WAGR syndrome

Common Name(s)

WAGR syndrome, Chromosome 11, Deletion 11p

WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome.  A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.  The syndrome is due to a microdeletion in the 11p13 region of chromosome 11.  In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "WAGR syndrome" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

Last Updated: 12 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "WAGR syndrome" for support, advocacy or research.

International WAGR Syndrome Association

Our mission is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.

http://www.wagr.org

Last Updated: 12 Dec 2012

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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 "WAGR syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
 

Author(s): Joan C Han, Audrey Thurm, Christine Golden Williams, Lisa A Joseph, Wadih M Zein, Brian P Brooks, John A Butman, Sheila M Brady, Shannon R Fuhr, Melanie D Hicks, Amanda E Huey, Alyson E Hanish, Kristen M Danley, Margarita J Raygada, Owen M Rennert, Keri Martinowich, Stephen J Sharp, Jack W Tsao, Susan E Swedo

Journal: Cortex. ;49(10):2700-10.

 

In animal studies, brain-derived neurotrophic factor (BDNF) is an important regulator of central nervous system development and synaptic plasticity. WAGR (Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation) syndrome is caused by 11p13 deletions of variable size ...

Last Updated: 9 Dec 2013

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Clinical utility gene card for: WAGR syndrome.
 

Author(s): Carol Clericuzio, Melanie Hingorani, John A Crolla, Veronica van Heyningen, Alain Verloes

Journal: Eur. J. Hum. Genet.. 2011 Apr;19(4):.

 

Last Updated: 17 Mar 2011

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Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome.
 

Author(s): Richa Tyagi, Avinash R Shenoy, Sandhya S Visweswariah

Journal: J. Biol. Chem.. 2009 Feb;284(8):5217-28.

 

Among the human diseases that result from chromosomal aberrations, a de novo deletion in chromosome 11p13 is clinically associated with a syndrome characterized by Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR). Not all genes in the deleted region have ...

Last Updated: 16 Feb 2009

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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 "WAGR 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

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
 

Status: Recruiting

Condition Summary: WAGR Syndrome; Wilm's Tumor; Aniridia; Urogenital Abnormalities; Mental Retardation

 

Last Updated: 11 Nov 2014

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