Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Wolcott-Rallison syndrome

Wolcott-Rallison syndrome is an autosomal recessive disorder caused ba mutations of the EIF2AK3 gene. It ic characterized by early onset diabetes mellitus and multiple epiphyseal dysplasia.

Systematic

Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
Wolcott-Rallison syndrome
EIF2AK3

References:

1.

al-Gazali LI et al. (1995) Wolcott-Rallison syndrome.

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2.

Delépine M et al. (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

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3.

Brickwood S et al. (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

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4.

Durocher F et al. (2006) A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

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5.

Wolcott CD et al. (1972) Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia.

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6.

Stöss H et al. (1982) Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

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7.

Stewart FJ et al. (1996) Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.

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8.

Bonthron DT et al. (1998) Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.

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9.

Bin-Abbas B et al. (2002) Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

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10.

Bin-Abbas B et al. () Wolcott-Rallison syndrome: clinical, radiological and histological findings in a Saudi child.

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11.

Orphanet article

Orphanet ID 1667 [^]
12.

OMIM.ORG article

Omim 226980 [^]
13.

Wikipedia article

Wikipedia EN (Wolcott–Rallison_syndrome) [^]
Update: April 29, 2019