Orphanet classification: Rare hepatic disease (ORPHA:57146)
Disorder type: Category
Subcategories and diseases:
Name: Transient familial neonatal hyperbilirubinemia
OrphaCode: 2312
DisorderType: Disease
Name: Rare vascular liver disease
OrphaCode: 101938
DisorderType: Category
Children: Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Idiopathic peliosis hepatis
OrphaCode: 480524
DisorderType: Disease
Name: Congenital anomaly of hepatic vein
OrphaCode: 95507
DisorderType: Morphological anomaly
Name: Congenital portosystemic shunt
OrphaCode: 480531
DisorderType: Morphological anomaly
Name: Budd-Chiari syndrome
OrphaCode: 131
DisorderType: Disease
Name: Hepatic veno-occlusive disease
OrphaCode: 890
DisorderType: Disease
Name: Primitive portal vein thrombosis
OrphaCode: 854
DisorderType: Clinical syndrome
Name: Hepatic veno-occlusive disease-immunodeficiency syndrome
OrphaCode: 79124
DisorderType: Disease
Name: Portosinusoidal vascular disease
OrphaCode: 596937
DisorderType: Disease
Children: Name: Incomplete septal cirrhosis
OrphaCode: 596941
DisorderType: Histopathological subtype
Name: Nodular regenerative hyperplasia of the liver
OrphaCode: 48372
DisorderType: Histopathological subtype
Name: Hepatoportal sclerosis
OrphaCode: 64743
DisorderType: Histopathological subtype
Name: Rare parenchymal liver disease
OrphaCode: 101939
DisorderType: Category
Children: Name: Autoimmune hepatitis
OrphaCode: 2137
DisorderType: Disease
Children: Name: Autoimmune hepatitis type 1
OrphaCode: 563576
DisorderType: Clinical subtype
Name: Autoimmune hepatitis type 2
OrphaCode: 563581
DisorderType: Clinical subtype
Name: Seronegative autoimmune hepatitis
OrphaCode: 563589
DisorderType: Clinical subtype
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Fulminant viral hepatitis
OrphaCode: 35063
DisorderType: Disease
Name: Cirrhotic cardiomyopathy
OrphaCode: 57777
DisorderType: Disease
Name: Syndromic diarrhea
OrphaCode: 84064
DisorderType: Disease
Name: Inflammatory pseudotumor of the liver
OrphaCode: 90003
DisorderType: Disease
Children: Name: Fibrohistiocytic inflammatory pseudotumor of the liver
OrphaCode: 555434
DisorderType: Clinical subtype
Name: Lymphoplasmacytic inflammatory pseudotumor of the liver
OrphaCode: 555437
DisorderType: Clinical subtype
Name: Idiopathic copper-associated cirrhosis
OrphaCode: 209919
DisorderType: Disease
Name: Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
OrphaCode: 210136
DisorderType: Disease
Name: Acute fatty liver of pregnancy
OrphaCode: 243367
DisorderType: Disease
Name: Transient infantile hypertriglyceridemia and hepatosteatosis
OrphaCode: 300293
DisorderType: Disease
Name: Acute infantile liver failure-multisystemic involvement syndrome
OrphaCode: 370088
DisorderType: Disease
Name: Growth retardation-mild developmental delay-chronic hepatitis syndrome
OrphaCode: 391366
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Isolated congenital hepatic fibrosis
OrphaCode: 485426
DisorderType: Disease
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Fever-associated acute infantile liver failure syndrome
OrphaCode: 464724
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Growth delay-intellectual disability-hepatopathy syndrome
OrphaCode: 541423
DisorderType: Disease
Name: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
OrphaCode: 440427
DisorderType: Disease
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
OrphaCode: 217371
DisorderType: Disease
Name: Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
OrphaCode: 562639
DisorderType: Disease
Name: Rare metabolic liver disease
OrphaCode: 101940
DisorderType: Category
Children: Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: Intrahepatic cholestasis of pregnancy
OrphaCode: 69665
DisorderType: Disease
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to liver glycogen phosphorylase deficiency
OrphaCode: 369
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Crigler-Najjar syndrome
OrphaCode: 205
DisorderType: Disease
Children: Name: Crigler-Najjar syndrome type 1
OrphaCode: 79234
DisorderType: Clinical subtype
Name: Crigler-Najjar syndrome type 2
OrphaCode: 79235
DisorderType: Clinical subtype
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Neonatal hemochromatosis
OrphaCode: 446
DisorderType: Disease
Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency
OrphaCode: 364
DisorderType: Disease
Children: Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OrphaCode: 79258
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Dubin-Johnson syndrome
OrphaCode: 234
DisorderType: Disease
Name: Rotor syndrome
OrphaCode: 3111
DisorderType: Disease
Name: Steroid dehydrogenase deficiency-dental anomalies syndrome
OrphaCode: 3196
DisorderType: Disease
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Fanconi-Bickel syndrome
OrphaCode: 2088
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
