439 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Hypernatremia, ... |
OMIM:619381 |
Methylmalonic Aciduria, Cbla Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Decreased methylmalonyl-CoA mutase activity, ... |
OMIM:251100 |
Huntington Disease |
|
Gait imbalance, Weight loss, Inability to walk, Abnormal circulating cholesterol concentration, G... |
ORPHA:399 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Iridocyclitis, Chro... |
OMIM:240300 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hyponatremia, Decreased liver function, Thromb... |
ORPHA:167 |
Rift Valley Fever |
|
Anemia, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Uveitis, Thrombocytopenia,... |
ORPHA:319251 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
Sialuria |
|
Elevated hepatic transaminase, Abnormality of the mitochondrion, Hepatosplenomegaly, Hepatomegaly... |
ORPHA:3166 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Inability to walk, Ectopic kidney, Testicular atrophy, Hypospadias, Abnormality of... |
ORPHA:3063 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Difficulty walking, Weight loss |
ORPHA:98897 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Weight loss, Testicular adrenal rest tumor, Ketotic hy... |
ORPHA:361 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Choreoathetosis, Elevated hepatic transaminase, Neonatal hypoglycemi... |
ORPHA:445038 |
Zygomycosis |
|
Endocarditis, Brain abscess, Enterocolitis, Neutropenia, Hepatitis, Fasciitis, Peritonitis, Nephr... |
ORPHA:73263 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cachexia, Azoospermia, Limb ataxia, Hepatosplenomegaly, Broad-based gait, Delay... |
ORPHA:2072 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, H... |
OMIM:618329 |
Majeed Syndrome |
|
Weight loss, Cachexia, Failure to thrive, Hepatomegaly, Proteinuria, Splenomegaly, Microscopic he... |
ORPHA:77297 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Lacticaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegal... |
ORPHA:699 |
Joubert Syndrome 1 |
|
Renal cyst, Nephropathy, Hepatic fibrosis, Ataxia |
OMIM:213300 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia, Elevated hepatic transaminase |
OMIM:618752 |
Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL cho... |
ORPHA:412 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic failure |
OMIM:616483 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Conjugated hyperbilirubinemi... |
OMIM:619534 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Very long chain fatty a... |
ORPHA:98908 |
Wild Type Attr Amyloidosis |
|
Weight loss, Nephrotic syndrome, Nephropathy, Hepatomegaly, Proteinuria, Renal insufficiency |
ORPHA:330001 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Ketonuria, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transa... |
ORPHA:20 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Neurogenic bladder, Decreased activity of mitochondrial complex III, Decreased activity of mitoch... |
OMIM:500013 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Splenomegaly |
ORPHA:584 |
Niemann-Pick Disease, Type C2 |
|
Low cholesterol esterification rate, Sea-blue histiocytosis, Jaundice, Bone-marrow foam cells, He... |
OMIM:607625 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Anemia, Elevated hepatic transaminase, Hepatocell... |
OMIM:276700 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Splenomegaly, Intraalveolar phospholipid accumulation, Leukopenia, Anemia, Increas... |
OMIM:222700 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancre... |
ORPHA:93111 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
Refractory Celiac Disease |
|
Elevated alkaline phosphatase of bone origin, Inflammatory abnormality of the skin, Normocytic an... |
ORPHA:398063 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Weight loss, Liver abscess, Abnormal spleen m... |
ORPHA:284 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Hypoglycemia, Hyp... |
OMIM:615453 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Gait disturbance |
ORPHA:157973 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Increased u... |
ORPHA:348 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Ataxia, Organic aciduria, Hyperammonemia, Growth delay, Lethargy |
ORPHA:79242 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... |
OMIM:619281 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, He... |
ORPHA:79259 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Gait ataxia, Ambiguous genitalia, Abnormal mitochondrial shape, Ataxia, Failure to thrive, Clitor... |
ORPHA:543470 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss, Ataxia, Severe short stature, Loss of ambulation, Proportiona... |
ORPHA:3208 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Short stature, Inability to walk, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Elevated... |
OMIM:615356 |
Secondary Short Bowel Syndrome |
|
