Congenital bile acid synthesis defect 1
Congenital bile acid synthesis defect 1
Definition
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
Also known as 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1, BASD1, bile acid synthesis defect, congenital, type 1, CBAS1, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect caused by mutation in HSD3B7, congenital bile acid synthesis defect type 1, HSD3B7 congenital bile acid synthesis defect — per MONDO