Cowden's disease

Genetic and Rare Diseases Information Center (GARD)

Cowden disease
CD
Cowden's syndrome
CS
Multiple hamartoma syndrome
MHAM

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Cowden's disease
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Cowden's disease is an inherited disorder characterized by multiple noncancerous, tumor-like growths called hamartomas on various areas of the body. Affected individuals are at an increased risk of developing certain cancers, especially cancer of the breast, thyroid or endometrium (lining the uterus). ^[1]^[2]^[3]

References

Cowden syndrome. Genetics Home Reference (GHR). March 2006 Available at: http://ghr.nlm.nih.gov/condition=cowdensyndrome. Accessed August 18, 2008.
Zbuk KM, Stein JL, Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. January 10, 2006 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phts. Accessed August 18, 2008.
Eng C. PTEN Hamartoma Tumor Syndrome. National Organization for Rare Disorders (NORD). 2007 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=PTEN%20Hamartoma%20Tumor%20Syndrome. Accessed August 18, 2008.

For more information about Cowden's disease click on the boxes below:

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

Questions & Answers (Found:1 Question)

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.

My physician recently mentioned that I may be at risk for Cowden's disease. What can you tell me about this condition? (Click here for answer)

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More Detailed Information (Found: 7 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
    
    Genetics Home Reference (GHR) contains a condition summary on Cowden's disease. Click on the link to go to GHR and review this summary.
    
    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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cowden's disease. 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 Cowden's disease. 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.
Support Groups (Found: 5 Resources)
Groups providing a wide range of services, supportive resources, and information
- 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/
- Disease-Specific Organizations
  - Cowdens Syndrome & Bannayan-Riley-Ruvalcaba Syndrome Foundation
    1394 Wedgewood Drive
    Salne MI 48176
    Phone: 734-944-8313
    Email: Rosalita@comcast.net
    Cowden Syndrome
- Live Chat
  - 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.
Clinical Trials & Research (Found: 2 Resources)
Resources where you may find research studies and clinical trials
- - ClinicalTrials.gov lists trials that are studying or have studied Cowden's disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  - CRISP is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies click on the link and enter the disease name in the enter search terms box and click the and button below the box. Then click Submit Query.
Services (Found: 1 Resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- 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: 2 Resources)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
- Past Conferences
  - Xeroderma Pigmentosum and other Diseases of Human Premature Aging and DNA Repair: Molecules to Patients, September 5, 2006
    Location: National Conference Center, Lansdowne, VA
    Description: This meeting was a follow-up of one held in 2004. The purpose of this workshop was to gather leading scientists and clinicians in this very active area of research. The clinical and mechanistic aspects of Cowden's syndrome (CS) and related DNA repair/transcription defective disorders such as xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) were explored. Our goals were to develop new multidisciplinary collaborations, interactions, and relationships that can lead to a greater understanding of the pathophysiological mechanisms involved in these disorders and to conceive new therapeutic strategies for their treatment.
    
    Workshop on Phacomatoses Revisited (Neurofibromatosis 1 and 2, Tuberous Sclerosis 1 and 2 [TSC1, 2], von Hippel-Lindau syndrome [VHL], Gorlin syndrome [PTCh], Cowden's disease [PTEN], Familial Adenomatous Polyposis [APC]), March 3, 1999
NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
- - The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.

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