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 | 0 | 3 |
| 2008 | 1 | 0 | 1 |
| 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 |
| 2020 | 3 | 0 | 3 |
| 2021 | 3 | 0 | 3 |
| 2022 | 5 | 0 | 5 |
| 2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Hamartoma Syndrome, Multiple" by people in Profiles.
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Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord. 2023 01 14; 15(1):3.
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A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Hum Mol Genet. 2022 10 10; 31(20):3393-3404.
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Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc. 2022 06; 95(6):1025-1047.
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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 06; 162(7):2063-2085.
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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2022 06 01; 117(6):846-864.
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Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. J Neurodev Disord. 2022 03 23; 14(1):24.
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Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis. Am J Dermatopathol. 2022 Aug 01; 44(8):545-552.
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Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1121-e1130.
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Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome. JCO Precis Oncol. 2021; 5.
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Overgrowth syndromes and new therapies. Semin Pediatr Surg. 2020 Oct; 29(5):150974.