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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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Overview



What is Wolfram syndrome?

What are the signs and symptoms of Wolfram syndrome?


What is Wolfram syndrome?

Wolfram syndrome, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI); childhood-onset diabetes mellitus (DM); a gradual loss of vision caused by optic atrophy (OA); and deafness (D). Other complications that affect the bladder and nervous system may also occur.[1] Mutations in two genes have been associated with Wolfram syndrome.[2] The majority of cases are associated with mutations in the WFS1 gene.[1][2] Mutations in the CISD2 gene have been identified in three consanguineous families of Jordanian descent.[2][3] The condition is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.[2]
Last updated: 9/8/2011

What are the signs and symptoms of Wolfram syndrome?

Wolfram syndrome is characterized by diabetes insipidus, a condition in which the kidneys cannot conserve water; childhood-onset diabetes mellitus, which results from the improper control of glucose due to the lack of insulin; a gradual loss of vision caused by optic atrophy, in which the nerve that connects the eye to the brain wastes away; and deafness.[1] Other related problems include lack of muscle tone within the urinary tract, ataxia, peripheral neuropathy, dementia, psychiatric disorders (i.e. severe depression, psychosis, compulsive verbal and physical aggression), and/or seizures.[2]

The following complications have also been noted: [2] 
Last updated: 9/8/2011

References
  1. WFS1. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene/WFS1. Accessed 9/7/2011.
  2. Martinez VN. Wolfram syndrome. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3463. Accessed 9/7/2011.
  3. Wolfram Syndrome 2. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/604928. Accessed 9/7/2011.