Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Wolcott-Rallison-Syndrom

Das Wolcott-Rallison-Syndrom ist eine autosomal rezessive Errkankung, die durch Mutationen im EIF2AK3-Gen ausgelöst wird. Neben einem frühzeitig auftretenden Diabetes melitus ist sie durch epiphyseale Dysplasie gekennzeichnet.

Gliederung

Permanenter neonataler Diabetes mellitus
ABCC8
DEND-Syndrom
GCK
INS
KCNJ11
Phosphoribosylpyrophosphat-Synthetase-Überaktivität
Wolcott-Rallison-Syndrom
EIF2AK3

Referenzen:

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 [^]
Update: 29. April 2019