loading...| Preferred Name |
obsolete_Crigler-Najjar syndrome |
|
| Synonyms |
Hereditary unconjugated hyperbilirubinemia Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency UGT deficiency |
|
| Definitions |
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 (see these terms). 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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_205 |
|
| Obsolete |
true |
|
| database_cross_reference |
ICD10:E80.5 UMLS:C0010324 MeSH:D003414 OMIM:218800 MedDRA:10011386 OMIM:606785 |
|
| definition |
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 (see these terms). 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. |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
UGT deficiency Bilirubin-UGT deficiency Bilirubin uridinediphosphate glucuronosyltransferase deficiency Hereditary unconjugated hyperbilirubinemia |
|
| label |
obsolete_Crigler-Najjar syndrome |
|
| obsoleted_in_version |
3.41.0 |
|
| prefLabel |
obsolete_Crigler-Najjar syndrome |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_205 | ORDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0016084 | MONDO | LOOM |