Weight loss, Abnormal blood ion concentration, Failure to thrive, Growth delay, Cholestasis, Low ... |
ORPHA:95427 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Weight loss, Neoplasm of the liver, Elevated hepatic transaminase, Elevate... |
ORPHA:100085 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Gonadoblastoma, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Gonadoblastoma, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Gonadoblastoma, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:99226 |
Turner Syndrome |
|
Biliary cirrhosis, Gonadoblastoma, Elevated hepatic transaminase, Hepatic steatosis, Increased ci... |
ORPHA:881 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Weight loss, Pituitary adenoma, Calcium nephrolith... |
ORPHA:97289 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Pustule, Elevated circulating C-reactive prot... |
OMIM:612852 |
Cirrhosis, Familial |
|
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le... |
OMIM:215600 |
Mcdonough Syndrome |
|
Cachexia, Short stature, Cryptorchidism |
ORPHA:2471 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria, Mitochondrial swelling, Failure ... |
OMIM:618250 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Elevated circulating creatin... |
OMIM:613327 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia, Severe short stature, Hypospadias, Diabetes mellitus, Growth... |
ORPHA:3242 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Ataxia |
ORPHA:363717 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Pituitary adenoma, Hepatic steatosis, Nephrolithiasis, Hyperlip... |
ORPHA:189427 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Weight loss, Jaundice, Neoplasm of the pancreas, Neoplasm of the scrotum, Ele... |
ORPHA:370348 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Ketonuria, Ataxia, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperg... |
ORPHA:134 |
Silver-Russell Syndrome |
|
Precocious puberty, Short stature, Decreased testicular size, Cachexia, Insulin resistance, Hypos... |
ORPHA:813 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Hepatic failure, Hepatic fibrosis, Rhizomelia, Stage 1 chronic kidn... |
OMIM:218330 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Splenomegaly, Weight loss, Short stature, Unconjugated hyperbilirubine... |
OMIM:613673 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology |
ORPHA:93941 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Sea-blue histiocytosis, Decreased beta-galactosidase activity, Hepatome... |
OMIM:230600 |
D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent... |
OMIM:261515 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Diabetes mellitus, Hepatomegaly, Exocrine pancreatic insuffic... |
ORPHA:456312 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of the mitochondrion |
ORPHA:330050 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Panniculitis, Hepatosplenomegaly |
ORPHA:86884 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hepatic fibrosis, Short stature, Polycystic kidney dysplasia, Hepatic cysts, Ov... |
OMIM:311200 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Ambiguous genitalia, Polycystic kidney dysplasia, Pancreatic fibrosis, Micropenis |
OMIM:263520 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Short stature, Cachexia, Ataxia, Elevated circulating creatine kinase concentratio... |
ORPHA:1933 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Hypercalcemia, Growth delay, Obesity |
ORPHA:96168 |
Kawasaki Disease |
|
Conjunctivitis, Hepatitis, Skin rash, Jaundice, Arthritis, Pericarditis, Cholecystitis, Leukocyto... |
ORPHA:2331 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Biliary tract neoplasm, Biliary tra... |
ORPHA:100086 |
Bloom Syndrome |
|
Small for gestational age, Type II diabetes mellitus, Azoospermia, Hepatic steatosis, Growth dela... |
OMIM:210900 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Decreased proportion of CD3-positiv... |
ORPHA:331206 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin rash, Cheilitis |
ORPHA:1334 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Liver abscess, Elevated hepatic transaminase, Lung abscess, Elevated circulating alkaline... |
ORPHA:67 |
Polymyositis |
|
Weight loss, Gait disturbance, Hepatomegaly, Elevated circulating creatine kinase concentration |
ORPHA:732 |
3-Methylglutaconic Aciduria, Type Viib |
|
3-Methylglutaconic aciduria, Rhizomelia, Choreoathetosis, Ataxia, Neonatal hypoglycemia, Hepatic ... |
OMIM:616271 |
Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
Cronkhite-Canada Syndrome |
|
Cachexia, Splenomegaly, Hepatomegaly |
ORPHA:2930 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Arthritis, Membranoproliferative glomerulonephritis, Nephritis, Peric... |
ORPHA:91139 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Decreased plasma carnitine, Hyperphosphaturia, Hypoph... |
OMIM:219800 |
Leptospirosis |
|
Hyperproteinemia, Hepatitis, Skin rash, Jaundice, Uveitis, Pericarditis, Optic neuritis, Thromboc... |
