National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

WAGR syndrome

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Other Names:
Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome; WAGR Complex; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome; Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome; WAGR Complex; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome; Chromosome 11p deletion syndrome; 11p deletion syndrome; AGR triad; Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome See More
Categories:
This disease is grouped under:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 30 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aniridia
Absent iris
0000526
Aplasia/Hypoplasia of the iris
Absent/small iris
Absent/underdeveloped iris
[ more ] 		0008053
30%-79% of people have these symptoms
Abnormal vagina morphology 0000142
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cryptorchidism
Undescended testis
Undescended testes
[ more ] 		0000028
Displacement of the urethral meatus 0100627
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Hearing abnormality
Abnormal hearing
0000364
Hypospadias 0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental-retardation
Mental retardation, nonspecific
[ more ] 		0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Nephroblastoma 0002667
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ptosis
Drooping upper eyelid
0000508
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Streak ovary 0010464
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Abnormality of the uterus
Uterine abnormalities
Uterine malformations
[ more ] 		0000130
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] 		0000062
Dysfunction of lateral corticospinal tracts 0007299
Glaucoma 0000501
Gonadoblastoma 0000150
Obesity
Having too much body fat
0001513
Scoliosis 0002650
1%-4% of people have these symptoms
Nephropathy 0000112
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Contiguous gene syndrome 0001466
Somatic mutation 0001428
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

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

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with WAGR syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for WAGR syndrome:
    The CoRDS/IWSA Patient Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.
  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles on this topic from the perspective of Aniridia and Wilms tumor. These articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.