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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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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]
Last updated: 11/15/2012


  1. Cowden syndrome. Genetics Home Reference (GHR). March 2006; Accessed 5/18/2011.
  2. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. May 5, 2009; Accessed 5/18/2011.
  3. Eng C. PTEN Hamartoma Tumor Syndrome. National Organization for Rare Disorders (NORD). 2007; Accessed 5/18/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Cowden syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • has a breast cancer guide for patients written by a breast cancer surgeon.
  • Genetics Home Reference (GHR) contains information on Cowden syndrome. This website is maintained by the National Library of Medicine.
  • 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.

In Depth 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 Online Mendelian Inheritance in Man (OMIM) is an 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 Cowden syndrome. Click on the link to view a sample search on this topic.