" /> Cholestasis, progressive familial intrahepatic, 1 - CISMeF





Preferred Label : Cholestasis, progressive familial intrahepatic, 1;

Symbol : PFIC1;

CISMeF acronym : PFIC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Byler disease;

Description : Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). - Genetic Heterogeneity of Progressive Familial Intrahepatic Cholestasis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, 602397.0001);

Laboratory abnormalities : Normal or mildly increased serum gamma-GGT (231950); Decreased serum cholesterol; Conjugated hyperbilirubinemia; Increased serum bile acids;

Prefixed ID : #211600;

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30/07/2025


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