KEGG   DISEASE: Familial benign chronic pemphigus
Entry
H00844                      Disease                                

Name
Familial benign chronic pemphigus;
Hailey-Hailey disease
Description
Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00844  Familial benign chronic pemphigus
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
    H00844  Familial benign chronic pemphigus
Gene
ATP2C1 [HSA:27032] [KO:K01537]
Other DBs
ICD-11: EC20.2
ICD-10: Q82.8
MeSH: D016506
OMIM: 169600
Reference
  Authors
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM
  Title
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
  Journal
Br J Dermatol 150:821-8 (2004)
DOI:10.1111/j.1365-2133.2004.05904.x
Reference
  Authors
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr
  Title
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
  Journal
Nat Genet 24:61-5 (2000)
DOI:10.1038/71701
Reference
  Authors
Engin B, Kutlubay Z, Celik U, Serdaroglu S, Tuzun Y
  Title
Hailey-Hailey disease: A fold (intertriginous) dermatosis.
  Journal
Clin Dermatol 33:452-5 (2015)
DOI:10.1016/j.clindermatol.2015.04.006
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