Crigler-Najjar syndrome type 1
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
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|