Bile Acid Synthesis Defect, Congenital, 5 (CBAS5)

Bile Acid Synthesis Defect, Congenital, 5, also known as congenital bile acid synthesis defect 5, is related to congenital bile acid synthesis defect and peroxisomal biogenesis disorder. An important gene associated with Bile Acid Synthesis Defect, Congenital, 5 is ABCD3 (ATP Binding Cassette Subfamily D Member 3), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include liver and bone marrow, and related phenotypes are splenomegaly and hepatomegaly