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.
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
- Syndrome, Multiple Hamartoma
- Syndromes, Multiple Hamartoma
- Multiple Hamartoma Syndrome
- Cowden's Disease
- Cowdens Disease
- Disease, Cowden's
- Cowden's Syndrome
- Cowdens Syndrome
- Syndrome, Cowden's
- Cowden Disease
- Disease, Cowden
- Cowden Syndrome
- Syndrome, Cowden
Bannayan-Riley-Ruvalcaba Syndrome- Bannayan-Riley-Ruvalcaba Syndrome
- Bannayan Riley Ruvalcaba Syndrome
- Syndrome, Bannayan-Riley-Ruvalcaba
- Macrocephaly, Multiple Lipomas, and Hemangiomata
- Ruvalcaba-Myhre-Smith Syndrome
- Ruvalcaba Myhre Smith Syndrome
- Syndrome, Ruvalcaba-Myhre-Smith
- Myhre-Riley-Smith Syndrome
- Myhre Riley Smith Syndrome
- Syndrome, Myhre-Riley-Smith
- Riley-Smith Syndrome
- Riley Smith Syndrome
- Syndrome, Riley-Smith
- Ruvalcaba Syndrome
- Syndrome, Ruvalcaba
- Bannayan-Zonana Syndrome
- Bannayan Zonana Syndrome
- Syndrome, Bannayan-Zonana
- Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas
Lhermitte-Duclos Disease- Lhermitte-Duclos Disease
- Disease, Lhermitte-Duclos
- Lhermitte Duclos Disease
- Dysplastic Gangliocytoma of Cerebellum
- Cerebellum Dysplastic Gangliocytoma
- Cerebellum Dysplastic Gangliocytomas
- Dysplastic Gangliocytoma of the Cerebellum
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 Harvard Catalyst Profiles by year, and whether "Hamartoma Syndrome, Multiple" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 1 | 2 |
| 1998 | 2 | 3 | 5 |
| 1999 | 1 | 2 | 3 |
| 2001 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2006 | 0 | 1 | 1 |
| 2007 | 3 | 1 | 4 |
| 2008 | 2 | 0 | 2 |
| 2009 | 2 | 0 | 2 |
| 2010 | 2 | 1 | 3 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 5 | 1 | 6 |
| 2014 | 3 | 0 | 3 |
| 2015 | 2 | 0 | 2 |
| 2016 | 2 | 2 | 4 |
| 2017 | 3 | 0 | 3 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
Below are the most recent publications written about "Hamartoma Syndrome, Multiple" by people in Profiles.
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WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. N Engl J Med. 2020 05 28; 382(22):2103-2116.
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Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome. Am J Respir Crit Care Med. 2020 03 15; 201(6):731-732.
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Brain morphological analysis in PTEN hamartoma tumor syndrome. Am J Med Genet A. 2020 05; 182(5):1117-1129.
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PTEN Mouse Models of Cancer Initiation and Progression. Cold Spring Harb Perspect Med. 2020 02 03; 10(2).
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Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients. Mod Pathol. 2019 12; 32(12):1814-1822.
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PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female. Skeletal Radiol. 2017 Nov; 46(11):1591-1595.
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PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Clin Cancer Res. 2017 Jun 15; 23(12):e76-e82.
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Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway. Dermatol Clin. 2017 Jan; 35(1):51-60.
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JC virus granule cell neuronopathy in the setting of chronic lymphopenia treated with recombinant interleukin-7. J Neurovirol. 2017 02; 23(1):141-146.
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Dermatofibrosarcoma Protuberans in a Patient With Cowden Syndrome: Revisiting the PTEN and PDGF Pathways. Am J Dermatopathol. 2016 Apr; 38(4):e40-3.