Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:615395 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Hepatitis Delta |
|
Hepatic failure, Abnormal bleeding, Hepatitis, Bruising susceptibility, Elevated circulating aspa... |
ORPHA:402823 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:618400 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Cirrh... |
OMIM:231100 |
Patent Ductus Venosus |
|
Persistent patent ductus venosus, Congenital portosystemic venous shunt, Hepatic steatosis, Decre... |
OMIM:601466 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... |
OMIM:616829 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta... |
ORPHA:139507 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Diarrhea 13 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:620357 |
Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618881 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,... |
OMIM:231530 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Copper accumulation in liver |
ORPHA:209919 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... |
OMIM:613812 |
Carcinoid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... |
ORPHA:100093 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... |
OMIM:300635 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Neurofibroma |
ORPHA:2430 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... |
ORPHA:60 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Gingival bleeding, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hash... |
OMIM:618549 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
OMIM:232700 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut... |
ORPHA:905 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Hepatic ... |
OMIM:619048 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema... |
ORPHA:2137 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content |
ORPHA:293964 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Hypertension, Hepatic steatosis, Congestive heart failure |
OMIM:615703 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Osteoarthritis, Hepatomegaly |
OMIM:606069 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hypertension, Hepatic steatosis |
ORPHA:79084 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... |
OMIM:615207 |
Immunodeficiency 54 |
|
Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder, Splenomegaly |
OMIM:609981 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... |
OMIM:264470 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Abnormal liver pa... |
ORPHA:1332 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar... |
OMIM:614582 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... |
OMIM:615438 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
Gracile Syndrome |
|
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration |
ORPHA:53693 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Petechiae... |
ORPHA:294 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:618528 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hypertension, Hepatic steatosis |
ORPHA:280356 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Elevated gamma... |
OMIM:278000 |
N Syndrome |
|
Leukemia, Abnormality of chromosome stability, Neoplasm |
OMIM:310465 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Membranoproliferative glomerulonephritis |
OMIM:608709 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... |
OMIM:201475 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
ORPHA:369840 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Cardiomyopathy |
ORPHA:26792 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega... |
OMIM:618234 |
Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Petechiae, Splenomegaly, Kerat... |
ORPHA:91138 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... |
OMIM:619386 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly |
ORPHA:848 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Ataxia-Telangiectasia |
|
Elevated circulating hepatic transaminase concentration, Abnormality of chromosome stability, Neo... |
ORPHA:100 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa... |
ORPHA:71212 |
Autosomal Agammaglobulinemia |
|
Verrucae, Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivit... |
ORPHA:33110 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Abnormality of chromosome stability, Myelodysplasia |
OMIM:614082 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:369 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... |
OMIM:614921 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Hurthle cell thyroi... |
ORPHA:210548 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... |
OMIM:261680 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia |
OMIM:615272 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hypotension, Hepatitis |
ORPHA:199296 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hepatic steatosis |
OMIM:613877 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phosphorylase kin... |
OMIM:261750 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Lichen Planopilaris |
|
Hepatitis, Neoplasm of the oral cavity |
ORPHA:525 |
Leigh Syndrome, Nuclear |
|
Hepatocellular necrosis |
OMIM:256000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Reduced... |
OMIM:201450 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... |
OMIM:616433 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... |
ORPHA:169160 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... |
OMIM:619481 |
Melioidosis |
|
Pneumonia, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Shock, Abnormality of the spleen, Pa... |
ORPHA:31202 |
Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... |
ORPHA:158061 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he... |
OMIM:212138 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:615595 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular... |
OMIM:256810 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... |
OMIM:610198 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar... |
OMIM:212140 |
Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
ORPHA:300536 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... |
OMIM:269200 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal circula... |
ORPHA:70472 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic... |
ORPHA:228305 |
Liver Failure, Infantile, Transient |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... |
