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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22309 | UDP-glucuronosyltransferase 1A1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q64550 | UDP-glucuronosyltransferase 1A1 |
- 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 |
