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nail","onset_id":null,"reference":"OMIM:124200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f0b7a4a7a873602380e31a933cca424e6e63daf8db79374f1aa95afea832bc7c","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:124200","disease_name":"Darier-White disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008410","is_excluded":false,"label":"Subungual hyperkeratotic fragments","onset_id":null,"reference":"OMIM:124200","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/darier-disease\">Darier disease</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the ATP2A2 gene cause Darier disease. The ATP2A2 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 2 (SERCA2). This enzyme acts as a pump that helps control the level of positively charged calcium atoms (calcium ions) inside cells, particularly in the endoplasmic reticulum and the sarcoplasmic reticulum. The endoplasmic reticulum is a structure inside the cell that is involved in protein processing and transport. The sarcoplasmic reticulum is a structure in muscle cells that assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals.</p><p>ATP2A2 gene variants result in insufficient amounts of functional SERCA2 enzyme. A lack of functional SERCA2 enzyme reduces calcium levels in the endoplasmic reticulum, causing it to become dysfunctional. SERCA2 is expressed throughout the body; it is not clear why changes in this enzyme affect only the skin. Some researchers note that skin cells are the only cell types that express SERCA2 that do not have a &quot;back-up&quot; enzyme for calcium transport. This dependence on the SERCA2 enzyme may make skin cells particularly vulnerable to changes in this enzyme.</p><p>The linear form of Darier disease is caused by ATP2A2 gene variants that are acquired during a person&#x27;s lifetime and are present only in certain cells. These changes are called somatic variants and are not inherited. Currently, no cases of people with the linear form of Darier disease passing it on to their children have been reported in the scientific literature.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/darier-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Darier disease?"},{"bodyHtml":"<p>The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood. The severity of the disease varies over time; affected people experience flare-ups and with periods when they have fewer blemishes. The appearance of the blemishes is influenced by environmental factors. Most people with Darier disease will develop more blemishes during the summer when they are exposed to heat and humidity. The number of blemishes can also increase when an affected person is exposed to ultraviolet light; experiences minor injury or friction, such as rubbing or scratching; or takes certain medications.</p><p>On occasion, people with Darier disease may have neurological disorders such as mild intellectual disabilities, epilepsy, and depression. Learning and behavior difficulties have also been reported in people with Darier disease. Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. Some researchers believe that behavioral problems might be linked to the social stigma experienced by people with numerous skin blemishes.</p><p>A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. The blemishes are not as widespread as they are in typical Darier disease. Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/darier-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"darier-disease","sourceDocuments":[{"name":"Darier disease","reviewed":"2024-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:51.771790+00:00","label":"Causes","pageSha256":"82b1ca34a9a1e1f592ee8b1a79496ec963e63b0d118d929cf7d3c8692142ade2","sourceUrl":"https://medlineplus.gov/genetics/condition/darier-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/darier-disease"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Darier disease"},"schemaVersion":1}