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GENATLAS PHENOTYPE

last update : 1/09/2006

Symbol	CNS1
Location	2q37.1
Name	Crigler-Najjar syndrome 1
Corresponding gene	UGT1A1
Main clinical features	severe chronic non conjugated hyperbilirubinemia with complete absence of bilirubin UDP-glucuronosyltransferase intense jaundice appears in the first days of life and persists thereafterand some affected infants die in the first weeks or months of life with kernicterus
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Gene product

Name	UDP glucuronosyltransferase 1, liver, bilirubin (UGT1A1)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	uniparental disomy		paternal isodisomy

Remark(s)