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congenital bile acid synthesis defect 2
Summary
- Synonym
-
- CBAS2
- cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Definition
- A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.
- Super Class
- congenital bile acid synthesis defect
External Links
- Disease Ontology
- DOID:0111069
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000107 | Renal cyst |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0002570 | Steatorrhea |
| HP:0011040 | Abnormal intrahepatic bile duct morphology |
| HP:0001399 | Hepatic failure |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0100513 | Decreased circulating vitamin E concentration |
| HP:0001978 | Extramedullary hematopoiesis |
