loading...| Preferred Name |
Crigler-Najjar syndrome |
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| Synonyms |
Crigler Najjar syndrome Crigler-Najjar syndrome bilirubin UDP glucuronyl transferase deficiency bilirubin-UGT deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency hereditary unconjugated hyperbilirubinemia UGT deficiency |
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| 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. 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009044 |
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| has characteristic | ||
| has_exact_synonym |
Crigler Najjar syndrome Crigler-Najjar syndrome bilirubin UDP glucuronyl transferase deficiency bilirubin-UGT deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency hereditary unconjugated hyperbilirubinemia UGT deficiency |
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| label |
Crigler-Najjar syndrome |
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| prefixIRI |
MONDO:0009044 |
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| prefLabel |
Crigler-Najjar syndrome |
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| textual 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. 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. |
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| subClassOf |