OMIM:613070 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertension, Hepatic steatosis |
OMIM:615238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Decreased liver function |
OMIM:238970 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:619013 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Osteomyelitis, Neoplasm, Skin rash, Recurrent cutaneous abscess f... |
ORPHA:47 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:605911 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hepatic steatosis |
OMIM:615996 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Malar rash, Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Cholestasis, Hepatic steatosis, Elevated circulating alanine aminotransferase co... |
OMIM:614300 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C... |
OMIM:209920 |
Systemic Primary Carnitine Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:158 |
Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ... |
OMIM:215600 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Lig4 Syndrome |
|
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Telangiectasia of the skin, Hepato... |
ORPHA:99812 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... |
ORPHA:42 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l... |
OMIM:617093 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Hypertension, Hepatic steatosis |
ORPHA:363400 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Telangiectasia of the... |
OMIM:615381 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated cir... |
OMIM:605814 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep... |
OMIM:308230 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:26791 |
Graft Versus Host Disease |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... |
ORPHA:39812 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Budd-Chiari syndrome, Squamous cell carcinoma of the skin, Hepatic necrosis, Interstitial pneumon... |
OMIM:127550 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis |
OMIM:231680 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Hepatic steatosis |
OMIM:615980 |
Griscelli Syndrome |
|
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly |
ORPHA:381 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... |
OMIM:620010 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... |
OMIM:611126 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Hematological neoplasm, ... |
ORPHA:1163 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:237800 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:99901 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate... |
OMIM:615486 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... |
ORPHA:228426 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Chromosome breakage, Abnormality of chro... |
OMIM:210900 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
Congenital Enterovirus Infection |
|
Hypotension, Hepatic failure, Abnormal bleeding, Hepatitis, Cardiomyopathy, Cholestasis, Skin ras... |
ORPHA:292 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma |
OMIM:615878 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropath... |
OMIM:618999 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Melena, Maculopapular exanthema, Acute... |
ORPHA:319218 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease |
ORPHA:440713 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Q Fever |
|
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteom... |
ORPHA:781 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... |
ORPHA:186 |
Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased hepatocellu... |
ORPHA:71 |
Legionnaires Disease |
|
Hypotension, Hepatitis, Splenomegaly, Infectious encephalitis, Arrhythmia, Pancreatitis, Myocardi... |
ORPHA:549 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... |
ORPHA:90062 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hypertension, Hepatic steatosis |
OMIM:604367 |
Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... |
ORPHA:829 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:435651 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
Avian Influenza |
|
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... |
ORPHA:454836 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... |
ORPHA:264580 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis |
OMIM:304790 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice |
OMIM:614876 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Lymphoma, Cardiomyopathy, Abnormal cardiovascular system physiology, Hepatic ... |
ORPHA:79086 |
Wolman Disease |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly |
OMIM:620151 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Cirrhosis... |
ORPHA:79083 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly |
OMIM:613385 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... |
OMIM:619868 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Conge... |
ORPHA:52430 |
Rift Valley Fever |
|
Gingival bleeding, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, He... |
ORPHA:319251 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... |
ORPHA:98907 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypotension, Septic arthritis, Hepatitis, Fasciitis, Shock, Osteomyelitis, Skin rash, ... |
ORPHA:36234 |
Galactose Mutarotase Deficiency |
|
Cholestasis, Hepatomegaly, Decreased liver function |
ORPHA:570422 |
Simple Cryoglobulinemia |
|
Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Nephritis, Cong... |
ORPHA:91139 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... |
ORPHA:183675 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia |
OMIM:619433 |
Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... |
ORPHA:79322 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Dilated cardiomyopathy, Hepatosplenomegaly, Hypersplenism, High-output congesti... |
ORPHA:231226 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Congenital Generalized Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirrhosis, Hepatomegaly |
ORPHA:528 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Myositis, Raynaud phenomenon |
ORPHA:589 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... |
OMIM:610717 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Pancreati... |
ORPHA:2348 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Cheilitis, Hepatitis |
ORPHA:1334 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration |
ORPHA:890 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Vasculitis, Hepatic failure, Lymphoma, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulmi... |
