Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Proteus syndrome


Other Names for this Disease

  • Hemihypertrophy and macrocephaly
  • Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

What causes Proteus syndrome?

Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism.[1]

The AKT1 gene helps regulate cell growth and division. (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics of Proteus syndrome. Studies suggest that AKT1 gene mutations are more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.[1]
Last updated: 5/12/2014

References
  1. Proteus syndrome. Genetics Home Reference (GHR). June 2012; http://ghr.nlm.nih.gov/condition/proteus-syndrome. Accessed 5/12/2014.


Other Names for this Disease
  • Hemihypertrophy and macrocephaly
  • Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.