ORPHA:509 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Skin rash, Arthritis, Elevated hepatic transaminase, Lymphopenia, Myositi... |
OMIM:617591 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, E... |
ORPHA:98849 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Ambiguous genitalia, Urethral atresia, Multicystic kidney dysplasia, ... |
ORPHA:564 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gout, Infla... |
OMIM:232220 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Slender build, Short stature, Small for gestational age, Unconjugated hyperbilirubinem... |
OMIM:613658 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Periportal fibrosis, Cystic renal dysplasia, Hepatomegaly, Intrauterine grow... |
OMIM:269860 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:616433 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Decreased proportion of CD4-positive... |
ORPHA:289390 |
Gm1 Gangliosidosis |
|
Abnormality of the scrotum, Weight loss, Short stature, Gait disturbance, Ataxia, Hepatosplenomeg... |
ORPHA:354 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97278 |
Gaucher Disease |
|
Cirrhosis, Anemia, Osteomyelitis, Hepatitis, Pancytopenia, Elevated circulating C-reactive protei... |
ORPHA:355 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Urinary incontinence, Abnormal posturing, Titubation, Gait disturbance, Bradykinesia |
ORPHA:225147 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Hypogonadism |
ORPHA:97229 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Weight loss, Cachexia, Type I diabetes mellitus, Hyperl... |
ORPHA:1979 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Hepatic steatosis, Acute p... |
OMIM:151660 |
Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... |
ORPHA:35710 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:100080 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Short stature, Elevated hepatic transaminase, Type I diabetes mellitus, Ataxia, Fail... |
OMIM:212750 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis... |
ORPHA:2688 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin level, Arthrit... |
ORPHA:48435 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Elevated hepatic transami... |
ORPHA:811 |
Listeriosis |
|
Septic arthritis, Brain abscess, Pericarditis, Pneumonia, Abscess, Splenic abscess, Endocarditis,... |
ORPHA:533 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia, Goiter |
OMIM:188580 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Decreased thyroid-stimulating hormone level, Hypokalemia, Goiter |
OMIM:613239 |
Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97283 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Oligospermia, Glomeruloneph... |
ORPHA:64 |
Vipoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97282 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hypogonadism, Ataxia, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Optic neuritis, Myelitis, Herpes simplex encephalitis |
ORPHA:83597 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia |
OMIM:266265 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, 3-Methylglutaconic aciduria, Jaundice, Elevate... |
OMIM:203700 |
Aggressive Systemic Mastocytosis |
|
Weight loss, Hypersplenism, Hepatosplenomegaly, Decreased liver function, Portal hypertension |
ORPHA:98850 |
Christianson Syndrome |
|
Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
Familial Mediterranean Fever |
|
Crohn's disease, Arthritis, Neutrophilia, Erysipelas, Pericarditis, Elevated circulating C-reacti... |
OMIM:249100 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Hepatocellular carcinoma, Pitui... |
ORPHA:440437 |
Primary Myelofibrosis |
|
Cachexia, Hepatosplenomegaly, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:824 |
Non-Functioning Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Hypercalcemia, E... |
ORPHA:94080 |
Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Elevated hepatic tra... |
OMIM:608594 |
H Syndrome |
|
Bronchiectasis, Azoospermia, Hepatosplenomegaly, Chronic rhinitis, Diabetes mellitus, Histiocytos... |
ORPHA:168569 |
Al Amyloidosis |
|
Abnormality of the liver, Weight loss, Nephrotic syndrome, Increased circulating NT-proBNP concen... |
ORPHA:85443 |
Shigellosis |
|
Conjunctivitis, Myocarditis, Hepatic failure, Arthritis, Microangiopathic hemolytic anemia, Absce... |
ORPHA:810 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
Felty Syndrome |
|
Weight loss, Splenomegaly, Hepatomegaly |
ORPHA:47612 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, ... |
OMIM:557000 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Decreased thyroid-stimulating hormone level, Goiter |
OMIM:275000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Alg9-Cdg |
|
Periportal fibrosis, Rhizomelia, Bicornuate uterus, Enlarged kidney, Ureteral hypoplasia, Hypopla... |
ORPHA:79328 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Hepatocellular carcinoma, Pitui... |
