Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 05-07-2017
Symbol EKVP3
Location 6q22.31
Name erythrokeratodermia variabilis et progressiva 3
Corresponding gene GJA1
Main clinical features
  • normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema
  • Genetic determination not applicable
    Related entries including PPKCA1 (OMIM104100)
    Function/system disorder dermatology
    Type disease