KEGG   DISEASE: Progressive familial intrahepatic cholestasis
Entry
H00624                      Disease                                
Name
Progressive familial intrahepatic cholestasis
Description
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion.
Category
Digestive system disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Liver diseases
   H00624  Progressive familial intrahepatic cholestasis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00624  Progressive familial intrahepatic cholestasis
    5C58  Inborn errors of porphyrin or heme metabolism
     H00624  Progressive familial intrahepatic cholestasis
Related
pathway
hsa04976  Bile secretion
hsa04979  Cholesterol metabolism
hsa04530  Tight junction
Gene
(PFIC1) ATP8B1 [HSA:5205] [KO:K01530]
(PFIC2) ABCB11 [HSA:8647] [KO:K05664]
(PFIC3) ABCB4 [HSA:5244] [KO:K05659]
(PFIC4) TJP2 [HSA:9414] [KO:K06098]
(PFIC5) NR1H4 [HSA:9971] [KO:K08537]
(PFIC6) SLC51A [HSA:200931] [KO:K14360]
(PFIC7) USP53 [HSA:54532]
(PFIC8) KIF12 [HSA:113220] [KO:K10399]
Drug
Odevixibat [DR:D11716]
Other DBs
ICD-11: 5C58.03 5C52.11
ICD-10: K83.1
MeSH: D002780
OMIM: 211600 601847 602347 615878 617049 619484 619658 619662
Reference
  Authors
Gaur K, Sakhuja P
  Title
Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease.
  Journal
Indian J Pathol Microbiol 60:2-7 (2017)
DOI:10.4103/0377-4929.200040
Reference
  Authors
Amer S, Hajira A
  Title
A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters.
  Journal
Gastroenterology Res 7:39-43 (2014)
DOI:10.14740/gr609e
Reference
PMID:9500542 (ATP8B1)
  Authors
Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB
  Title
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
  Journal
Nat Genet 18:219-24 (1998)
DOI:10.1038/ng0398-219
Reference
PMID:9806540 (ABCB11)
  Authors
Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ
  Title
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
  Journal
Nat Genet 20:233-8 (1998)
DOI:10.1038/3034
Reference
PMID:9419367 (ABCB4)
  Authors
de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M
  Title
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
  Journal
Proc Natl Acad Sci U S A 95:282-7 (1998)
DOI:10.1073/pnas.95.1.282
Reference
PMID:24614073 (TJP2)
  Authors
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ
  Title
Mutations in TJP2 cause progressive cholestatic liver disease.
  Journal
Nat Genet 46:326-8 (2014)
DOI:10.1038/ng.2918
Reference
PMID:26888176 (NR1H4)
  Authors
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD
  Title
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
  Journal
Nat Commun 7:10713 (2016)
DOI:10.1038/ncomms10713
Reference
PMID:31863603 (SLC51A)
  Authors
Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson-Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S
  Title
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.
  Journal
Hepatology 71:1879-1882 (2020)
DOI:10.1002/hep.31087
Reference
PMID:32124521 (USP53)
  Authors
Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS
  Title
Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
  Journal
Liver Int 40:1142-1150 (2020)
DOI:10.1111/liv.14422
Reference
PMID:34555379 (KIF12)
  Authors
Stalke A, Sgodda M, Cantz T, Skawran B, Lainka E, Hartleben B, Baumann U, Pfister ED
  Title
KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
  Journal
J Pediatr 240:284-291.e9 (2022)
DOI:10.1016/j.jpeds.2021.09.019
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