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
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
56886 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
394436 Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24861 Ugt1a1 UDP glucuronosyltransferase family 1 member A1
Displaying entries 1 - 10 of 20 in total
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
Displaying all 2 entries
Gene ID Gene Symbol Description Source
406731 ugt1ab UDP glucuronosyltransferase 1 family a, b
100384891 ugt1a7 UDP glucuronosyltransferase 1 family, polypeptide A7
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100135191 ugt1a6 UDP glucuronosyltransferase 1 family, polypeptide A6 Xenopus tropicalis (tropical clawed frog)
100489505 ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 Xenopus tropicalis (tropical clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
175591 ugt-62 UDP-glucuronosyltransferase
185500 ugt-61 UDP-glucuronosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
850886 ATG26 sterol 3-beta-glucosyltransferase
The Human Phenotype Ontology
Displaying entries 11 - 19 of 19 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1

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Last updated: August 19, 2024