Crigler-Najjar disease


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Related to Crigler-Najjar disease: Arias syndrome

Crigler-Najjar disease (syndrome)

 [krig´ler naj´er]
a congenital hereditary non-hemolytic jaundice due to absence of the hepatic enzyme glucuronide transferase, marked by excessive amounts of unconjugated bilirubin in the blood, kernicterus, and severe central nervous system disorders.

Crig·ler-Naj·jar syn·drome

(krig'lĕr nah'jahr), [MIM*218800]
a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal; autosomal recessive inheritance, caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1) on chromosome 1q. There is an autosomal dominant form called Gilbert syndrome, also caused by mutation in the UGT1 gene.

Crigler,

John F., U.S. physician, 1919–.
Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndrome
Crigler-Najjar syndrome - a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase. Synonym(s): Arias syndrome; Crigler-Najjar disease

Najjar,

Victor A., U.S. physician and biochemist, 1914–.
Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndrome
Crigler-Najjar syndrome - see under Crigler