Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0000365 | Hearing impairment |
| HP:0000750 | Delayed speech and language development |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0001249 | Intellectual disability |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0002354 | Memory impairment |
| HP:0012246 | Oculomotor nerve palsy |
| HP:0001392 | Abnormality of the liver |
| HP:0001337 | Tremor |
| HP:0001080 | Biliary tract abnormality |