OrphaCode: 79240
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form
OrphaCode: 254871
DisorderType: Clinical group
Children: Name: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
OrphaCode: 279934
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Navajo neurohepatopathy
OrphaCode: 255229
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
OrphaCode: 137681
DisorderType: Disease
Name: Dietary iron overload disease
OrphaCode: 139507
DisorderType: Disease
Name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
OrphaCode: 217371
DisorderType: Disease
Name: Rare hereditary hemochromatosis
OrphaCode: 220489
DisorderType: Category
Children: Name: Symptomatic form of HFE-related hemochromatosis
OrphaCode: 465508
DisorderType: Disease
Name: Non-HFE-related hemochromatosis
OrphaCode: 648569
DisorderType: Clinical group
Children: Name: TFR2-related hemochromatosis
OrphaCode: 225123
DisorderType: Disease
Name: SLC40A1-related hemochromatosis
OrphaCode: 647834
DisorderType: Disease
Name: HJV or HAMP-related hemochromatosis
OrphaCode: 79230
DisorderType: Disease
Name: Digenic hemochromatosis
OrphaCode: 648581
DisorderType: Disease
Name: FTH1-related iron overload
OrphaCode: 247790
DisorderType: Disease
Name: Glycogen storage disease due to liver phosphorylase kinase deficiency
OrphaCode: 264580
DisorderType: Disease
Name: Familial intrahepatic cholestasis
OrphaCode: 284385
DisorderType: Category
Children: Name: Progressive familial intrahepatic cholestasis
OrphaCode: 172
DisorderType: Disease
Children: Name: Progressive familial intrahepatic cholestasis type 2
OrphaCode: 79304
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 3
OrphaCode: 79305
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 1
OrphaCode: 79306
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 4
OrphaCode: 480483
DisorderType: Clinical subtype
Name: MYO5B-related progressive familial intrahepatic cholestasis
OrphaCode: 480491
DisorderType: Clinical subtype
Name: Hereditary North American Indian childhood cirrhosis
OrphaCode: 168583
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 5
OrphaCode: 480476
DisorderType: Clinical subtype
Name: Benign recurrent intrahepatic cholestasis
OrphaCode: 65682
DisorderType: Disease
Children: Name: Benign recurrent intrahepatic cholestasis type 1
OrphaCode: 99960
DisorderType: Clinical subtype
Name: Benign recurrent intrahepatic cholestasis type 2
OrphaCode: 99961
DisorderType: Clinical subtype
Name: Bile acid synthesis defect with cholestasis and malabsorption
OrphaCode: 163631
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Congenital bile acid synthesis defect
OrphaCode: 485631
DisorderType: Clinical group
Children: Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 3
OrphaCode: 79302
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 2
OrphaCode: 79303
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 1
OrphaCode: 79301
DisorderType: Disease
Name: Familial hypercholanemia
OrphaCode: 238475
DisorderType: Disease
Name: Bile acid CoA ligase deficiency and defective amidation
OrphaCode: 276066
DisorderType: Disease
Name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
OrphaCode: 309854
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Congenital disorder of glycosylation with hepatic involvement
OrphaCode: 371157
DisorderType: Category
Children: Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: MPI-CDG
OrphaCode: 79319
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: PGM1-CDG
OrphaCode: 319646
DisorderType: Disease
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: Ferroportin disease
OrphaCode: 648562
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: GRACILE syndrome
OrphaCode: 53693
DisorderType: Disease
Name: Renal tubulopathy-encephalopathy-liver failure syndrome
OrphaCode: 254902
DisorderType: Disease
Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Citrullinemia type II
OrphaCode: 247585
DisorderType: Disease
Name: Rare biliary tract disease
OrphaCode: 101941
DisorderType: Category
Children: Name: Parenteral nutrition-associated cholestasis
OrphaCode: 567983
DisorderType: Particular clinical situation in a disease or syndrome
Name: Gallbladder duplication
OrphaCode: 662388
DisorderType: Morphological anomaly
Name: Caroli syndrome
OrphaCode: 480520
DisorderType: Malformation syndrome
Name: Idiopathic ductopenia
OrphaCode: 480512
DisorderType: Disease
Name: Primary intrahepatic lithiasis
OrphaCode: 480506
DisorderType: Disease
Name: Choledochal cyst
OrphaCode: 480501
DisorderType: Morphological anomaly
Name: Sclerosing cholangitis
OrphaCode: 447771
DisorderType: Clinical group
Children: Name: Neonatal ichthyosis-sclerosing cholangitis syndrome
OrphaCode: 59303
DisorderType: Disease
Name: Isolated neonatal sclerosing cholangitis
OrphaCode: 480556
DisorderType: Disease
Name: Primary sclerosing cholangitis
OrphaCode: 171
