Wolfram syndrome 2

Common Name(s)

Wolfram syndrome 2

Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by {4:Mozzillo et al., 2014}). For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 ({222300}).
 

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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 3 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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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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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
 

Author(s): Sami Amr, Cindy Heisey, Min Zhang, Xia-Juan Xia, Kathryn H Shows, Kamel Ajlouni, Arti Pandya, Leslie S Satin, Hatem El-Shanti, Rita Shiang

Journal: Am. J. Hum. Genet.. 2007 Oct;81(4):673-83.

 

A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to ...

Last Updated: 11 Sep 2007

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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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