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congenital bile acid synthesis defect 4
Summary
- Synonym
-
- CBAS4
- intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
- trihydroxycoprostanic acid in bile
- Definition
- A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.
- Super Class
- congenital bile acid synthesis defect
External Links
- Disease Ontology
- DOID:0111068
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51659 | Peroxisomal multifunctional enzyme type 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003623 | Neonatal onset |
| HP:0012053 | Decreased circulating calcifediol concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008151 | Prolonged prothrombin time |
| HP:0002240 | Hepatomegaly |
| HP:0100513 | Decreased circulating vitamin E concentration |
| HP:0002630 | Fat malabsorption |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0003645 | Prolonged partial thromboplastin time |
