" /> Cholestasis, progressive familial intrahepatic, 3 - CISMeF





Preferred Label : Cholestasis, progressive familial intrahepatic, 3;

Symbol : PFIC3;

CISMeF acronym : PFIC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mdr3 deficiency; Cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4, 171060.0001);

Laboratory abnormalities : Increased serum gamma-GGT (231950); Abnormal liver function tests; Increased serum bile acids;

Prefixed ID : #602347;

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31/07/2025


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