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Congenital bile acid synthesis defect 1
rareCongenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
- Identifiers
- MONDO:0011906 OMIM:607765Orphanet:79301
- Causal genes
- HSD3B7
- Also known as
- 3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1 · BASD1 · bile acid synthesis defect, congenital, 1 · bile acid synthesis defect, congenital, type 1
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