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congenital bile adid synthesis defect type 1

MIM.607765 16p12-p11.2

Wednesday 27 May 2009

CBAS1 is caused by mutation in the gene encoding 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase (HSD3B7; MIM.607764) on chromosome 16p.

Differential diagnosis

There are other similar disorders that result from defects in bile acid synthesis

- CBAS1 is caused by mutation in the gene encoding 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase (HSD3B7; MIM.607764) on chromosome 16p.

- CBAS2 (MIM.235555) is caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q32.

- CBAS3 (MIM.603711) is caused by mutation in the 7-alpha hydroxylase gene (CYP7B1) on chromosome 8q21;

- CBAS4 (MIM.214950), caused by mutation in the AMACR gene (MIM.604489) on chromosome 5.