congenital bile acid synthesis defect 1

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

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.

Signs and symptoms

• Reduced C27 3beta-HSD activity in cultured fibroblasts
• Hepatomegaly
• Jaundice
• Diarrhea
• Fat malabsorption
• Hepatic failure
• Abnormality of the coagulation cascade
• Hypocholesterolemia
• Cirrhosis
• Giant cell hepatitis

Also known as: CBAS1