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WAGR syndrome

Other Names for this Disease
  • 11p deletion syndrome
  • Chromosome 11p deletion syndrome
  • WAGR Complex
  • Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome
  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
More Names
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Overview


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). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=WAGR%20Syndrome. Accessed March 11, 2009.
  2. WAGR syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893. Accessed March 11, 2009.
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On this page

General Information

  • Genetics Home Reference (GHR) contains information on WAGR syndrome. Click on the link to go to GHR and review the information.
  • Medscape Reference 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 Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • 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.
  • Orphanet is a European reference portal for 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 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.

Insurance Issues

  • 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.
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