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GENATLAS PHENOTYPE
last update : 21-01-2009
Symbol PPKS3
Location 12q13
Name keratosis palmoplantar striata III
Other name(s) palmoplantar keratoderma, nonepidermolytic with KRT1 mutations
Corresponding gene KRT1
Other symbol(s) SPPKIII,
Main clinical features striate palmoplantar keratoderma ; onset during early childhood with striate palmoplantar keratoderma on the palms and more diffuse changes on the soles, without nonpalmoplantar skin, and both hair and nails normal
  • utrastructural studies showed that intermediate filaments of suprabasal keratinocytes were finer than those of the basal layer
    • Genetic determination autosomal dominant
    Prevalence very rare
    Related entries PPKS1, PPKS3, NEPPK
    Function/system disorder dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function gain-of-function mutation points to a subtle role of the 1B domain in mediating filament-filament interactions with regular periodicity
    Remark(s)