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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital bile acid synthesis defect
Summary
- Synonym
-
- 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
- CBA
- cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
- Definition
- A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
- Super Class
- physical disorder steroid inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0050674
- ORDO
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
| 6718 | AKR1D1 | aldo-keto reductase family 1 member D1 | |
| 9420 | CYP7B1 | cytochrome P450 family 7 subfamily B member 1 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
