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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-10-2013
Symbol PPK1B
Location 12q13.12
Name palmoplantar keratoderma (hyperkeratosis), Bothnian type
Other name(s) PPK type Bothnia
Corresponding gene AQP5
Other symbol(s) PPKB
Main clinical features
  • diffuse, non epidermolytic, hyperkeratosis of the skin of palms and soles
  • Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function