OMIM:308240 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... |
OMIM:613313 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Macrovesicular hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase concentration |
ORPHA:298 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Splenomegaly, ... |
OMIM:620565 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly |
OMIM:616622 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... |
OMIM:307200 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly |
OMIM:603902 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur... |
OMIM:617156 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan... |
ORPHA:247585 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Hypersplenism, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, ... |
ORPHA:3261 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... |
ORPHA:227990 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:435660 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma |
OMIM:617883 |
Familial Chylomicronemia Syndrome |
|
Pulmonary embolism, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal absce... |
ORPHA:444490 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosis |
OMIM:210200 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:98908 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly |
OMIM:607685 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:172 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... |
OMIM:619377 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... |
ORPHA:348 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... |
ORPHA:37042 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, He... |
OMIM:619487 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:618329 |
Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... |
ORPHA:2552 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly |
OMIM:133180 |
Spondyloenchondrodysplasia |
|
Pneumonia, Vasculitis, Hepatitis, Skin rash, Enchondroma, Raynaud phenomenon, Arthritis, Juvenile... |
ORPHA:1855 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Acute otitis media, Chronic... |
ORPHA:572 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Vasculitis, Hematochezia, Pneumonia, Atopic dermatitis, Hepatitis, Hypertroph... |
OMIM:615846 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myocardial infarction, Pancreatitis, Hepatic steatosis, Reduced cystathionine beta-synthase activ... |
OMIM:236200 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... |
ORPHA:227982 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Congestive heart failure, Elevated circulating aspartate aminotransferase con... |
OMIM:617253 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Sinusitis, Chronic otitis media, Otitis media |
ORPHA:908 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... |
OMIM:614924 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
OMIM:619463 |
Leptospirosis |
|
Hypotension, Uveitis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorr... |
ORPHA:509 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... |
OMIM:240300 |
Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Hepatic steatosis, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, ... |
OMIM:613327 |
Dysbetalipoproteinemia |
|
Gout, Hepatic steatosis, Angina pectoris, Hepatomegaly, Acute pancreatitis |
ORPHA:412 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Psoriasiform dermatitis, Interface hepatitis, Enterocolitis, T-cell lymphoma |
OMIM:243150 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Congestive heart failure,... |
ORPHA:391487 |
Zygomycosis |
|
Pustule, Hematological neoplasm, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemor... |
ORPHA:73263 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cardiomyopathy |
ORPHA:445038 |
Garg-Mishra Progeroid Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis |
OMIM:620601 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Nephroblastomatosis |
OMIM:608022 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Myeloproliferative disord... |
ORPHA:3260 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Mitral regurgitat... |
ORPHA:746 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... |
ORPHA:2088 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... |
ORPHA:728 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Accessory spleen, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
Mccune-Albright Syndrome |
|
Hepatitis, Cholestasis, Benign gastrointestinal tract tumors, Pancreatitis, Hepatocellular adenom... |
ORPHA:562 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Hepatic calcification, Arrhythmia, Reduced ti... |
ORPHA:228308 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hyperechogenic pan... |
OMIM:617052 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Elevated circula... |
OMIM:608836 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neoplasm, Hepatic steatosis, Supraventri... |
ORPHA:2959 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Diffuse hepatic steatosis |
ORPHA:436271 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Cirrho... |
OMIM:616860 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Chronic otitis medi... |
ORPHA:83471 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevated circulating hepat... |
ORPHA:247598 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis |
OMIM:619273 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Mitral regurgitation, Hepatic steatosis, Arrhythmia |
ORPHA:254346 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis |
OMIM:618278 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... |
OMIM:300755 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Pituitary adenoma, Hepatitis, Hashimoto thyroiditis, Orthostatic hypotension |
ORPHA:199299 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Thyroiditis, Epistaxis, Inflammation of the large intestine, Abnormal bleeding, Bruising suscepti... |
ORPHA:79259 |
Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Wilson Disease |
|
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis |
ORPHA:83597 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly |
OMIM:618852 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentr... |
ORPHA:66634 |
Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Prolonged pr... |
OMIM:616271 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hepatic ste... |
