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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol EBDD
Location 3p21.31
Name epidermolysis bullosa dystrophic, generalized
Other name(s)
  • epidermolysis bullosa dystrophic, Pasini type
  • epidermolysis bullosa dystrophic, Cockayne-Touraine type
    • Corresponding gene COL7A1
    Other symbol(s) DEB
    Main clinical features
  • blistering and scarring of the skin and mucous membranes in response to mechanical force
  • generalized
    • Genetic determination autosomal dominant
    Related entries including: . Bart type, acral form with congenital localized absence of skin affecting lower limbs, absence/deformity of nails, blistering of skin and mucosa . acral and pretibial localized subtypes
    Function/system disorder dermatology
    Type disease
    Gene product
    Name collagen type VII, alpha 1 (COL7A1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     Glycine substitution mutations
    abnormal splicing      
    Remark(s) allelic dystrophic EB subtypes includes: DDEB, generalized ( previous name Pasini and Cockaine-Touraine type), RDEB, severe generalized ( Hallopeau-Siemens) and RDEB generalized other (non-Hallopeau-Siemens type), DDEB or RDEB acral, DDEB or RDEB pretibial, DEB pruriginosa