ORPHA:144 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, Elevated hepatic transaminase |
OMIM:276710 |
Flynn-Aird Syndrome |
|
Type II diabetes mellitus, Cachexia, Ataxia |
ORPHA:2047 |
Relapsing Polychondritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, Inflammatory abno... |
ORPHA:728 |
Bronchial Neuroendocrine Tumor |
|
Weight loss, Hepatic failure, Elevated circulating growth hormone concentration, Hepatomegaly |
ORPHA:97287 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Cholestatic liver disease |
ORPHA:92050 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypocalcemia, Hypoproteinemia, Growth delay, Peritoneal effusion, Hypomagnesemia, Hy... |
ORPHA:90362 |
Polycythemia Vera |
|
Weight loss, Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:729 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Elevated hepatic t... |
ORPHA:319213 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Abnormality of the mitochondrion |
ORPHA:91130 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy, Intrauterine growth retardation, Inability to walk |
OMIM:616801 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Inability to walk, Nephrotic syndrome, Enlarged kidney, Nephritis, Hepatomegaly, Pr... |
OMIM:617303 |
Grfoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97261 |
Lymphoid Interstitial Pneumonia |
|
Weight loss, Failure to thrive, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:100082 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Uterine leiomyoma, Renal insufficiency, Weight loss, Renal hamartoma, ... |
ORPHA:143 |
Systemic Capillary Leak Syndrome |
|
Oliguria, Renal insufficiency, Pancreatitis, Weight loss |
ORPHA:188 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Choreoathetosis, Cachexia, Gait disturbance, Ataxia, Failure to thrive in infancy |
ORPHA:702 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm |
ORPHA:2221 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Skin rash, J... |
ORPHA:99829 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Whipple Disease |
|
Cachexia, Insulin resistance, Ataxia, Hepatomegaly, Hyponatremia, Splenomegaly |
ORPHA:3452 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Decreased testicular size, Azotemia, Hepatic steatosis, Hypoplasia of the ovary, I... |
OMIM:619321 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Decre... |
ORPHA:280365 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Patent ductus arteriosus, Retroperitoneal fibrosis, Azoospermia, Type I di... |
OMIM:602782 |
Perry Syndrome |
|
Bradykinesia, Akinesia, Short stepped shuffling gait, Weight loss |
OMIM:168605 |
Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypoglycemia, Hypophospha... |
ORPHA:3337 |
Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Scleritis, Granulomatosis, Glomerulonephritis, Crescentic glomerulo... |
ORPHA:93126 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Weight loss, Abnormality... |
OMIM:256700 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Gait disturbance, Proteinuria |
ORPHA:2774 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Tip-toe gait, Inability to walk, Cachexia, Ataxia, Difficulty walking, Head... |
ORPHA:300605 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Intrauterine growth retardation |
ORPHA:1438 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Short stature, Ataxia, Abnormal urine alpha-ketoglutarate ... |
ORPHA:31 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cachexia, Supernumerary nipple, Failure to thrive, Hypospadias, Growth delay, Cryp... |
ORPHA:217346 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Hepatic steatosis, Hepatomegaly, Hypocholesterolemia, Se... |
OMIM:270400 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short stature |
ORPHA:1389 |
Dystonia-Aphonia Syndrome |
|
Unsteady gait, Gait disturbance, Abnormal mitochondrial shape, Abnormal urinary odor |
ORPHA:412217 |
Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97280 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentratio... |
ORPHA:36238 |
Visceral Steatosis, Congenital |
|
Jaundice, Hepatic steatosis, Hypoglycemia, Hypocalcemia, Lethargy |
OMIM:228100 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Gout, Hypoglycemia, Hepat... |
OMIM:232200 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Hyperuricemia, Abnormality of alkaline phosphatase level, Impaired glucose... |
OMIM:137920 |
Zollinger-Ellison Syndrome |
|
Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Weight loss, Increased glucagon l... |
ORPHA:913 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit... |
ORPHA:49041 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Mode... |
OMIM:619525 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Decreased LDL choles... |
ORPHA:404454 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Hepatic failure, Abnormality of Krebs cycle metabolism, Hyperalaninemia, Ataxia, Lac... |
