Wolfram syndrome 2

Common Name(s)

Wolfram syndrome 2

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolfram syndrome 2" 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 2" returned 4 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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[An evaluation of HLA class 2 alleles and anti-islet antibodies as evidence for non-autoimmune diabetes in Wolfram syndrome].
 

Author(s): Agnieszka Zmysłowska, Maciej Borowiec, Karolina Antosik, Krystyna Wyka, Agnieszka Cieślik-Heinrich, Izabela Klich, Wojciech Młynarski

Journal: Pediatr Endocrinol Diabetes Metab. 2010 ;16(4):233-7.

 

A clinical criterion of the Wolfram syndrome is the coexistence of diabetes and optic atrophy recognized before the age of 15. Diabetes present in Wolfram syndrome is a result of the selective β cell loss and failed insulin secretion which is probably associated with non-autoimmune pathogenesis.

Last Updated: 30 Mar 2011

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Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2.
 

Author(s): Andrea R Conlan, Herbert L Axelrod, Aina E Cohen, Edward C Abresch, John Zuris, David Yee, Rachel Nechushtai, Patricia A Jennings, Mark L Paddock

Journal: J. Mol. Biol.. 2009 Sep;392(1):143-53.

 

The endoplasmic reticulum protein Miner1 is essential for health and longevity. Mis-splicing of CISD2, which codes for Miner1, is causative in Wolfram Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased lifespan. In knock-out studies, ...

Last Updated: 28 Aug 2009

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Reviews from the PubMed Database

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The terms "Wolfram syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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