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Other Names for this Disease
- Diabetes insipidus and mellitus with optic atrophy and deafness
- DIDMOAD syndrome
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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. Mutations in two genes have been associated with Wolfram syndrome. The majority of cases are associated with mutations in the WFS1 gene. Mutations in the CISD2 gene have been identified in three consanguineous families of Jordanian descent. The condition is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.Wolfram syndrome, which is also known by the acronym DIDMOAD, is characterized by
Last updated: 9/8/2011
- WFS1. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene/WFS1. Accessed 9/7/2011.
- Martinez VN. Wolfram syndrome. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3463. Accessed 9/7/2011.
- Wolfram Syndrome 2. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/604928. Accessed 9/7/2011.
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- Genetics Home Reference (GHR) contains information on Wolfram syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Wolfram syndrome. Click on the link to view a sample search on this topic.