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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Hamartoma Syndrome, Multiple
Neoplasms > Neoplastic Syndromes, Hereditary > Hamartoma Syndrome, Multiple
Neoplasms > Hamartoma > Hamartoma Syndrome, Multiple
Neoplasms > Neoplasms, Multiple Primary > Hamartoma Syndrome, Multiple

Preferred term

Hamartoma Syndrome, Multiple  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

  • Cowden Disease
  • Cowden's Disease
  • Cowdens Disease
  • Cowden's Syndrome
  • Cowdens Syndrome
  • Cowden Syndrome
  • Multiple Hamartoma Syndrome

Scope note

  • A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.

History note

  • 91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90

In other languages

  • multippeli hamartooma -oireyhtymä

    Finnish

  • Cowden
  • Cowdenin tauti
  • morbus Cowden
  • multippeli hamartooma -syndrooma
  • Multipelt hamartomsyndrom

    Swedish

  • Bannayan–Riley–Ruvalcaba syndrom
  • Cowdens syndrom
  • Dysplastiskt cerebellärt gangliocytom
  • Hamartomsyndrom, multipelt
  • Lhermitte-Duclos sjukdom
  • Ruvalcaba-Myhre-Smith syndrom

URI

http://www.yso.fi/onto/mesh/D006223

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