Bile Acid Synthesis Defect, Congenital, 3 (CBAS3)

Bile Acid Synthesis Defect, Congenital, 3, also known as congenital bile acid synthesis defect 3, is related to cholestasis and congenital bile acid synthesis defect, and has symptoms including diarrhea and icterus. An important gene associated with Bile Acid Synthesis Defect, Congenital, 3 is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include liver and bone marrow, and related phenotypes are cirrhosis and jaundice