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congenital bile acid synthesis defect 5
Summary
- Synonym
-
- CBAS5
- Definition
- A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
- Super Class
- congenital bile acid synthesis defect
External Links
- Disease Ontology
- DOID:0111066
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28288 | ATP-binding cassette sub-family D member 3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55096 | ATP-binding cassette sub-family D member 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0001399 | Hepatic failure |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0000952 | Jaundice |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0006580 | Portal fibrosis |
| HP:0001744 | Splenomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002904 | Hyperbilirubinemia |
| HP:0003676 | Progressive |
