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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Wolfram syndrome


Other Names for this Disease

  • Diabetes insipidus and mellitus with optic atrophy and deafness
  • DIDMOAD
  • DIDMOAD syndrome
  • WFS
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Tests & Diagnosis

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How is Wolfram syndrome diagnosed?

A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis.[1][2]
Last updated: 12/8/2014

Is genetic testing available for Wolfram syndrome?

Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively.[3][4] Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 12/8/2014

References
  1. Tranebjærg L, Barrett T & Rendtorff ND. WFS1-Related Disorders. Gene Reviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK4144/. Accessed 1/21/2014.
  2. Wolfram Syndrome. NORD. May 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/850/viewFullReport.
  3. Wolfram syndrome. Genetics Home Reference. 2012; http://ghr.nlm.nih.gov/condition/wolfram-syndrome. Accessed 1/21/2014.
  4. Wolfram Syndrome 2. OMIM. September 2014; http://omim.org/entry/604928.


Other Names for this Disease
  • Diabetes insipidus and mellitus with optic atrophy and deafness
  • DIDMOAD
  • DIDMOAD syndrome
  • WFS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.