Norrie disease

Common Name(s)

Norrie disease, Atrophia bulborum hereditaria

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Some affected individuals may develop hearing loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues. Mutations in the NDP gene cause Norrie disease. It is inherited in an X-linked recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Norrie disease" for support, advocacy or research.

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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 "Norrie disease" returned 22 free, full-text research articles on human participants. First 3 results:

Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.
 

Author(s): Brian McNeill, Chantal Mazerolle, Erin A Bassett, Alan J Mears, Randy Ringuette, Pamela Lagali, David J Picketts, Kim Paes, Dennis Rice, Valerie A Wallace

Journal: Hum. Mol. Genet.. 2013 Mar;22(5):1005-16.

 

Norrie disease (ND) is a congenital disorder characterized by retinal hypovascularization and cognitive delay. ND has been linked to mutations in 'Norrie Disease Protein' (Ndp), which encodes the secreted protein Norrin. Norrin functions as a secreted angiogenic factor, although its ...

Last Updated: 4 Feb 2013

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A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.
 

Author(s): S Chamney, E McLoone, C E Willoughby

Journal: Eye (Lond). 2011 Dec;25(12):1658.

 

Last Updated: 13 Dec 2011

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A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.
 

Author(s): Deyuan Liu, Zhengmao Hu, Yu Peng, Changhong Yu, Yalan Liu, Xiaoyun Mo, Xiaoping Li, Lina Lu, Xiaojuan Xu, Wei Su, Qian Pan, Kun Xia

Journal:

 

Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular ...

Last Updated: 23 Dec 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 "Norrie disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Growth Hormone for Osteoporosis Pseudoglioma Syndrome
 

Status: Not yet recruiting

Condition Summary: Osteoporosis Pseudoglioma Syndrome

 

Last Updated: 14 Jan 2013

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