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GENATLAS PHENOTYPE
last update : 08-06-2018
Symbol NEPPK
Location 17q21.2
Name palmoplantar keratoderma (hyperkeratosis), nonepidermolytic
Other name(s)
  • keratosis palmaris and plantaris, familiaris (Greither)
  • Unna-Thost type
    • Corresponding gene KRT16
    Other symbol(s) PPK, PPK1
    Main clinical features
  • diffuse, non epidermolytic or epidermolytic
  • focal palmoplantar keratoderma with oral, genital, and follicular lesions
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 16 (KRT16)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     mild or severe phenotype
    Remark(s)