ORPHA:255210 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Weight loss, Truncal ataxia, Limb ataxia, Bradykinesia |
OMIM:137440 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary norepinephrine, Weight loss, Elevated urinary epinephrine, Hematuria, Elevated u... |
ORPHA:276621 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Sweet Syndrome |
|
Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Chronic lymphatic leukemia, Acne... |
ORPHA:3243 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Abnormality of the liver, Elevated hepatic transaminase, Abnormality of the mitochondrion, Elevat... |
ORPHA:254892 |
Fatal Familial Insomnia |
|
Urinary retention, Ataxia, Weight loss |
OMIM:600072 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Leukopenia, Hepatic failure, Anemia, Hemolytic anemia, Bronchiectas... |
ORPHA:797 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Short stature, Hypospadias, Growth delay, Cryptorchidism, Obesity, Intrauterine grow... |
ORPHA:251071 |
Adrenocortical Carcinoma |
|
Weight loss, Hypokalemia, Adrenocorticotropic hormone deficiency, Diabetes mellitus, Abnormality ... |
ORPHA:1501 |
Reynolds Syndrome |
|
Biliary cirrhosis, Erythema nodosum, Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic t... |
OMIM:613471 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Goiter |
ORPHA:142 |
Pulmonary Alveolar Microlithiasis |
|
Abnormal circulating calcium concentration, Testicular microlithiasis, Weight loss, Gonadal calci... |
ORPHA:60025 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia, Ataxia, Abnormal circulating creatine concentration, Athetosis |
ORPHA:52503 |
Giant Cell Arteritis |
|
Hepatic failure, Weight loss, Hematuria, Ataxia, Renal insufficiency |
ORPHA:397 |
Xfe Progeroid Syndrome |
|
Cachexia, Elevated hepatic transaminase, Failure to thrive, Severe short stature, Proteinuria, Re... |
OMIM:610965 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, ... |
OMIM:232240 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:100075 |
Immunodeficiency 31C |
|
Weight loss, Short stature, Diabetes mellitus, Delayed puberty, Growth delay, Hepatomegaly, Splen... |
OMIM:614162 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Ambiguous genitalia, female, Long penis, Neonatal hypoglycemia, Hyponatremia... |
ORPHA:90794 |
Castleman Disease |
|
Weight loss, Jaundice, Hematuria, Ureteral obstruction, Elevated circulating C-reactive protein c... |
ORPHA:160 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Sialadenitis, Decreased liver f... |
ORPHA:449395 |
Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Weight loss, Dysuria, Ataxia, Hypogonadotropic hypogonadism, Renal insu... |
ORPHA:35687 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hydronephrosis |
ORPHA:449400 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Inability to walk |
OMIM:128100 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypogonadism, Short stature, Decreased testicular size, Cachexia, Hypoplasia of penis, Obesity, B... |
ORPHA:85293 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Extrahepatic cholestasis, Weight loss, Elevated hepatic transaminase, Hydronephr... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hepatic failure, Extrahepatic cholestasis, Weight loss, Elevated hepatic transaminase, Hydronephr... |
ORPHA:100077 |
1P36 Deletion Syndrome |
|
Abnormality of female external genitalia, Abnormality of the liver, Hypogonadism, Short stature, ... |
ORPHA:1606 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Weight loss |
ORPHA:90060 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia |
ORPHA:2070 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Rett Syndrome |
|
Gait ataxia, Gait apraxia, Short stature, Truncal ataxia, Cachexia |
OMIM:312750 |
Toxic Epidermal Necrolysis |
|
Weight loss, Dysuria, Elevated hepatic transaminase, Renal insufficiency, Acute hepatic failure, ... |
ORPHA:537 |
Short Syndrome |
|
Severe short stature, Insulin resistance, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Vici Syndrome |
|
Abnormal posturing, Penile hypospadias, Elevated circulating creatine kinase concentration, Failu... |
OMIM:242840 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Tetrasomy 12P |
|
Cachexia, Short stature |
ORPHA:884 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating renin level, ... |
ORPHA:95409 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Weight loss, Transient hypophosphatemia, Hyperkalemia, I... |
ORPHA:79102 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Addison Disease |
|
Hyperuricemia, Primary testicular failure, Weight loss, Hyperkalemia, Renal salt wasting, Increas... |
ORPHA:85138 |
Occipital Horn Syndrome |
|
Esophagitis, Jaundice, Cholestasis, Hepatitis |
ORPHA:198 |
Stevens-Johnson Syndrome |
|
Weight loss, Dysuria, Elevated hepatic transaminase, Renal insufficiency, Acute hepatic failure, ... |
