| H00624 | |
| H number | H00624 |
| 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 | Inherited metabolic disorder |
| Network | - |
| 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] (PFIC9) ZFYVE19 [HSA:84936] [KO:K24778] (PFIC10) MYO5B [HSA:4645] [KO:K10357] (PFIC11) SEMA7A [HSA:8482] [KO:K06529] (PFIC12) VPS33B [HSA:26276] [KO:K23281] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Odevixibat [DR:D11716] |
| Comment | - |
| Other DBs | ICD-11: 5C58.03 5C52.11 ICD-10: K83.1 MeSH: D002780 OMIM: 211600 601847 602347 615878 617049 619484 619658 619662 619849 619868 619874 620010 |
| Reference | PMID:28195083 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 PMID:27785268 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 PMID:9500542 (PFIC1) 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 PMID:9806540 (PFIC2) 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 PMID:9419367 (PFIC3) 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 PMID:24614073 (PFIC4) 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 PMID:26888176 (PFIC5) 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 PMID:31863603 (PFIC6) 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 PMID:32124521 (PFIC7) 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 PMID:34555379 (PFIC8) 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 PMID:32737136 (PFIC9) AUTHORS Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS TITLE Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. JOURNAL J Med Genet 58:514-525 (2021) DOI:10.1136/jmedgenet-2019-106706 PMID:27532546 (PFIC10) AUTHORS Gonzales E, Taylor SA, Davit-Spraul A, Thebaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E TITLE MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. JOURNAL Hepatology 65:164-173 (2017) DOI:10.1002/hep.28779 PMID:34585848 (PFIC11) AUTHORS Pan Q, Luo G, Qu J, Chen S, Zhang X, Zhao N, Ding J, Yang H, Li M, Li L, Cheng Y, Li X, Xie Q, Li Q, Zhou X, Zou H, Fan S, Zou L, Liu W, Deng G, Cai SY, Boyer JL, Chai J TITLE A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis. JOURNAL EMBO Mol Med 13:e14563 (2021) DOI:10.15252/emmm.202114563 PMID:31479177 (PFIC12) AUTHORS Qiu YL, Liu T, Abuduxikuer K, Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS TITLE Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. JOURNAL Hum Mutat 40:2247-2257 (2019) DOI:10.1002/humu.23770 |