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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 |
|---|---|---|---|
| 35105 | Ugt301D1 | UDP-glycosyltransferase family 301 member D1 | |
| 35137 | Ugt36F1 | UDP-glycosyltransferase family 36 member F1 | |
| 35138 | Ugt36D1 | UDP-glycosyltransferase family 36 member D1 | |
| 35139 | Ugt36E1 | UDP-glycosyltransferase family 36 member E1 | |
| 37420 | Ugt49B1 | UDP-glycosyltransferase family 49 member B1 | |
| 40079 | Ugt316A1 | UDP-glycosyltransferase family 316 member A1 | |
| 41334 | Ugt35A1 | UDP-glycosyltransferase family 35 member A1 | |
| 41573 | Ugt37A2 | UDP-glycosyltransferase family 37 member A2 | |
| 41574 | Ugt37A3 | UDP-glycosyltransferase family 37 member A3 | |
| 42538 | Ugt49B2 | UDP-glycosyltransferase family 49 member B2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001392 | Abnormality of the liver |
| HP:0001249 | Intellectual disability |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| HP:0000750 | Delayed speech and language development |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0012246 | Oculomotor nerve palsy |
| HP:0001337 | Tremor |
| HP:0000365 | Hearing impairment |
| HP:0001343 | Kernicterus |
| HP:0006579 | Prolonged neonatal jaundice |