ORPHA:36426 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Tip-toe gait, Falls, Bifid scrotum, Jaundice, Hyperbilirubinemia, Elevated... |
OMIM:619475 |
Brucellosis |
|
Abnormality of the liver, Weight loss, Liver abscess, Hypersplenism, Small for gestational age, E... |
ORPHA:1304 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Ketonuria, Small for gestational age, Truncal ataxia, Ataxia, F... |
OMIM:220111 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydronephrosis, Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Dis... |
ORPHA:93271 |
Pmm2-Cdg |
|
Hepatic fibrosis, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pan... |
OMIM:617099 |
Ménétrier Disease |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive, Intrauterine growth retardation, Short stature |
ORPHA:371364 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Multiple Myeloma |
|
Weight loss, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypercalcemia, Elevated circul... |
ORPHA:29073 |
Fanconi Anemia |
|
Abnormality of the liver, Abnormal preputium morphology, Abnormal testis morphology, Hypogonadism... |
ORPHA:84 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Abnormal testis morphology, Short stature,... |
ORPHA:79474 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Pneumocystosis |
|
Chronic oral candidiasis, Interstitial pneumonitis, Abnormal neutrophil count, Increased circulat... |
ORPHA:723 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary norepinephrine, Weight loss, Elevated urinary epinephrine, Hematuria, Elevated u... |
ORPHA:29072 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Weight loss, Spastic/hyperactive bladder, Bradykinesia |
ORPHA:411602 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
Crimean-Congo Hemorrhagic Fever |
|
Hemoperitoneum, Elevated circulating creatine kinase concentration, Parotitis, Hepatomegaly, Thro... |
ORPHA:99827 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, Hepatosplenomegaly, ... |
OMIM:260920 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Stage 5 chronic kidney disease, Vaginal neoplasm, Hematuria, Chronic kidney disease,... |
ORPHA:1018 |
Granulomatosis With Polyangiitis |
|
Prostatitis, Skin rash, Inflammatory abnormality of the eye, Granulomatosis, Pericarditis, Chroni... |
ORPHA:900 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Weight loss, Hematuria, Gait disturbance, Proteinuria, Renal insuff... |
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 |
Cockayne Syndrome |
|
Inability to walk, Cachexia, Elevated hepatic transaminase, Difficulty walking, Hepatomegaly, Spl... |
ORPHA:191 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Oligospermia, Ovarian ser... |
ORPHA:1359 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gait ataxia, Weight loss, Progressive gait ataxia, Ataxia, Mildly elevated creatine kinase, Dysme... |
OMIM:607459 |
Thymoma |
|
Glomerulonephritis, Weight loss, Prostate neoplasm |
ORPHA:99867 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Urinary incontinence, Intrauterine growth retardation |
OMIM:619934 |
Camurati-Engelmann Disease |
|
Hypogonadism, Urinary retention, Cachexia, Ataxia, Delayed puberty, Hepatomegaly, Slender build, ... |
ORPHA:1328 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Renal Nutcracker Syndrome |
|
Weight loss, Vulval varicose vein, Hematuria, Varicocele, Renal artery stenosis, Proteinuria, Mic... |
ORPHA:71273 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Mucolipidosis Type Ii |
|
Short stature, Weight loss, Inability to walk, Hepatosplenomegaly, Splenomegaly, Postnatal growth... |
ORPHA:576 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss, Hepatosplenomegaly |
ORPHA:85408 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Short stature, Glucose intolerance, Elevated hepatic transaminase, Elevated... |
OMIM:619127 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Neutrophilia, Severe periodontitis, Recurrent otitis media, Recurrent pneumonia, Hepatome... |
ORPHA:99843 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Poems Syndrome |
|
Weight loss, Diabetes mellitus, Increased circulating prolactin concentration, Hypogonadism |
ORPHA:2905 |
Granulomatosis With Polyangiitis |
|
Conjunctivitis, Granulomatosis, Uveitis, Sinusitis, Episcleritis, Keratitis, Chronic otitis media |
OMIM:608710 |
Digeorge Syndrome |
|
Hypoplasia of the thymus, Short stature, Hypocalcemia, Hydrocele testis, Unilateral renal agenesi... |
OMIM:188400 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age, Goiter, Thyroid hyperplasia |
ORPHA:424 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Short stature, Decreased testicular size, Enlarged kidney, Jaun... |
OMIM:300855 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Weight loss, Neoplasm o... |
ORPHA:652 |
Kikuchi-Fujimoto Disease |
|
Weight loss, Elevated hepatic transaminase, Ataxia, Elevated circulating C-reactive protein conce... |
ORPHA:50918 |
Riddle Syndrome |
|
Enuresis nocturna, Short stature, Weight loss, Gait disturbance, Ataxia, Elevated circulating alp... |
