Cataract Congenital Autosomal Dominant

Common Name(s)

Cataract Congenital Autosomal Dominant

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cataract Congenital Autosomal Dominant" for support, advocacy or research.

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cataract Congenital Autosomal Dominant" 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 "Cataract Congenital Autosomal Dominant" returned 43 free, full-text research articles on human participants. First 3 results:

A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
 

Author(s): Han Wang, Tianxiao Zhang, Di Wu, Jinsong Zhang

Journal:

 

To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract.

Last Updated: 31 Dec 2013

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A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
 

Author(s): Dingan Zhou, Hongyun Ji, Zhiyun Wei, Luo Guo, Yanpeng Li, Teng Wang, Yu Zhu, Xingran Dong, Yang Wang, Lin He, Qinghe Xing, Lirong Zhang

Journal:

 

To identify the genetic defect associated with autosomal dominant congenital cataract (ADCC) in a Chinese family, in which 11 individuals across four generations are affected with coralliform cataract.

Last Updated: 17 Apr 2013

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An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
 

Author(s): G Senthil Kumar, John W Kyle, Peter J Minogue, K Dinesh Kumar, K Vasantha, Viviana M Berthoud, Eric C Beyer, S T Santhiya

Journal: Exp. Eye Res.. 2013 May;110():136-41.

 

Autosomal dominant congenital cataracts have been associated with mutations of genes encoding several soluble and membrane proteins. By candidate gene screening, we identified a novel mutation in MIP (c.494 G > A) that segregates with a congenital lamellar cataract within a south ...

Last Updated: 23 Apr 2013

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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 "Cataract Congenital Autosomal Dominant" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.