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Hamartoma Syndrome, Multiple

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.

Year introduced: 1991(1987)

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Tree Number(s): C04.445.435, C04.651.435, C04.700.435, C16.320.700.435

MeSH Unique ID: D006223

Entry Terms:

  • Hamartoma Syndromes, Multiple
  • Multiple Hamartoma Syndromes
  • Multiple Hamartoma Syndrome
  • Cowden's Disease
  • Cowdens Disease
  • Cowden's Syndrome
  • Cowdens Syndrome
  • Cowden Disease
  • Cowden Syndrome
  • Lhermitte-Duclos Disease
  • Lhermitte Duclos Disease
  • Dysplastic Gangliocytoma of Cerebellum
  • Cerebellum Dysplastic Gangliocytoma
  • Cerebellum Dysplastic Gangliocytomas
  • Dysplastic Gangliocytoma of the Cerebellum
  • PTEN Hamartoma Tumor Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Bannayan Riley Ruvalcaba Syndrome
  • Macrocephaly, Multiple Lipomas, and Hemangiomata
  • Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas
  • Ruvalcaba-Myhre Syndrome
  • Myhre-Riley-Smith Syndrome
  • Myhre Riley Smith Syndrome
  • Riley-Smith Syndrome
  • Riley Smith Syndrome
  • Ruvalcaba-Myhre-Smith Syndrome
  • Ruvalcaba Myhre Smith Syndrome
  • Bannayan-Ruvalcaba-Riley Syndrome
  • Bannayan-Zonana Syndrome
  • Bannayan Zonana Syndrome
  • Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata

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