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 entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
7355 SLC35A2 solute carrier family 35 member A2
54575 UGT1A10 UDP glucuronosyltransferase family 1 member A10
54576 UGT1A8 UDP glucuronosyltransferase family 1 member A8
54577 UGT1A7 UDP glucuronosyltransferase family 1 member A7
54578 UGT1A6 UDP glucuronosyltransferase family 1 member A6
54579 UGT1A5 UDP glucuronosyltransferase family 1 member A5
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54659 UGT1A3 UDP glucuronosyltransferase family 1 member A3
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 11 - 20 of 20 in total
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
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024