Wolcott-Rallison syndrome

Wolcott-Rallison syndrome
Classification and external resources
OMIM 226980

Wolcott-Rallison syndrome abbreviated as WRS is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2-alpha kinase 3.[1] [2]

References

  1. ^ Søvik O, Njølstad PR, Jellum E, Molven A (May 2008). "Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome". J. Inherit. Metab. Dis.. doi:10.1007/s10545-008-0866-1. ISBN 1054500808661. PMID 18500571. 
  2. ^ Durocher F, Faure R, Labrie Y, Pelletier L, Bouchard I, Laframboise R (July 2006). "A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome". Clin. Genet. 70 (1): 34–8. doi:10.1111/j.1399-0004.2006.00632.x. PMID 16813601. http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2006&volume=70&issue=1&spage=34.