Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema |
OMIM:176090 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system |
OMIM:271500 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... |
ORPHA:369 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Prolonged neonatal jaundice |
ORPHA:446 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... |
OMIM:300635 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis |
OMIM:619111 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:232400 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepatosplenomegaly... |
OMIM:619858 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... |
ORPHA:79230 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... |
ORPHA:101330 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestinal inflammation, Abnor... |
ORPHA:186 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
Nephronophthisis 16 |
|
Periportal fibrosis, Cholestasis |
OMIM:615382 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas... |
OMIM:606003 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis |
OMIM:602579 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... |
ORPHA:169160 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... |
ORPHA:139402 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... |
ORPHA:829 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... |
ORPHA:171 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... |
OMIM:216360 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2377 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... |
ORPHA:541423 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... |
OMIM:308230 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... |
OMIM:613404 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Hepatic st... |
OMIM:201475 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Cholestasis, In... |
OMIM:615895 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Griscelli Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis |
ORPHA:381 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... |
OMIM:619487 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hepatic fibrosis, C... |
ORPHA:231226 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... |
ORPHA:247585 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... |
OMIM:619377 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
Donohue Syndrome |
|
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Infectious encephalitis |
ORPHA:1163 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension |
ORPHA:440713 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis |
ORPHA:292 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni... |
ORPHA:183675 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... |
ORPHA:454836 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Abnormal pancreas morphology, Hepatic fibr... |
ORPHA:48818 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis |
OMIM:613385 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni... |
ORPHA:37042 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Mednik Syndrome |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis |
OMIM:215600 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis |
ORPHA:110 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... |
ORPHA:2552 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Hepatic fibrosis, Cirrho... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Hepatic steatosis |
OMIM:212065 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... |
ORPHA:275761 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Hepatic fibrosis,... |
OMIM:222470 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis |
ORPHA:589 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis |
OMIM:614091 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Recurre... |
OMIM:203800 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration |
OMIM:207900 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Splenomegaly, Abnormality of the liver, Colitis, Hepatic fibrosis, Cirrh... |
ORPHA:84064 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous candidiasi... |
ORPHA:227990 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Cirrhosis, Portal hypertension |
ORPHA:974 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Congenital hepatic fibrosis |
ORPHA:2031 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Hepatic fibrosis |
OMIM:613989 |
Mucopolysaccharidosis Type 7 |
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Splenomegaly, Hepatitis |
ORPHA:584 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous candidiasi... |
ORPHA:227982 |
Relapsing Polychondritis |
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Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Spondyloenchondrodysplasia |
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Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Hepatic fibrosis, Cirrho... |
ORPHA:14 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Ele... |
OMIM:620005 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure |
ORPHA:415 |
Agammaglobulinemia, X-Linked |
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Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis |
OMIM:308240 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... |
ORPHA:83471 |
Rift Valley Fever |
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Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Kawasaki Disease |
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Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... |
ORPHA:2331 |
Joubert Syndrome 1 |
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Hepatic fibrosis |
OMIM:213300 |
Zygomycosis |
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Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... |
ORPHA:73263 |
Meckel Syndrome 14 |
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Hepatic fibrosis |
OMIM:619879 |
Acute Disseminated Encephalomyelitis |
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Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo... |
OMIM:124000 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Interface hepatitis, Psoriasiform dermatitis, Enterocolitis |
OMIM:243150 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... |
OMIM:615846 |
Arima Syndrome |
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Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Mccune-Albright Syndrome |
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Hepatocellular adenoma, Pancreatitis, Hepatitis, Cholestasis |
ORPHA:562 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy... |
ORPHA:3261 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
Bardet-Biedl Syndrome 1 |
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Biliary tract abnormality, Hepatic fibrosis |
OMIM:209900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Hepatosplenomegaly, Ente... |
ORPHA:391487 |
Simple Cryoglobulinemia |
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Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis |
ORPHA:91139 |
Congenital Disorder Of Deglycosylation 1 |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:615273 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... |
ORPHA:3260 |
Late-Onset Isolated Acth Deficiency |
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Hepatitis, Hashimoto thyroiditis |
ORPHA:199299 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... |
ORPHA:436252 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Hepatic fibrosis, Hepatic cysts |
OMIM:311200 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... |
OMIM:619381 |
Primary Sjögren Syndrome |
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Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Short-Rib Thoracic Dysplasia 12 |
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Splenomegaly, Hepatomegaly, Periportal fibrosis |
OMIM:269860 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho... |
ORPHA:99413 |
Turner Syndrome |
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Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho... |
ORPHA:881 |
Mosaic Monosomy X |
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Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho... |
ORPHA:99226 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacterial endocard... |
ORPHA:2072 |
Postinfectious Vasculitis |
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Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Leptospirosis |
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Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... |
ORPHA:509 |
Acute Liver Failure |
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Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Alg9-Cdg |
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Hepatomegaly, Periportal fibrosis, Hepatic cysts |
ORPHA:79328 |
Gaucher Disease |
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Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis |
ORPHA:355 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Occipital Horn Syndrome |
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Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:243800 |
Lujo Hemorrhagic Fever |
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Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... |
ORPHA:319213 |
Alström Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal... |
ORPHA:64 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morphology, Hepatic fibros... |
ORPHA:79318 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Congenital hepatic fibrosis |
ORPHA:93271 |
Thrombophilia Due To Thrombin Defect |
|
|
OMIM:188050 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
|
ORPHA:319487 |
Thyroid Cancer, Nonmedullary, 5 |
|
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OMIM:616535 |