Exostoses, Multiple Hereditary
"Exostoses, Multiple Hereditary" 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.
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
MeSH Number(s)
C04.557.450.565.575.610.615.325
C04.700.330
C05.116.099.708.670.615.325
C05.116.540.310.500
C16.320.700.330
Concept/Terms
Exostoses, Multiple Hereditary- Exostoses, Multiple Hereditary
- Hereditary Exostoses, Multiple
- Multiple Hereditary Exostoses
- Exostoses, Familial
- Exostoses, Hereditary Multiple
- Exostoses, Multiple
- Exostoses, Multiple Cartilaginous
- Exostosis, Familial
- Familial Exostoses
- Familial Exostosis
- Exostosis, Multiple
- Multiple Exostoses
- Multiple Exostosis
- Exostosis, Multiple Cartilaginous
- Cartilaginous Exostoses, Multiple
- Cartilaginous Exostosis, Multiple
- Multiple Cartilaginous Exostoses
- Multiple Cartilaginous Exostosis
- Hereditary Multiple Exostoses
- Hereditary Multiple Exostosis
- Osteochondromas, Multiple
- Multiple Osteochondroma
- Multiple Osteochondromas
- Osteochondroma, Multiple
- Diaphyseal Aclasis
- Aclases, Diaphyseal
- Aclasis, Diaphyseal
- Diaphyseal Aclases
- Chondrodysplasia, Hereditary Deforming
- Chondrodysplasias, Hereditary Deforming
- Deforming Chondrodysplasia, Hereditary
- Deforming Chondrodysplasias, Hereditary
- Hereditary Deforming Chondrodysplasia
- Hereditary Deforming Chondrodysplasias
- Exostosis, Hereditary Multiple
- Multiple Exostoses, Hereditary
- Multiple Exostosis, Hereditary
Below are MeSH descriptors whose meaning is more general than "Exostoses, Multiple Hereditary".
- Diseases [C]
- Neoplasms [C04]
- Neoplasms by Histologic Type [C04.557]
- Neoplasms, Connective and Soft Tissue [C04.557.450]
- Neoplasms, Connective Tissue [C04.557.450.565]
- Neoplasms, Bone Tissue [C04.557.450.565.575]
- Osteochondroma [C04.557.450.565.575.610]
- Osteochondromatosis [C04.557.450.565.575.610.615]
- Exostoses, Multiple Hereditary [C04.557.450.565.575.610.615.325]
- Neoplastic Syndromes, Hereditary [C04.700]
- Exostoses, Multiple Hereditary [C04.700.330]
- Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
- Bone Diseases, Developmental [C05.116.099]
- Osteochondrodysplasias [C05.116.099.708]
- Osteochondroma [C05.116.099.708.670]
- Osteochondromatosis [C05.116.099.708.670.615]
- Exostoses, Multiple Hereditary [C05.116.099.708.670.615.325]
- Hyperostosis [C05.116.540]
- Exostoses [C05.116.540.310]
- Exostoses, Multiple Hereditary [C05.116.540.310.500]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Neoplastic Syndromes, Hereditary [C16.320.700]
- Exostoses, Multiple Hereditary [C16.320.700.330]
Below are MeSH descriptors whose meaning is more specific than "Exostoses, Multiple Hereditary".
This graph shows the total number of publications written about "Exostoses, Multiple Hereditary" by people in Harvard Catalyst Profiles by year, and whether "Exostoses, Multiple Hereditary" 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 |
|---|
| 1998 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2011 | 2 | 0 | 2 |
| 2012 | 0 | 1 | 1 |
| 2014 | 1 | 1 | 2 |
| 2017 | 2 | 1 | 3 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
Below are the most recent publications written about "Exostoses, Multiple Hereditary" by people in Profiles.
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The Impact of Isolated Versus Multiple Osteochondromas: Analysis of the CoULD Registry. J Pediatr Orthop. 2022 Aug 01; 42(7):387-392.
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Peroneal Nerve Function Before and Following Surgical Excision of a Proximal Fibular Osteochondroma. J Pediatr Orthop. 2021 Jan; 41(1):61-66.
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Single-Bone Forearm as a Salvage Procedure in Recalcitrant Pediatric Forearm Pathologies. J Hand Surg Am. 2020 Oct; 45(10):947-956.
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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome. J Exp Med. 2020 03 02; 217(3).
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Effect of Distal Ulna Osteochondroma Excision and Distal Ulnar Tether Release on Forearm Deformity in Preadolescent Patients With Multiple Hereditary Exostosis. J Pediatr Orthop. 2020 Mar; 40(3):e222-e226.
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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. Eur J Hum Genet. 2019 03; 27(3):378-383.
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SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. Sci Rep. 2017 10 05; 7(1):12699.
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Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly. Cardiovasc Pathol. 2017 Nov - Dec; 31:20-25.
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Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells. Neuroscience. 2018 02 01; 370:170-180.
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SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. PLoS Genet. 2014; 10(5):e1004364.