Wagner syndrome

Genetic and Rare Diseases Information Center (GARD)

Wagner syndrome type 1
Wagner vitreoretinal degeneration
Hyaloideoretinal degeneration of Wagner
WGN1
Erosive vitreoretinopathy
ERVR
Wagner disease (formerly)

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Wagner syndrome
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Wagner syndrome is a hereditary eye disease characterized by a central vitreous cavity which appears empty on slit-lamp examination.^[1]^[2]^[3] The condition was named after the Swiss ophthalmologist Hans Wagner, who described a family with this condition in 1938. Since then less than 50 families have been described.^[1] The first signs usually emerge during early adolescence, but onset may be as early as age 2.^[2] Wagner syndrome is caused by mutations in the VCAN gene.^[1]^[2] It is inherited in an autosomal dominant manner.^[2]

References

Van Aerde K, Kloeckener-Gruissem B. Wagner Syndrome. Wagner Syndrome Website. 2009 Available at: http://www.wagnersyndrome.eu/wagner.html. Accessed December 7, 2009.
Kloeckener-Gruissem B, Amstutz C. VCAN-Related Vitreoretinopathy. GeneReviews. 2009 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wagner. Accessed December 7, 2009.
Edery P. Wagner disease. Orphanet. 2004 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=898. Accessed December 7, 2009.

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More Detailed Information	NLM Gateway	Services	Scientific Conferences	Support Groups	Clinical Trials & Research

General \| Management Guidelines
More Detailed Information (Found 5 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General The National Eye Institute (NEI) provides more information on this topic. You can reach them by calling 301-496-5248 or by E-mail at 2020@nei.nih.gov The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Wagner syndrome. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to 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 Wagner syndrome. Click on the link to view a sample search on this topic. Management Guidelines 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. Click on the link to view the article on this topic.

General | Management Guidelines

More Detailed Information (Found 5 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- The National Eye Institute (NEI) provides more information on this topic. You can reach them by calling 301-496-5248 or by E-mail at 2020@nei.nih.gov
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Wagner syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to 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 Wagner syndrome. Click on the link to view a sample search on this topic.
Management Guidelines
- 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. Click on the link to view the article on this topic.


NLM Gateway (Found 1 resource) A tool to search across multiple resources offered on the National Library of Medicine's Website NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

Testing \| Genetic Services \| Parent Resources
Services (Found 3 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories Testing GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Genetic Services You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community: GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics. The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Testing | Genetic Services | Parent Resources

Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

Testing
- GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Genetic Services
- You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
  - GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  - The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  - The American College of Medical Genetics has a searchable database of US genetics clinics.
  - The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
  - The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.


Scientific Conferences (Found 1 resource) Resources where you can find information on completed and upcoming scientific conferences and programs Past Conferences VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010 Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Scientific Conferences (Found 1 resource)
Resources where you can find information on completed and upcoming scientific conferences and programs

Past Conferences
- VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
  Location: Palais Rouge Convention Center, Palermo, Buenos Aires
  Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Disease-Specific Organizations \| Umbrella Organizations \| Social Media/Blogs \| Parent Matching Organizations
Support Groups (Found 9 resources) Groups providing a wide range of services, supportive resources, and information Disease-Specific Organizations Wagner Syndrome Website PO Box 501 5000 AM Tilburg, NL Phone: 00 31 13 580 14 22 Email: info@wagnersyndrome.eu Web: http://www.wagnersyndrome.eu/ Prevent Blindness America 211 West Wacker Drive, Suite 1700 Chicago, Illinois 60606 Toll-free: 1-800-331-2020 Web site: http://www.preventblindness.org/ Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Media/Blogs DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ MUMS National Parent to Parent Network 150 Custer Court Green Bay, WI 54301 Toll-free: 1-877-336-5333 Telephone: 920-336-5333 Fax: 920-339-0995 E-mail: mums@netnet.net Web site: http://www.netnet.net/mums/

Disease-Specific Organizations | Umbrella Organizations | Social Media/Blogs | Parent Matching Organizations

Support Groups (Found 9 resources)
Groups providing a wide range of services, supportive resources, and information

Disease-Specific Organizations
- Wagner Syndrome Website
  PO Box 501
  5000 AM
  Tilburg, NL
  Phone: 00 31 13 580 14 22
  Email: info@wagnersyndrome.eu
  Web: http://www.wagnersyndrome.eu/
- Prevent Blindness America
  211 West Wacker Drive, Suite 1700
  Chicago, Illinois 60606
  Toll-free: 1-800-331-2020
  Web site: http://www.preventblindness.org/
Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Media/Blogs
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- MUMS National Parent to Parent Network
  150 Custer Court
  Green Bay, WI 54301
  Toll-free: 1-877-336-5333
  Telephone: 920-336-5333
  Fax: 920-339-0995
  E-mail: mums@netnet.net
  Web site: http://www.netnet.net/mums/


Clinical Trials & Research (Found 3 resources) Resources where you may find research studies and clinical trials GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition. NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

- GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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