DisorderType: Disease
Name: IgG4-related sclerosing cholangitis
OrphaCode: 447764
DisorderType: Clinical subtype
Name: Secondary sclerosing cholangitis
OrphaCode: 447774
DisorderType: Disease
Name: Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
OrphaCode: 562639
DisorderType: Disease
Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Isolated polycystic liver disease
OrphaCode: 2924
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Congenital respiratory-biliary fistula
OrphaCode: 2040
DisorderType: Morphological anomaly
Name: Primary biliary cholangitis
OrphaCode: 186
DisorderType: Disease
Name: Reynolds syndrome
OrphaCode: 779
DisorderType: Disease
Name: Biliary atresia and associated disorders
OrphaCode: 498345
DisorderType: Category
Children: Name: Isolated biliary atresia
OrphaCode: 30391
DisorderType: Morphological anomaly
Name: Syndromic biliary atresia
OrphaCode: 498350
DisorderType: Clinical group
Children: Name: Biliary atresia with splenic malformation syndrome
OrphaCode: 244283
DisorderType: Malformation syndrome
Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
OrphaCode: 293864
DisorderType: Malformation syndrome
Name: Caroli disease
OrphaCode: 53035
DisorderType: Malformation syndrome
Name: Low phospholipid-associated cholelithiasis
OrphaCode: 69663
DisorderType: Disease
Name: Follicular cholangitis and pancreatitis
OrphaCode: 300552
DisorderType: Disease
Name: Isolated agenesis of gallbladder
OrphaCode: 440987
DisorderType: Morphological anomaly
Name: Mirizzi syndrome
OrphaCode: 521219
DisorderType: Clinical syndrome
Name: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
OrphaCode: 521432
DisorderType: Disease
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Rare hepatic and biliary tract tumor
OrphaCode: 101943
DisorderType: Category
Children: Name: Rare tumor of gallbladder and extrahepatic biliary tract
OrphaCode: 306633
DisorderType: Category
Children: Name: Carcinoma of gallbladder and extrahepatic biliary tract
OrphaCode: 56044
DisorderType: Clinical group
Children: Name: Cholangiocarcinoma
OrphaCode: 70567
DisorderType: Disease
Name: Klatskin tumor
OrphaCode: 99978
DisorderType: Disease
Name: Adenocarcinoma of the gallbladder and extrahepatic biliary tract
OrphaCode: 424991
DisorderType: Disease
Name: Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
OrphaCode: 424996
DisorderType: Disease
Name: Combined hepatocellular carcinoma and cholangiocarcinoma
OrphaCode: 529852
DisorderType: Disease
Name: Gallbladder neuroendocrine tumor
OrphaCode: 100086
DisorderType: Disease
Name: Rare tumor of liver and intrahepatic biliary tract
OrphaCode: 306636
DisorderType: Category
Children: Name: Hepatoblastoma
OrphaCode: 449
DisorderType: Disease
Name: Hepatic cystic hamartoma
OrphaCode: 386
DisorderType: Disease
Name: Hepatocellular adenoma
OrphaCode: 54272
DisorderType: Disease
Name: Undifferentiated embryonal sarcoma of the liver
OrphaCode: 178315
DisorderType: Disease
Name: Rare malignant epithelial tumor of liver and intrahepatic biliary tract
OrphaCode: 424933
DisorderType: Category
Children: Name: Primary hepatic neuroendocrine carcinoma
OrphaCode: 100085
DisorderType: Disease
Name: Carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424936
DisorderType: Category
Children: Name: Combined hepatocellular carcinoma and cholangiocarcinoma
OrphaCode: 529852
DisorderType: Disease
Name: Cholangiocarcinoma
OrphaCode: 70567
DisorderType: Disease
Name: Hepatocellular carcinoma
OrphaCode: 88673
DisorderType: Clinical group
Children: Name: Pediatric hepatocellular carcinoma
OrphaCode: 33402
DisorderType: Disease
Name: Adult hepatocellular carcinoma
OrphaCode: 210159
DisorderType: Disease
Name: Fibrolamellar hepatocellular carcinoma
OrphaCode: 401920
DisorderType: Disease
Name: Adenocarcinoma of the liver and intrahepatic biliary tract
OrphaCode: 424943
DisorderType: Disease
Name: Undifferentiated carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424970
DisorderType: Disease
Name: Squamous cell carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424975
DisorderType: Disease
Name: Biliary cystadenocarcinoma
OrphaCode: 424982
DisorderType: Disease
Name: Solitary necrotic nodule of the liver
OrphaCode: 100035
DisorderType: Disease
Name: Liver adenomatosis
OrphaCode: 566841
DisorderType: Disease
Name: Hyperbiliverdinemia
OrphaCode: 276405
DisorderType: Disease
Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Recurrent hepatitis C virus induced liver disease in liver transplant recipients
OrphaCode: 90052
DisorderType: Particular clinical situation in a disease or syndrome
Name: Acute liver failure
OrphaCode: 90062
DisorderType: Clinical syndrome
Name: Hepatitis B reinfection following liver transplantation
OrphaCode: 90073
DisorderType: Particular clinical situation in a disease or syndrome
Name: Hepatitis delta
OrphaCode: 402823
DisorderType: Disease