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GENATLAS PHENOTYPE
last update : 03-12-2015
Symbol CWS2
Location 1p36.13
Name Cowden syndrome 2
Corresponding gene SDHB
Main clinical features
  • hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms
  • multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid, are encountered; verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa, and multiple facial trichilemmomas
  • Genetic determination not applicable
    Function/system disorder dermatology
    digestive tract/gastrointestinal
    endocrinology
    Type disease
    Remark(s)