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Diseases

Genetic and Rare Diseases Information Center (GARD)

WAGR syndrome


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

WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.[1] WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental delays.[1][2][3] A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.[1][3] The syndrome is caused by a deletion of genetic material on the short (p) arm 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. Treatment of WAGR syndrome is aimed at addressing the specific symptoms that are present in each individual.[1]
Last updated: 7/11/2016

References

  1. Trout K. WAGR Syndrome/11p Deletion Syndrome. National Organization for Rare Disorders (NORD). 2010; http://rarediseases.org/rare-diseases/wagr-syndrome11p-deletion-syndrome/.
  2. WAGR syndrome. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893.
  3. Trout K. What is WAGR syndrome?. INternational WAGR Syndrome Association. May 2015; http://wagr.org/?page_id=3492.
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Basic Information

  • Genetics Home Reference (GHR) contains information on WAGR syndrome. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome
  • WAGR Complex
  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
  • Chromosome 11p deletion syndrome
  • 11p deletion syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.