Papillorenal syndrome

Common Name(s)

Papillorenal syndrome, Renal coloboma syndrome

Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss.  The syndrome has an autosomal dominant pattern of inheritance and can be caused by mutations in the PAX2 gene. In about half of cases, the underlying cause can not be determined.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Papillorenal 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 "Papillorenal syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
 

Author(s): Matthew Bower, Michael Eccles, Laurence Heidet, Lisa A Schimmenti

Journal: Eur. J. Hum. Genet.. 2011 Sep;19(9):.

 

Last Updated: 18 Aug 2011

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Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
 

Author(s): Ramakrishna P Alur, Camasamudram Vijayasarathy, Jacob D Brown, Mohit Mehtani, Ighovie F Onojafe, Yuri V Sergeev, Elangovan Boobalan, Marypat Jones, Ke Tang, Haiquan Liu, Chun-Hong Xia, Xiaohua Gong, Brian P Brooks

Journal:

 

Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor ...

Last Updated: 11 Mar 2010

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Reviews from the PubMed Database

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The terms "Papillorenal 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

There are currently no open clinical trials for this condition.