congenital bile acid synthesis defect 4 (DOID:0111068)
Alliance: disease page
Synonyms: CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; trihydroxycoprostanic acid in bile
Alt IDs: OMIM:214950, MESH:C535444, ORDO:79095, UMLS_CUI:C1858328
Definition: A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.