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Disease Profile
WAGR syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Neonatal
ICD-10
C64
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
WAGR Complex; Chromosome 11p deletion syndrome; 11p deletion syndrome;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
WAGR
Symptoms
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.
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 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ 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 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Nephroblastoma | 0002667 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Drooping upper eyelid
|
0000508 | |
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 | |
0000501 | ||
Gonadoblastoma | 0000150 | |
Obesity |
Having too much body fat
|
0001513 |
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 | ||
0000006 | ||
0001466 | ||
0001428 |
Organizations
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
-
Aniridia Foundation International (AFI)
PO Box 41
Manitowish Waters, WI 54545
Telephone: 901-409-1600
Website: https://www.make-a-miracle.org/ -
International WAGR Syndrome Association
PO Box 2875
Montgomery Village, MD 20886
E-mail: [email protected]
Website: https://www.wagr.org
Learn more
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
- MedlinePlus Genetics 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.
References
- Trout K. WAGR Syndrome/11p Deletion Syndrome. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/wagr-syndrome11p-deletion-syndrome/.
- WAGR syndrome. Orphanet. March 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893.
- Trout K. What is WAGR syndrome?. INternational WAGR Syndrome Association. May 2015; https://wagr.org/?page_id=3492.