KEGG DISEASE: Darier disease

KEGG

DISEASE: Darier disease

Entry

H00715                      Disease

Name

Darier disease;
Dyskeratosis follicularis

Description

Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] is often discussed together with Darier disease. Both diseases are autosomal dominantly inherited genodermatosis and are caused by abnormal epidermal calcium homeostasis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00715  Darier disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H00715  Darier disease
Cellular process
  nt06535  Efferocytosis
   H00715  Darier disease

Pathway

Calcium signaling pathway

Network

nt06528 Calcium signaling
nt06535 Efferocytosis

Gene

ATP2A2 [HSA:488] [KO:K05853]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Savignac M, Edir A, Simon M, Hovnanian A

Title

Darier disease : a disease model of impaired calcium homeostasis in the skin.

Journal

Biochim Biophys Acta 1813:1111-7 (2011)
DOI:10.1016/j.bbamcr.2010.12.006

Reference

Authors

Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR

Title

Dyskeratosis follicularis disease: case reports and review of the literature.

Journal

J Eur Acad Dermatol Venereol 19:114-7 (2005)
DOI:10.1111/j.1468-3083.2004.01096.x

Reference

Authors

Foggia L, Hovnanian A

Title

Calcium pump disorders of the skin.

Journal

Am J Med Genet C Semin Med Genet 131C:20-31 (2004)
DOI:10.1002/ajmg.c.30031

Reference

Authors

Tomaszewska KA, Gerlicz-Kowalczuk Z, Kregiel M, Noweta M, Pluzanka-Srebrzynska K, Zuchowska A, Kaszuba A

Title

The coexistence of Darier's disease and Hailey-Hailey disease symptoms.

Journal

Postepy Dermatol Alergol 34:180-183 (2017)
DOI:10.5114/ada.2017.67087

LinkDB

» Japanese version

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