Bile Acid Synthesis Defect, Congenital, 2 (CBAS2)

Bile Acid Synthesis Defect, Congenital, 2, also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, is related to congenital bile acid synthesis defect and cholestasis, and has symptoms including diarrhea and icterus. An important gene associated with Bile Acid Synthesis Defect, Congenital, 2 is AKR1D1 (Aldo-Keto Reductase Family 1 Member D1), and among its related pathways/superpathways are Metabolism and Nuclear receptors meta-pathway. Affiliated tissues include liver and skin, and related phenotypes are hyperbilirubinemia and giant cell hepatitis