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Cowden syndrome

Other Names for this Disease
  • CD
  • Cowden disease
  • Cowden's disease
  • CS
  • MHAM
More Names
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Overview


Cowden syndrome 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). Cowden syndrome is caused by mutations in the PTEN, SDHB, SDHD, and KLLN  genes. This condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene.[1][2][3]


References

  1. Cowden syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=cowdensyndrome. Accessed May 18, 2011.
  2. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed May 18, 2011.
  3. Eng C. PTEN Hamartoma Tumor Syndrome. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1186/viewAbstract. Accessed May 18, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Cowden syndrome. Click on the link to go to GHR and review the information.
  • Genetics Home Reference (GHR) has an information on PTEN, the gene that has been associated with this condition. Click on the link to view the information.
  • Medscape Reference 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 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.
  • Orphanet is a European reference portal for 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 syndrome. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cowden syndrome. Click on the link to go to OMIM and review these resources.