ORPHA:420741 |
Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Vesicoureteral reflux, Increased circulating prolactin concentration... |
ORPHA:3455 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Decreased response to growth hormone stimulation test, Tip-toe gait, Falls, U... |
OMIM:619503 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Growth delay, Weight loss |
ORPHA:309031 |
Acute Promyelocytic Leukemia |
|
Hematuria, Weight loss |
ORPHA:520 |
Behçet Disease |
|
Splenomegaly, Weight loss, Gait disturbance, Ataxia, Orchitis, Renal insufficiency, Pancreatitis |
ORPHA:117 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Elevated circulating deoxyuridine concentration, Cachexia, Slender build, Elevated c... |
OMIM:603041 |
Pyomyositis |
|
Renal insufficiency, Testicular teratoma, Weight loss |
ORPHA:764 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Short stature |
ORPHA:2058 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Abnormal salivary gland morphology, Hepatomegaly, Enlarged lacrimal glands, Splenome... |
OMIM:181000 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Female hypogonadism, Increased circulating prolactin concentration, Ele... |
ORPHA:91347 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
Rat-Bite Fever |
|
Parotitis, Pancreatitis, Weight loss |
ORPHA:31205 |
Choreoacanthocytosis |
|
Elevated circulating alanine aminotransferase concentration, Falls, Weight loss, Elevated circula... |
ORPHA:2388 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Goiter, Thyroid hyperplasia |
ORPHA:99819 |
Trisomy 18 |
|
Hydronephrosis, Short stature, Cachexia, Growth delay, Cryptorchidism, Intrauterine growth retard... |
ORPHA:3380 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Retroperitoneal fibrosis, Weight loss, Nodular goiter, Abnormality ... |
ORPHA:79078 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating C-reactive protein concentration, Weight loss, Elevated circulat... |
ORPHA:93672 |
Schwartz-Jampel Syndrome |
|
Decreased body weight, Short stature, Testicular torsion, Decreased testicular size, Cachexia, Ga... |
ORPHA:800 |
African Trypanosomiasis |
|
Urinary incontinence, Weight loss, Akinesia, Jaundice, Choreoathetosis, Gait disturbance, Hepatos... |
ORPHA:3385 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Hypoglycemia, Cachexia, Short stature |
ORPHA:109 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Difficulty walking, Weight loss, Elevated circulating creatine kinase concentration |
OMIM:164310 |
Nocardiosis |
|
Liver abscess, Peritonitis, Weight loss |
ORPHA:31204 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Short stature |
ORPHA:220295 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Seckel Syndrome |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:808 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Weight loss |
ORPHA:79430 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Chronic Graft Versus Host Disease |
|
Weight loss, Phimosis, Elevated hepatic transaminase, Hematuria, Urinary bladder inflammation, Ab... |
ORPHA:99921 |
Juvenile Polyposis Of Infancy |
|
Freckled genitalia, Cachexia, Short stature, Hypoalbuminemia |
ORPHA:79076 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pituitary corticotropic cell adenoma, Prostate cancer, Weight loss, Im... |
ORPHA:99889 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Elevated circulating C-reactive protein concentration, Anoperineal fistula |
OMIM:301074 |
Homozygous Familial Hypercholesterolemia |
|
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia,... |
ORPHA:391665 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Short stature |
ORPHA:1969 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Shuffling gait, Weight loss, Insulin resistance, Severe failure to thrive, H... |
ORPHA:740 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Proteus Syndrome |
|
Macroorchidism, Enlarged polycystic ovaries, Cachexia, Long penis, Renal cyst, Testicular neoplas... |
ORPHA:744 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Weight loss, Beta 2-microglobulinuria, Renal tubular... |
ORPHA:91500 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Nijmegen Breakage Syndrome |
|
Cachexia, Pollakisuria, Short stature |
ORPHA:647 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Splenomegaly, Hepatomegaly, Hypoalbuminemia |
ORPHA:75565 |
Goodpasture Syndrome |
|
Weight loss, Glomerulonephritis, Erythrocyte cylindruria, Cylindruria, Increased blood urea nitro... |
OMIM:233450 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Norrie Disease |
|
Cachexia, Uterine rupture, Failure to thrive, Delayed puberty, Diabetes mellitus, Cryptorchidism |
ORPHA:649 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Stickler Syndrome |
|
Slender build, Cachexia, Short stature |
ORPHA:828 |
Björnstad Syndrome |
|
Hypogonadism |
ORPHA:123 |
Bjornstad Syndrome |
|
Hypogonadism |
OMIM:262000 |