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Congenital bile acid synthesis defect 2
rareCongenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
- Identifiers
- MONDO:0009339 OMIM:235555Orphanet:79303
- Causal genes
- AKR1D1
- Also known as
- AKR1D1 congenital bile acid synthesis defect · BASD2 · bile acid synthesis defect, congenital, 2 · bile acid synthesis defect, congenital, type 2 · CBAS2
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