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 23 free, full-text research articles on human participants. First 3 results:

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
 

Author(s): Ganeswara Rao Musada, Subhadra Jalali, Anjli Hussain, Anupama Reddy Chururu, Pramod Reddy Gaddam, Subhabrata Chakrabarti, Inderjeet Kaur

Journal:

 

Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian ...

Last Updated: 24 May 2016

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Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.
 

Author(s): Seyedmehdi Payabvash, Jill S Anderson, David R Nascene

Journal: Neuroradiol J. 2015 Dec;28(6):623-7.

 

We report a case of a 7-week-old boy with bilateral leukocoria and asymmetric microphthalmia who was found to have Norrie disease. Symmetrically hyperdense globes with no evidence of calcification were seen on CT scan. The MRI showed bilateral retinal hemorrhages resulting in conical ...

Last Updated: 20 Nov 2015

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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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Reviews from the PubMed Database

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The terms "Norrie disease" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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