Crigler-Najjar syndrome type 1

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Name:
Crigler-Najjar syndrome type 1
Description:
A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.
ORPHAcode:
79234
Synonyms:
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Bilirubin-UGT deficiency type 1
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14