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ENFamilial Hypercholanemia
Alias:
Hypercholanemia, Familial
Hereditary Hypercholanemia
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Familial Hypercholanemia, also known as hypercholanemia, familial, is related to hypercholanemia, familial 1 and bile acid conjugation defect 1. An important gene associated with Familial Hypercholanemia is BAAT (Bile Acid-CoA:Amino Acid N-Acyltransferase), and among its related pathways/superpathways are Metabolism of steroids and Synthesis of bile acids and bile salts. Affiliated tissues include liver, and related phenotypes are failure to thrive and rickets
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