Crigler-Najjar syndrome


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Related to Crigler-Najjar syndrome: Dubin Johnson syndrome

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-Najjar syndrome 1

A severe autosomal recessive form (OMIM:218800) of hyperbilirubinaemia affecting infants, who usually die with kern icterus in the first year of life.

Crig·ler-Naj·jar syn·drome

(krig'lĕr nah'jahr sin'drōm)
A 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.

Crigler-Najjar syndrome

Type I is a rare autosomal recessive disorder causing absence of an enzyme (glucuronyl transferase) essential for normal liver function. Affected new-born babies have high levels of BILIRUBIN in the blood with bilirubin staining of the basal ganglia of the brain. Mortality is high. Type II is a rare autosomal dominant, and much milder form of the disorder in which there is only a partial deficiency of the enzyme. Most survive. (John F. Crigler, American paediatrician, b. 1919 and Lebanese-born American molecular biologist and paediatrician Victor Assar Najjar, b. 1914).

Crigler-Najjar syndrome

A moderate to severe form of hereditary jaundice.
Mentioned in: Jaundice

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

Arias,

Irwin Monroe, U.S. physician, 1926–.
Arias syndrome - Synonym(s): Crigler-Najjar syndrome

Najjar,

Victor A., U.S. physician and biochemist, 1914–.
Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndrome
Crigler-Najjar syndrome - see under Crigler
References in periodicals archive ?
Some rare mutations in the coding region ofthe gene are responsible for the severe childhood form of hyperbilirubinemia, Crigler-Najjar syndrome type I and II, characterized by absent or very low UGT1A1 activity (37-39).
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.
Defects in this enzyme can cause a nonhemolytic unconjugated hyperbilirubinemia, such as Crigler-Najjar syndrome type 1 (CN1) and 2 (CN2) and Gilbert syndrome (GS).
Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II.
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.