/congenital bile acid synthesis defect 2

congenital bile acid synthesis defect 2

Rare Disease

MONDO:0009339

Also Known As

AKR1D1 congenital bile acid synthesis defectBASD2CBAS2bile acid synthesis defect, congenital, type 2cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiencycongenital bile acid synthesis defect caused by mutation in AKR1D1congenital bile acid synthesis defect type 2bile acid synthesis defect, congenital, 2cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiencycongenital bile acid synthesis defect, type 2

Definition

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.