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GENATLAS PHENOTYPE
last update : 08-06-2018
Symbol PC117
Location 17q21.2
Name pachyonychia congenita, type 1
Other name(s) Jadassohn-Lewandowsky type
Corresponding gene KRT16
Other symbol(s) PC1, POC1A, PCHC2A
Main clinical features
  • characterized by ectodermal dysplasia, dystrophic nails, oral leukokeratoses, palmoplantar keratoderma (hyperkeratosis), hyperhidrosis
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 16, type I (KRT16)
    Remark(s)