Hamartoma Syndrome, Multiple
"Hamartoma Syndrome, Multiple" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D006223
|
| MeSH Number(s) |
C04.445.435 C04.651.435 C04.700.435 C16.320.700.435
|
| Concept/Terms |
Hamartoma Syndrome, Multiple- Hamartoma Syndrome, Multiple
- 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
- Lhermitte Duclos Disease
- Dysplastic Gangliocytoma of Cerebellum
- Cerebellum Dysplastic Gangliocytoma
- Cerebellum Dysplastic Gangliocytomas
- Dysplastic Gangliocytoma of the Cerebellum
Bannayan-Riley-Ruvalcaba 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
|
Below are MeSH descriptors whose meaning is more general than "Hamartoma Syndrome, Multiple".
- Diseases [C]
- Neoplasms [C04]
- Hamartoma [C04.445]
- Hamartoma Syndrome, Multiple [C04.445.435]
- Neoplasms, Multiple Primary [C04.651]
- Hamartoma Syndrome, Multiple [C04.651.435]
- Neoplastic Syndromes, Hereditary [C04.700]
- Hamartoma Syndrome, Multiple [C04.700.435]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Neoplastic Syndromes, Hereditary [C16.320.700]
- Hamartoma Syndrome, Multiple [C16.320.700.435]
Below are MeSH descriptors whose meaning is more specific than "Hamartoma Syndrome, Multiple".
This graph shows the total number of publications written about "Hamartoma Syndrome, Multiple" by people in this website by year, and whether "Hamartoma Syndrome, Multiple" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
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Below are the most recent publications written about "Hamartoma Syndrome, Multiple" by people in Profiles.
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Gruhl SL, Sharma P, Han TS. A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report. J Med Case Rep. 2018 Nov 28; 12(1):353.
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Trotman LC, Wang X, Alimonti A, Chen Z, Teruya-Feldstein J, Yang H, Pavletich NP, Carver BS, Cordon-Cardo C, Erdjument-Bromage H, Tempst P, Chi SG, Kim HJ, Misteli T, Jiang X, Pandolfi PP. Ubiquitination regulates PTEN nuclear import and tumor suppression. Cell. 2007 Jan 12; 128(1):141-56.
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Doxey BW, Kuwada SK, Burt RW. Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing. Clin Gastroenterol Hepatol. 2005 Jul; 3(7):633-41.