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Diseases

Genetic and Rare Diseases Information Center (GARD)

Darier disease


Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
  • Darier-White disease
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Cause

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What causes Darier disease?

Darier disease is caused by mutations in the ATP2A2 gene. This gene gives the body instructions to make an enzyme known as SERCA2. This enzyme helps control the level of calcium ions inside cells. Calcium ions act as signals for many cell functions needed for normal development.

Mutations in the ATP2A2 gene affect the amount or function of the SERCA2 enzyme. This enzyme is expressed throughout the body, and it is unclear why mutations in this gene affect only the skin.

The linear form of Darier disease is also caused by ATP2A2 gene mutations, but these mutations are acquired and arise in only some body cells after conception (somatic mutations).[1]
Last updated: 12/15/2015

References
  1. Darier disease. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition=darierdisease. Accessed 3/6/2014.


Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
  • Darier-White disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.