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Wolcott-Rallison syndrome

MIM.226980 2p12

Monday 5 December 2005

Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. Wolcott-Rallison syndrome is caused by mutation in the EIF2AK3 gene (MIM.604032), which encodes translation initiation factor 2-alpha kinase-3.

Synopsis

- hepatic failure
- abnormal pancreatic histology
- anomalies of the central nervous system

- anomalies of the cardio-respiratory system

  • pulmonary hypoplasia
  • enlarged heart
  • mitral valve dysplasia
  • mitral valve stenosis
  • left atrial dilatation
  • left ventricular hypertrophy
  • endocardial fibroelastosis

- recurrent episodes of self-limiting hepatic failure

- pancreati anomalies

  • severe pancreatic hypoplasia
  • neonatal diabetes mellitus

- laryngeal stenosis
- isolated central hypothyroidism (#12210348#)

- epiphyseal dysplasia
- central nervous system

  • arrhinencephaly
  • cerebellar cortical dysplasia
  • mental retardation

Etiology

- germline mutation in the EIF2AK3 gene (MIM.604032), encoding translation initiation factor 2-alpha kinase-3.

Associations

- deletion at 15q11-12 (#8737981#)

See also

- RNA translation

  • translation diseases

- endoplasmic reticulum

  • endoplasmic reticulum stress

References

- Thornton CM, Carson DJ, Stewart FJ. Autopsy findings in the Wolcott-Rallison syndrome. Pediatr Pathol Lab Med. 1997 May-Jun;17(3):487-96. PMID: #9185226#

- Stewart FJ, Carson DJ, Thomas PS, Humphreys M, Thornton C, Nevin NC. Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. Clin Genet. 1996 Mar;49(3):152-5. PMID: #8737981#

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