OMIM:229600 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... |
OMIM:203800 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati... |
OMIM:212065 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch... |
ORPHA:436252 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Pituitary adenoma, Neuroendocrine neoplasm, Bruising susceptibility, Meningioma, Hepatic st... |
ORPHA:189427 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyop... |
OMIM:619573 |
Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... |
ORPHA:131 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Palpable purpura, Inflammatory abnormality of the skin, Cerebr... |
ORPHA:48435 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Lysosomal Acid Lipase Deficiency |
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Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:275761 |
D-Bifunctional Protein Deficiency |
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Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... |
OMIM:261515 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
OMIM:124000 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... |
OMIM:616263 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steat... |
OMIM:615356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Decreased liver function, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets,... |
OMIM:220110 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent... |
ORPHA:280365 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... |
ORPHA:263455 |
Kawasaki Disease |
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Vasculitis, Hepatitis, Conjunctivitis, Congestive heart failure, Cholecystitis, Skin rash, Arrhyt... |
ORPHA:2331 |
Propionic Acidemia |
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Hepatomegaly |
ORPHA:35 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Lip... |
ORPHA:20 |
Primary Sjögren Syndrome |
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Vasculitis, Biliary cirrhosis, Arteritis, Lymphoma, Parotitis, Chronic hepatitis, Lymphocytic int... |
ORPHA:289390 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen... |
OMIM:608594 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:619525 |
Cartilage-Hair Hypoplasia |
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Abnormality of chromosome stability, Cardiomyopathy, Hepatomegaly, Abnormality of the pancreas, H... |
ORPHA:175 |
Mosaic Trisomy 9 |
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Asplenia, Patent ductus arteriosus, Abnormal liver lobulation |
ORPHA:99776 |
Mucopolysaccharidosis-Plus Syndrome |
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Nephritis, Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomega... |
OMIM:617303 |
Klatskin Tumor |
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Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
Abetalipoproteinemia |
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Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Con... |
ORPHA:14 |
Immunodeficiency 82 With Systemic Inflammation |
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Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Splenomegaly, Skin ra... |
OMIM:619381 |
Meckel Syndrome, Type 3 |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Fanconi Anemia, Complementation Group D2 |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Bruising susceptibil... |
OMIM:227646 |
Gaucher Disease |
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Gingival bleeding, Splenic infarction, Cholelithiasis, Hepatic failure, Abnormal bleeding, Hepati... |
ORPHA:355 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste... |
OMIM:269700 |
Fanconi Anemia, Complementation Group V |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Glycogen Storage Disease Ixa1 |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly |
OMIM:306000 |
Fish-Eye Disease |
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Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Hypertension, Hepatic steatosis, Acute pancreatitis |
OMIM:151660 |
Sarcoidosis |
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Hepatic failure, Bronchiectasis, Uveitis, Decreased liver function, Parotitis, Portal hypertensio... |
ORPHA:797 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l... |
OMIM:614946 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Inflammation of the large intestine, Chromosomal breakage induced by crosslinking agents, Petechi... |
OMIM:620133 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Vitreous hemorrhage, Pancre... |
OMIM:620371 |
Fanconi Anemia, Complementation Group P |
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Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Turcot Syndrome With Polyposis |
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Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... |
ORPHA:99818 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Abnormal ci... |
ORPHA:17 |
Fanconi Anemia, Complementation Group N |
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Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... |
OMIM:610832 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hypertrophic car... |
ORPHA:309854 |
Lujo Hemorrhagic Fever |
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Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta... |
ORPHA:319213 |
Arima Syndrome |
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Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypertension |
OMIM:243910 |
Caroli Disease |
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Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
Liver Disease, Severe Congenital |
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Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... |
OMIM:619991 |
Pearson Syndrome |
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Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Exocrin... |
ORPHA:699 |
Fanconi Anemia, Complementation Group E |
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Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:600901 |
Nijmegen Breakage Syndrome |
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Acute leukemia, Abnormality of chromosome stability, Glioma, Recurrent pneumonia, Lymphoma, Neopl... |
ORPHA:647 |
Hyperzincemia With Functional Zinc Depletion |
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Hepatomegaly |
OMIM:601979 |
Fanconi Anemia, Complementation Group U |
