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Hamartoma Syndrome, Multiple MeSH Descriptor Data 2023

MeSH Heading
Hamartoma Syndrome, Multiple
Tree Number(s)
Unique ID
RDF Unique Identifier
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.
Entry Term(s)
Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Ruvalcaba-Riley Syndrome
Bannayan-Zonana Syndrome
Cowden Disease
Cowden Syndrome
Cowden's Disease
Cowden's Syndrome
Dysplastic Gangliocytoma of Cerebellum
Dysplastic Gangliocytoma of the Cerebellum
Lhermitte-Duclos Disease
Macrocephaly, Multiple Lipomas, and Hemangiomata
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata
Multiple Hamartoma Syndrome
Myhre-Riley-Smith Syndrome
PTEN Hamartoma Tumor Syndrome
Riley-Smith Syndrome
Ruvalcaba-Myhre Syndrome
Ruvalcaba-Myhre-Smith Syndrome
Previous Indexing
Hamartoma (1966-1986)
Neoplasms, Multiple Primary (1966-1986)
Public MeSH Note
91; was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90
History Note
91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90
Date Established
Date of Entry
Revision Date
Hamartoma Syndrome, Multiple Preferred
Lhermitte-Duclos Disease Related
PTEN Hamartoma Tumor Syndrome Related
Bannayan-Riley-Ruvalcaba Syndrome Related
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