" /> Hypercholanemia, familial 1 - CISMeF





Preferred Label : Hypercholanemia, familial 1;

Symbol : FHCA1;

CISMeF acronym : FHCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bile acid, elevated serum;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the epoxide hydroxylase 1 gene (EPHX1, 132810.0003);

Laboratory abnormalities : Elevated serum bile acids (hypercholanemia);

Prefixed ID : #607748;

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29/07/2025


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