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GENATLAS PHENOTYPE
last update : 05-07-2017
Symbol EKV
Location 1p34.3
HGNC id 3307
Name erythrokeratodermia variabilis et progressiva
Other name(s) erythrokeratodermia variabilis of Mendes da Costa
Corresponding gene GJB3 , GJB4
Other symbol(s) PPKD3, EKVP1, EKVP2
Main clinical features
  • indepedent occurence of transient figurate red patches and localized or generalized hyperkeratosis, and erythema gyratum repens excluding palmoplantar keratoderma, diffuse, Greither type
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries including EKV associated with ataxia
    Function/system disorder dermatology
    Type disease
    Gene product
    Name gap junction protein beta 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation in the N terminal or in the M1 domain
    missense     L209F, recurrent mutation, affecting a conserved residue in the cytoplasmic carboxy-terminus of any connexin gene with a cutaneous phenotype, emphasizing its structural and/or functional importance
    Remark(s) Gly12Asp (G12D) causes erythrokeratodermia variabilis and progressive symmetric erythrokeratodermia (PMID: 19291775))