Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • VHL syndrome
  • VHL
  • Von Hippel Lindau disease
  • Von Hippel-Lindau disease
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Von Hippel-Lindau syndrome
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Von Hippel-Lindau (VHL) syndrome is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The specific tumors that are associated with VHL syndrome include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac).[1][2] Mutations in the VHL gene cause von Hippel-Lindau syndrome. These mutations are  inherited in an autosomal dominant pattern.[2] Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage.[3]

References
  1. Schimke RN, Collins DL, and Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews Web site. 2007 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vhl. Accessed February 09, 2009.
  2. Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). 2008 Available at: http://ghr.nlm.nih.gov/condition=vonhippellindausyndrome. Accessed February 09, 2009.
  3. Von Hippel-Lindau Disease. MedlinePlus. 2009 Available at: http://www.nlm.nih.gov/medlineplus/vonhippellindaudisease.html. Accessed February 09, 2009.

Questions & Answers (Found 3 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Von Hippel-Lindau syndrome click on the boxes below:
More Detailed Information NLM Gateway Services Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines | Selected Full-Text Journal Articles
More Detailed Information (Found 14 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on Von Hippel-Lindau syndrome. Click on the link to go to GHR and review this summary.
    • MedlinePlus has an information page on Von Hippel-Lindau syndrome. Click on the MedlinePlus link to access this page.
    • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The National Institute of Neurological Disorders and Stroke (NINDS) has an information page on Von Hippel-Lindau syndrome.  Click on the NINDS page to learn more.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Von Hippel-Lindau syndrome. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Von Hippel-Lindau syndrome. Click on the link to view a sample search on this topic.
    • The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for kidney cancer, a cancer associated with this condition. More information about applying for Social Security disability benefits is available online.
      Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022205
    • The VHL Family Alliance has created a handbook on Von Hippel-Lindau syndrome called
      The VHL Handbook: What you Need to Know about VHL. The publication is a reference handbook for people with von Hippel-Lindau Disease, their families, and support personnel. Click on the name of the handbook to read more.
  • Management Guidelines

    • GeneReviews provides comprehensive articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the GeneReviews link to access the article on Von Hippel-Lindau syndrome.
    • 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.
  • Selected Full-Text Journal Articles

    • Click here to read a review article published in the Japanese Journal of Clinical Oncology about Von Hippel-Lindau disease entitled: Von Hippel–Lindau Disease: Molecular Pathological Basis, Clinical Criteria, Genetic Testing, Clinical Features of Tumors and Treatment
 
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
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

    • The VHL Family Alliance has created a new discussion forum.  This new, more modern format allows users not only to have interactive conversations on particular topics, but to organize the conversation so that newcomers can easily get up-to-speed, and so that we can find topics that have been discussed in the past.
  • 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

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • 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

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

    • ClinicalTrials.gov lists trials that are studying or have studied Von Hippel-Lindau syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • The VHL Family Alliance has teamed up with the National Disease Research Interchange (NDRI) to create a tissue bank to help scientists find ways of improving diagnosis and treatment of Von Hippel-Lindau syndrome.  To learn more about this tissue bank, click here.
  • Patient Registry

    • The VHL Family Alliance has created a VHL Research Database to collect information from affected people so that we can provide some statistical information to researchers, making it easier for researchers to obtain data and therefore encouraging them to do more research on Von Hippel-Lindau syndrome. Visit the VHL Research Database link to learn more.

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