Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Wolcott-Rallison syndrome
Introduction
Overview
Overview
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
References
- ↑ Søvik O, Njølstad PR, Jellum E, Molven A (2008). “Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome”. J. Inherit. Metab. Dis. doi:10.1007/s10545-008-0866-1. ISBN 54500808661 Check
|isbn=value: length (help). PMID 18500571. Text “Template:Please check ISBN ” ignored (help); Unknown parameter|month=ignored (help) - ↑ Durocher F, Faure R, Labrie Y, Pelletier L, Bouchard I, Laframboise R (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. Unknown parameter
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]