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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Crigler-Najjar syndrome
Summary
- Synonym
-
- Bilirubin UDP glucuronyl transferase deficiency
- Crigler Najjar syndrome
- Crigler-Najjar syndrome, type I
- Definition
- A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
- Super Class
- bilirubin metabolic disorder
External Links
- Disease Ontology
- DOID:3803
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 44058 | Ugt36A1 | UDP-glycosyltransferase family 36 member A1 | |
| 53501 | Ugt304A1 | UDP-glycosyltransferase family 304 member A1 | |
| 53502 | Ugt302K1 | UDP-glycosyltransferase family 302 member K1 | |
| 53503 | Ugt303A1 | UDP-glycosyltransferase family 303 member A1 | |
| 53506 | Ugt35E2 | UDP-glycosyltransferase family 35 member E2 | |
| 53507 | Ugt35C1 | UDP-glycosyltransferase family 35 member C1 | |
| 53511 | Ugt37D1 | UDP-glycosyltransferase family 37 member D1 | |
| 53512 | Ugt37E1 | UDP-glycosyltransferase family 37 member E1 | |
| 53583 | Ugt37C1 | UDP-glycosyltransferase family 37 member C1 | |
| 53584 | Ugt37B1 | UDP-glycosyltransferase family 37 member B1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001080 | Biliary tract abnormality |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0001250 | Seizure |
| HP:0002354 | Memory impairment |
| HP:0000952 | Jaundice |
| HP:0003577 | Congenital onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001298 | Encephalopathy |
