Wolfram syndrome

Common Name(s)

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.  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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolfram syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wolfram syndrome" returned 48 free, full-text research articles on human participants. First 3 results:

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
 

Author(s): Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D'Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese

Journal:

 

Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinical phenotype of WFS2 differs from WFS1 for the absence of diabetes insipidus ...

Last Updated: 8 Aug 2014

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Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease.
 

Author(s): Fumihiko Urano

Journal: Diabetes. 2014 Mar;63(3):844-6.

 

Last Updated: 21 Feb 2014

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β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.
 

Author(s): Linshan Shang, Haiqing Hua, Kylie Foo, Hector Martinez, Kazuhisa Watanabe, Matthew Zimmer, David J Kahler, Matthew Freeby, Wendy Chung, Charles LeDuc, Robin Goland, Rudolph L Leibel, Dieter Egli

Journal: Diabetes. 2014 Mar;63(3):923-33.

 

Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing ...

Last Updated: 21 Feb 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wolfram syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

[Wolfram syndrome: from definition to molecular bases].
 

Author(s): Maria Regina F Ribeiro, Felipe Crispim, Márcio F Vendramini, Regina S Moisés

Journal: Arq Bras Endocrinol Metabol. 2006 Oct;50(5):839-44.

 

Wolfram syndrome (WS) is an autosomal recessive progressive neurodegenerative disorder characterized by diabetes mellitus and optic atrophy. Diabetes insipidus and sensorineural deafness are also noted frequently, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, ...

Last Updated: 12 Dec 2006

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Wolfram (DIDMOAD) syndrome.
 

Author(s): T G Barrett, S E Bundey

Journal: J. Med. Genet.. 1997 Oct;34(10):838-41.

 

Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, ...

Last Updated: 9 Dec 1997

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Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
 

Author(s): D Pilz, O W Quarrell, E W Jones

Journal: J. Med. Genet.. 1994 Apr;31(4):328-30.

 

DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand ...

Last Updated: 29 Sep 1994

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

GLP Analogs for Diabetes in Wolfram Syndrome Patients
 

Status: Not yet recruiting

Condition Summary: Diabetes Mellitus Associated With Genetic Syndrome; Wolfram Syndrome

 

Last Updated: 23 Feb 2011

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