Crigler-Najjar syndrome type 1

MONDO:0021020

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

Also known as: Crigler-Najjar syndrome, type 1, Crigler-Najjar syndrome, type I, UGT deficiency type 1, bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1, bilirubin-UGT deficiency type 1, hereditary unconjugated hyperbilirubinemia type 1, hyperbilirubinemia, Crigler-Najjar type 1, Crigler Najjar syndrome, type 1

24 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Syndromic disease (24) Hyperbilirubinemia (23) Human disease (14) Disease of genetic or genomic mechanism (2) Bilirubin metabolism disease (0) Crigler-Najjar syndrome (0)

Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5

Crigler-Najjar syndrome type 1

Broader categories

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