You are using an outdated browser. Please upgrade your browser to improve your experience.
Crigler-Najjar syndrome
Disease Summary
Associated Targets (9)
Tbio
8
Tchem
1
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).
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:3803
ICD10:E80.5
MESH:D003414
NCIT:C84656
Orphanet:205
SCTID:28259009
UMLS:C0010324
UMLS:CN119421
MONDO:0009044
High level summary of knowledge for a disease, including descriptions and datasource references.