Crigler-Najjar syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0002408
hereditary hyperbilirubinemia
is_a
Crigler Najjar Syndrome
exact
Crigler-Najjar syndrome
exact
UGT deficiency
exact
bilirubin UDP glucuronyl transferase deficiency
exact
bilirubin uridinediphosphate glucuronosyltransferase deficiency
exact
bilirubin-UGT deficiency
exact
hereditary unconjugated hyperbilirubinemia
exact