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Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... |
OMIM:613658 |
Fanconi Anemia, Complementation Group B |
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Abnormality of chromosome stability, Patent ductus arteriosus |
OMIM:300514 |
Fanconi Anemia, Complementation Group A |
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Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:227650 |
Occipital Horn Syndrome |
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Bruising susceptibility, Hepatitis, Cholestasis, Esophagitis, Exostoses, Jaundice |
ORPHA:198 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Patent ductus arteriosus, Hepatic steatosis |
OMIM:619934 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Icf Syndrome |
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Abnormality of chromosome stability |
ORPHA:2268 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:612714 |
Fanconi Anemia |
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Abnormality of chromosome stability, Hypertrophic cardiomyopathy, Abnormality of the liver, Neopl... |
ORPHA:84 |
Fanconi Anemia, Complementation Group I |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
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Hepatomegaly, Splenomegaly |
OMIM:620296 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Congestive heart failure, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
Riddle Syndrome |
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Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Telangiecta... |
ORPHA:420741 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Fanconi Anemia, Complementation Group C |
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Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:227645 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Aromatase Deficiency |
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Hepatic steatosis |
ORPHA:91 |
Fanconi Anemia, Complementation Group R |
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Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice |
OMIM:266200 |
Isolated Biliary Atresia |
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Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho... |
OMIM:300868 |
Fanconi Anemia, Complementation Group F |
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Pneumonia, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus |
OMIM:603467 |
Glycogen Storage Disease Ic |
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Spider hemangioma, Inflammation of the large intestine, Chronic pancreatitis, Gout, Hepatoblastom... |
OMIM:232240 |
Overhydrated Hereditary Stomatocytosis |
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Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:185000 |
Fanconi Anemia, Complementation Group L |
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Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Myelofibrosis |
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Hepatomegaly, Splenomegaly |
OMIM:254450 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99413 |
Turner Syndrome |
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Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:881 |
Mosaic Monosomy X |
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Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99228 |
Monosomy X |
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Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99226 |
Congenital Disorder Of Glycosylation, Type Iiaa |
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Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Meningioma |
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Neoplasm of the skin, Neurofibroma, Neoplasm of the anterior pituitary, Spinal meningioma, Neopla... |
ORPHA:2495 |
Atypical Werner Syndrome |
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Aortic valve stenosis, Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Congestive ... |
ORPHA:79474 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... |
OMIM:263200 |
Smith-Lemli-Opitz Syndrome |
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Cholestatic liver disease, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Recurrent otitis m... |
OMIM:270400 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Mitral regurgit... |
OMIM:619127 |
Caroli Syndrome |
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Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Jaundice, Splenomegaly |
OMIM:616689 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hepatic steatosis |
OMIM:619321 |
Homozygous Familial Hypercholesterolemia |
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Supravalvular aortic stenosis, Mitral regurgitation, Hepatic steatosis, Hypertension, Angina pect... |
ORPHA:391665 |
1P36 Deletion Syndrome |
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Dilated cardiomyopathy, Annular pancreas, Abnormality of the spleen, Abnormality of the liver, He... |
ORPHA:1606 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Neurofibroma, Cong... |
OMIM:619475 |
Bardet-Biedl Syndrome |
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Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
ORPHA:110 |
Ogden Syndrome |
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Eczematoid dermatitis, Torsade de pointes, Premature atrial contractions, Recurrent otitis media,... |
OMIM:300855 |
Alström Syndrome |
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Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome... |
ORPHA:64 |
Digeorge Syndrome |
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Cholelithiasis, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatic steatosis, Rec... |
OMIM:188400 |
Pmm2-Cdg |
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Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, ... |
ORPHA:79318 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hypertrophic cardiomyopathy, Mitral regurgitation, Microvesicular hepatic steatosis, Hypertension... |
OMIM:220111 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Atopic dermatitis, Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Ischemic stroke, Port... |
OMIM:619503 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly |
OMIM:615947 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent otitis media, Hepatic steatosis, Synovitis, Recurrent skin infections, Pulmonic stenosis |
ORPHA:3455 |