Waardenburg syndrome type 1

Common Name(s)

Waardenburg syndrome type 1

Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin.  Mutations in the PAX3 gene cause the symptoms observed in this condition.  Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Waardenburg syndrome type 1" 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 "Waardenburg syndrome type 1" returned 5 free, full-text research articles on human participants. First 3 results:

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
 

Author(s): Filiz Hazan, A Taylan Ozturk, Hamit Adibelli, Nurettin Unal, Ajlan Tukun

Journal: Mol. Vis.. 2013 ;19():196-202.

 

Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1).

Last Updated: 4 Feb 2013

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Waardenburg Syndrome type 1: A case report.
 

Author(s): Gulsen Tukenmez Demirci, Guldehan Atıs, Ilknur Kıvanc Altunay

Journal:

 

Waardenburg Syndrome (WS) is a rare hereditary disorder that is characterized by the clinical manifestations of oculocutaneous anomalies of pigmentation, congenital deafness, dystopia canthorum, and broad nasal root. It demonstrates both genetically and clinically heterogenous characteristics. ...

Last Updated: 5 Dec 2011

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PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
 

Author(s): Juan Wang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang

Journal:

 

To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1).

Last Updated: 28 Jul 2010

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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 "Waardenburg syndrome type 1" returned 1 free, full-text review articles on human participants. First 3 results:

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
 

Author(s): R Morell, T B Friedman, J H Asher, L G Robbins

Journal: J. Med. Genet.. 1997 Jun;34(6):447-52.

 

Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterised by pigmentary anomalies and various defects of neural crest derived tissues. It accounts for over 2% of congenital deafness. WS shows high variability in expressivity within families and differences ...

Last Updated: 22 Aug 1997

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.