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Crigler-Najjar syndrome

MONDO:0009044

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

Also known as: Crigler Najjar Syndrome, Crigler-Najjar syndrome, UGT deficiency, bilirubin UDP glucuronyl transferase deficiency, bilirubin uridinediphosphate glucuronosyltransferase deficiency, bilirubin-UGT deficiency, hereditary unconjugated hyperbilirubinemia

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

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Sub-types

Crigler-Najjar syndrome type 1 (0) Crigler-Najjar syndrome type 2 (0)

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) Disease by body system or component (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5
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