Crigler-Najjar syndrome type 2

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Crigler-Najjar syndrome type 2

Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 | Bilirubin-UGT deficiency type 2

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.

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 http: // Data version September 2023.

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Crigler-Najjar syndrome type 2?

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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

For a list of clinical trials in this disease area, please click here.