Congenital Bile Acid Synthesis Defect

About the Disease
Congenital Bile Acid Synthesis Defect, also known as cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency, is related to bile acid synthesis defect, congenital, 2 and bile acid synthesis defect, congenital, 5, and has symptoms including diarrhea and icterus. An important gene associated with Congenital Bile Acid Synthesis Defect is HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. Affiliated tissues include liver, lung and bone, and related phenotypes are no effect and no effect

Common Targets
ACOX2 | CYP7B1 | HSD3B7

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