Nance-Horan syndrome

Common Name(s)

Nance-Horan syndrome

Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with additional physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nance-Horan syndrome" 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 "Nance-Horan syndrome" returned 13 free, full-text research articles on human participants. First 3 results:

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
 

Author(s): Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin, Qian Pan

Journal:

 

Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations ...

Last Updated: 7 Jan 2017

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Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
 

Author(s): Nan Hong, Yan-hua Chen, Chen Xie, Bai-sheng Xu, Hui Huang, Xin Li, Yue-qing Yang, Ying-ping Huang, Jian-lian Deng, Ming Qi, Yang-shun Gu

Journal: J Zhejiang Univ Sci B. 2014 Aug;15(8):727-34.

 

Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical ...

Last Updated: 5 Aug 2014

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The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
 

Author(s): Simon P Brooks, Margherita Coccia, Hao R Tang, Naheed Kanuga, Laura M Machesky, Maryse Bailly, Michael E Cheetham, Alison J Hardcastle

Journal: Hum. Mol. Genet.. 2010 Jun;19(12):2421-32.

 

Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as ...

Last Updated: 27 May 2010

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Reviews from the PubMed Database

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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