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.
| Descriptor ID |
D005097
|
| 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
- Chondrodysplasia, Hereditary Deforming
- Chondrodysplasias, Hereditary Deforming
- Deforming Chondrodysplasia, Hereditary
- Deforming Chondrodysplasias, Hereditary
- Hereditary Deforming Chondrodysplasia
- Hereditary Deforming Chondrodysplasias
- Diaphyseal Aclasis
- Aclases, Diaphyseal
- Aclasis, Diaphyseal
- Diaphyseal Aclases
- Exostoses, Familial
- Exostoses, Hereditary Multiple
- Multiple Exostoses, Hereditary
- Exostoses, Multiple
- Multiple Exostoses
- Exostoses, Multiple Cartilaginous
- Cartilaginous Exostoses, Multiple
- Exostoses, Multiple, Type I
- Exostosis, Familial
- Familial Exostosis
- Exostosis, Hereditary Multiple
- Multiple Exostosis, Hereditary
- Exostosis, Multiple
- Multiple Exostosis
- Exostosis, Multiple Cartilaginous
- Cartilaginous Exostosis, Multiple
- Multiple Cartilaginous Exostosis
- Familial Exostoses
- Hereditary Multiple Exostoses
- Hereditary Multiple Exostosis
- Multiple Cartilaginous Exostoses
- Multiple Hereditary Exostoses
- Multiple Osteochondromas
- Multiple Osteochondroma
- Osteochondroma, Multiple
- Multiple Osteochondromatosis
- Osteochondromas, Multiple
- Bessel-Hagen Disease
|
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 this website by year, and whether "Exostoses, Multiple Hereditary" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 2000 | 1 | 0 | 1 |
| 2005 | 2 | 0 | 2 |
| 2010 | 1 | 0 | 1 |
| 2012 | 0 | 1 | 1 |
| 2017 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Exostoses, Multiple Hereditary" by people in Profiles.
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The Incidence of Vertebral Exostoses in Multiple Hereditary Exostoses and Recommendations for Spinal Screening. J Pediatr Orthop. 2021 Mar 01; 41(3):e226-e231.
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Hypertension in Potocki-Shaffer syndrome: A case report. Eur J Med Genet. 2020 Jan; 63(1):103633.
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Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. Am J Med Genet A. 2017 Mar; 173(3):716-720.
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
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Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010 Mar; 152A(3):565-72.
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Hereditary multiple exostosis and pain. J Pediatr Orthop. 2005 May-Jun; 25(3):369-76.
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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May; 13(5):528-40.
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The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. Dev Cell. 2001 Aug; 1(2):277-90.
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Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice. Dev Biol. 2000 Aug 15; 224(2):299-311.
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Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. Biochem Biophys Res Commun. 1998 Jul 30; 248(3):738-43.