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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:0200084 | Giant cell hepatitis |
| HP:0001298 | Encephalopathy |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000135 | Hypogonadism |
| HP:0001328 | Specific learning disability |
| HP:0003201 | Rhabdomyolysis |
| HP:0000580 | Pigmentary retinopathy |
| HP:0011892 | Decreased circulating vitamin K concentration |
| HP:0001250 | Seizure |
| HP:0002401 | Stroke-like episode |
