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GENATLAS PHENOTYPE
last update : 27-08-2012
Symbol WRS
Location 2p12
Name Wolcott-Rallison syndrome
Other name(s) epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Corresponding gene EIF2AK3
Main clinical features
  • diabetes, epiphyseal dysplasia, osteoporosis, and growth retardation (PMID: 22028037))
  • neonatal or early insulin dependent diabetes, multiple epiphyseal dysplasia, osteoporosis, developmental delay, renal / hepatic impairment and growth retardation
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein  
    deletion   truncated protein 4-base pair deletion (nt 3021-3024 del GAGA) in exon 13, resulting in a frameshift and premature stop codon, causing premature truncation of the protein and abolition of the carboxy-segment of the catalytic domain
    Remark(s)