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Disease Profile
Wagner 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.
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Age of onset
Childhood
ICD-10
H35.5
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)
Wagner syndrome type 1; Wagner vitreoretinal degeneration; Hyaloideoretinal degeneration of Wagner;
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Wagner
Symptoms
- Early
cataracts (before age 40) - Degeneration and atrophy of the retina, the underlying retinal pigment epithelium (RPE), and the choroid
- Retinal detachment
- Nearsightedness (myopia)
- Night blindness
- Visual field restriction
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Exudative vitreoretinopathy | 0030490 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
Chorioretinal atrophy | 0000533 | |
0000501 | ||
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Optic atrophy | 0000648 | |
Optically empty vitreous | 0030663 | |
Peripheral tractional retinal detachment | 0007643 | |
Retinal pigment epithelial atrophy | 0007722 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
Vitreoretinopathy | 0007773 |
Cause
VCAN gene mutations that cause Wagner syndrome are thought to lead to insufficient levels of versican in the vitreous and structural instability. This lack of stability in the vitreous affects other areas of the eye and contributes to the vision problems that occur in people with Wagner syndrome.[1]
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
More information about the management of Wagner syndrome can be found through the Wagner Syndrome Website.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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Differential diagnosis includes Stickler syndrome, Goldmann-Favre disease, Familial Exudative Vitreoretinopahy, and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: [email protected]
Website: https://www.preventblindness.org/ -
Wagner Syndrome Website
PO Box 501
5000 AM
Tilburg
Netherlands
Telephone: +31 [0] 654 378 368
E-mail: [email protected]
Website: https://www.wagnersyndrome.eu/
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
- Genetics Home Reference (GHR) contains information on Wagner syndrome. This website is maintained by the National Library of Medicine.
- The Wagner Syndrome Website offers information on Wagner syndrome.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Wagner syndrome. Click on the link to view a sample search on this topic.
References
- Wagner syndrome. Genetics Home Reference. July 2014; https://ghr.nlm.nih.gov/condition/wagner-syndrome.
- Kloeckener-Gruissem B, Amstutz C. VCAN-Related Vitreoretinopathy. GeneReviews. January 7, 2016; https://www.ncbi.nlm.nih.gov/books/NBK3821/.
- Amstutz C. Wagner disease. Orphanet. July 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=898.
- Wagner Syndrome. Wagner Syndrome Website. February 25, 2010; https://www.wagnersyndrome.eu/wagnersyndrome/wagner.html.
- VCAN. Genetics Home Reference (GHR). 2009; https://ghr.nlm.nih.gov/gene=vcan. Accessed 12/7/2009.
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