Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome
  • WAGR Complex
  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
  • Chromosome 11p deletion syndrome
  • 11p deletion syndrome
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WAGR syndrome
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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.[1] 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.[1][2] A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.[1] The syndrome is due to a microdeletion in the 11p13 region of chromosome 11.[2] In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.[1]

References
  1. Trout K. WAGR Syndrome. National Organization for Rare Disorders (NORD). 2007 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=WAGR%20Syndrome. Accessed March 11, 2009.
  2. WAGR syndrome. Orphanet. March 2006 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893. Accessed March 11, 2009.

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More Detailed Information (Found 6 resources)
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  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss WAGR syndrome. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss WAGR syndrome. Click on the link to view a sample search on this topic.
    • The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for kidney cancer, a cancer associated with this condition. More information about applying for Social Security disability benefits is available online.
      Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022205
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied WAGR syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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