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Crigler-Najjar syndrome

Disease Summary
Associated Targets (9)
Tbio

7

Tchem

1

Tdark

1


Explore Associated Targets
Mondo Description Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
Disease Ontology Description 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).
Mondo Term and Equivalent IDs
MONDO:0009044:  Crigler-Najjar syndrome
ICD10:E80.5: 
MESH:D003414: 
NCIT:C84656: 
Orphanet:205: 
SCTID:28259009: 
UMLS:C0010324: 
UMLS:CN119421: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)