Crigler-Najjar syndrome type 2

Disease Export to PDF
Name:
Crigler-Najjar syndrome type 2
Description:
A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.
ORPHAcode:
79235
Synonyms:
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Bilirubin-UGT deficiency type 2
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14