You are using an outdated browser. Please upgrade your browser to improve your experience.

congenital bile acid synthesis defect 1

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.
Disease Ontology Description A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
Mondo Term and Equivalent IDs
MONDO:0011906:  congenital bile acid synthesis defect 1
GARD:0009813: 
MESH:C535442: 
Orphanet:79301: