Congenital bile acid synthesis defect 2

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.

Also known as: AKR1D1 congenital bile acid synthesis defect, BASD2, CBAS2, bile acid synthesis defect, congenital, type 2, cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, congenital bile acid synthesis defect caused by mutation in AKR1D1, congenital bile acid synthesis defect type 2, bile acid synthesis defect, congenital, 2

1 clinical trial for this condition and its sub-types, 1 tagged with Congenital bile acid synthesis defect 2 itself.