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Diseases

Genetic and Rare Diseases Information Center (GARD)

Peutz-Jeghers syndrome


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
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Cause

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What causes Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS.[1]

Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.[1]
Last updated: 3/15/2015

References
  1. Peutz-Jeghers syndrome. Genetics Home Reference. February 2013; http://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome.


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.