/congenital bile acid synthesis defect 1

congenital bile acid synthesis defect 1

Rare Disease

MONDO:0011906

Also Known As

3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1BASD1CBAS1HSD3B7 congenital bile acid synthesis defectbile acid synthesis defect, congenital, type 1congenital bile acid synthesis defect 1congenital bile acid synthesis defect caused by mutation in HSD3B7congenital bile acid synthesis defect type 13-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency ofbile acid synthesis defect, congenital, 1congenital bile acid synthesis defect, type 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.