Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 01-12-2017
Symbol WFS2
Location 4q24
HGNC id 12763
Name Wolfram syndrome 2
Other name(s) diabetes insipidus, diabetes mellitus, optic atrophy, and deafness 2
Corresponding gene CISD2
Other symbol(s) DIDMOAD2
Main clinical features
  • progressive neurodegenerative disorder
  • associated with/without diabetes insipidus, upper gastrointestinal peptic ulcerations and bleeding, non autoimmune insulin dependent diabetes mellitus (deafness, renal-tract abnormalities, late ataxia and myoclonus)
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein disrupt messenger RNA splicing by eliminating exon 2, and it results in the introduction of a premature stop codon
    Remark(s) . CISD2 deficiency impairs the activation of Wnt/CTNNB1 signaling and thereby contributes to the pathogeneses of osteopenia and lordokyphosis in WFS2 patients (PMID: 26230298))