Crigler-Najjar syndrome type 2

Get in touch with RARE Concierge.

Contact RARE Concierge

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: //www.orphadata.org. Data version September 2023.

Newly diagnosed with
Crigler-Najjar syndrome type 2?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.