Crigler-Najjar syndrome type 1

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Crigler-Najjar syndrome type 1

Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 | Bilirubin-UGT deficiency type 1

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Crigler-Najjar syndrome type 1?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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