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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Darier disease


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


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How is Darier disease inherited?

Darier disease is inherited in an autosomal dominant pattern, which means one copy of the altered ATP2A2 gene in each cell is enough to cause the disorder.[1] Ninety-five percent of individuals who have a mutation in the ATP2A2 gene will exhibit symptoms of Darier disease, although the symptoms vary from person to person.  Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease (variable expressivity), suggesting that other genes or environmental factors affect the expression of Darier disease.[2]
 
A person can have a mutation in the ATP2A2 gene for different reasons.  In some cases, an individual with Darier disease inherits the mutation from one affected parent. Other cases may result from a new mutations (called de novo) in the gene. These cases occur in people with no history of the disorder in their family.[1] 

The linear form of Darier disease is generally not inherited but arises from random mutations in the body's cells that occur after conception. These alterations are called somatic mutations.[1]
Last updated: 7/20/2011

References
  1. Darier disease. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition=darierdisease. Accessed 3/6/2014.
  2. Kwok PY, Fitzmaurice S. Darier disease. Medscape Reference. September 21, 2012; http://emedicine.medscape.com/article/1107340-overview. Accessed 3/6/2014.