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 |
|---|
| 2000 | 0 | 1 | 1 |
| 2001 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hamartoma Syndrome, Multiple" by people in Profiles.
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Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing. JCO Precis Oncol. 2023 01; 7:e2200415.
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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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A Diagnosis of Small Bowel Polyposis. Gastroenterology. 2017 Mar; 152(4):e9-e10.
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Two Children with macrocephaly, developmental delay, and PTEN mutation. Clin Pediatr (Phila). 2009 Jan; 48(1):89-92.
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Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet. 2001 Mar; 38(3):159-64.
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Expression of CD34 in sclerotic ("plywood") fibromas. Am J Dermatopathol. 2000 Feb; 22(1):17-21.