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GENATLAS PHENOTYPE
last update : 07-11-2016
Symbol PPKSR
Location 1p34.3
Name palmoplantar hyperkeratosis, with squamous cell carcinoma of skin and sex reversal
Corresponding gene RSPO1
Main clinical features
  • female-to-male sex reversal in the absence of SRY
  • palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin (SCC)
    • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    dermatology
    Type malformation
    Gene product
    Name ligands to Wnt signaling and beta-catenin activation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
    Remark(s) could lead to derepression of the male pathway in XX gonads