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GENATLAS PHENOTYPE
last update : 31-08-2010
Symbol BCPM
Location 3q22.1
Name benign chronic pemphigus with acantholysis
Other name(s) Hailey-Hailey disease
Corresponding gene ATP2C1
Other symbol(s) BCPA, HHD
Main clinical features
  • recurrent eruption of vesicles and bullae at the sites of friction and in the intertriginous areas
  • around the third and fourth decades, with painful erosions, vesicopustules and scaly erythematous plaques appearing at sites of friction, frequent painful fissures on flexures, sometimes hypertrophic and malodorous, rare mucosal involvement, with recurrent exacerbations and remissions lasting months to years
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name a sarco/endoplasmic reticulum (ER-) Golgi calcium pump : ATP2C1, ATPase Ca2+ transporting C1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function  
    Remark(s) . keratinocytes containing an ATP2C1 mutation were deficient in intracellular Ca2+ regulation (PMID: 21329674))