Wolfram syndrome

Common Name(s)

Wolfram syndrome

Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are 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.

 

 

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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 52 free, full-text research articles on human participants. First 3 results:

Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.
 

Author(s): Agnieszka Zmyslowska, Bogdan Malkowski, Wojciech Fendler, Maciej Borowiec, Karolina Antosik, Piotr Gnys, Dobromila Baranska, Wojciech Mlynarski

Journal:

 

Wolfram syndrome (WFS) is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain ...

Last Updated: 27 Dec 2014

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A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
 

Author(s): Simin Lu, Kohsuke Kanekura, Takashi Hara, Jana Mahadevan, Larry D Spears, Christine M Oslowski, Rita Martinez, Mayu Yamazaki-Inoue, Masashi Toyoda, Amber Neilson, Patrick Blanner, Cris M Brown, Clay F Semenkovich, Bess A Marshall, Tamara Hershey, Akihiro Umezawa, Peter A Greer, Fumihiko Urano

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Dec;111(49):E5292-301.

 

Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome and the identification of two causative genes, Wolfram syndrome 1 ...

Last Updated: 10 Dec 2014

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Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
 

Author(s): Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa

Journal:

 

Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the ...

Last Updated: 12 Sep 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

Tracking Neurodegeneration in Early Wolfram Syndrome
 

Status: Recruiting

Condition Summary: Type 1 Diabetes; Diabetes Insipidus; Diabetes Mellitus; Wolfram Syndrome

 

Last Updated: 22 May 2015

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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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