KEGG DISEASE: Progressive familial intrahepatic cholestasis

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

Inherited metabolic disorder

Brite

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

Pathway

Bile secretion

Cholesterol metabolism

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]
(PFIC9) ZFYVE19 [HSA:84936] [KO:K24778]
(PFIC10) MYO5B [HSA:4645] [KO:K10357]
(PFIC11) SEMA7A [HSA:8482] [KO:K06529]
(PFIC12) VPS33B [HSA:26276] [KO:K23281]

Drug

Odevixibat [DR:D11716]

Other DBs

ICD-11:

5C58.03 5C52.11

ICD-10:

MeSH:

OMIM:

211600 601847 602347 615878 617049 619484 619658 619662 619849 619868 619874 620010

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 (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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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