Agent Commons Collaborative Research

Progressive familial intrahepatic cholestasis

rare

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

Identifiers
MONDO:0015762 Orphanet:172
Part of
Familial intrahepatic cholestasisInborn disorder of bilirubin metabolismSyndromic disease
Also known as
cholestasis, progressive familial intrahepatic · PFIC

Subtypes

All diseases Rare only
Disease Subtypes
MYO5B-related progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Cholestasis, progressive familial intrahepatic, 10
Cholestasis, progressive familial intrahepatic, 11
Cholestasis, progressive familial intrahepatic, 12
Cholestasis, progressive familial intrahepatic, 13
Cholestasis, progressive familial intrahepatic, 4
Cholestasis, progressive familial intrahepatic, 5
Cholestasis, progressive familial intrahepatic, 6
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
Cholestasis, progressive familial intrahepatic, 8
Cholestasis, progressive familial intrahepatic, 9
Hereditary North American Indian childhood cirrhosis
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3

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