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GENATLAS PHENOTYPE
last update : 13-02-2013
Symbol MHAM
Location 10q23.31
Name Cowden syndrome
Other name(s) multiple hamartoma syndrome, PTEN-hamartoma syndrome
Corresponding gene PTEN
Other symbol(s) CWD,CS,CD, PHTS
Main clinical features
  • cancer predisposition syndrome
  • multiple hamartoma or cancer in the breast, thyroid, endometrial, skin, CNS and gastrointestinal tract
  • cutaneous manifestations including acral verrucous papules, trichilemmomas (benign tumors of the hair follicle infundibulum) of the face, and fibromas of the oral mucosa, gingiva and tongue
  • macrocephaly > 4-5 DS, mental retardation
  • Genetic determination autosomal dominant
    Related entries BZS, MCAUTS
    Function/system disorder dermatology
    digestive tract/gastrointestinal
    neoplasia
    Type malignancy
    Gene product
    Name tumor suppressor gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     R173H, mostly frequent
    other   abnormal protein/loss of function alterations within the promoter appear to correlate with a high prevalence of breast cancer
    Remark(s)
  • grouped with its allelic disorder Bannayan-Zonana syndrome (BZS) for clinical purposes and classified as the PTEN hamartomas-tumor syndrome (PHTS)
  • patients with destabilizing PTEN mutations and proteasome hyperactivity are more susceptible to develop neurologic symptoms such as mental retardation and autism than mutation-positive patients with normal proteasome activity (PMID: 23475934))
  • Genotype/Phenotype correlations the splice variants expressional profiles are distinct among CS, CS-like, and BRRS, regardless of PTEN mutation status, supporting the concept that modulation of PTEN inactivation may also occur at the transcription level influencing the specific phenotypes seen in these syndromes