Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)

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56 relevant articles (0 outcomes, 3 trials/studies) found for this Disease

Description: 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.

Also Known As:

Hereditary Multiple Exostoses; Exostoses, Multiple; Hereditary Exostoses, Multiple; Multiple Cartilaginous Exostoses; Multiple Exostoses; Multiple Exostosis; Exostoses, Multiple Cartilaginous; Exostoses, Multiple Hereditary; Exostosis, Familial; Exostosis, Hereditary Multiple; Exostosis, Multiple; Exostosis, Multiple Cartilaginous; Hereditary Multiple Exostosis; Aclases, Diaphyseal; Aclasis, Diaphyseal; Cartilaginous Exostoses, Multiple; Cartilaginous Exostosis, Multiple; Chondrodysplasias, Hereditary Deforming; Deforming Chondrodysplasia, Hereditary; Deforming Chondrodysplasias, Hereditary; Diaphyseal Aclases; Familial Exostoses; Familial Exostosis; Hereditary Deforming Chondrodysplasia; Hereditary Deforming Chondrodysplasias; Multiple Cartilaginous Exostosis; Multiple Exostoses, Hereditary; Multiple Exostosis, Hereditary; Multiple Osteochondroma; Multiple Osteochondromas; Osteochondroma, Multiple; Chondrodysplasia, Hereditary Deforming; Diaphyseal Aclasis; Exostoses, Familial; Exostoses, Hereditary Multiple; Osteochondromas, Multiple

Disease Context: Research Results

Related Diseases

1.	Syndrome
2.	Obesity
3.	Neoplasms (Cancer)
4.	Exostoses
5.	Osteochondroma (Osteocartilaginous Exostosis)

Experts

1.	Wuyts, Wim: 2 articles (01/2008 - 07/2004)
2.	Roberts, Ian S D: 1 article (03/2008)
3.	Gleadle, Jonathan M: 1 article (03/2008)
4.	Van Hul, Els: 1 article (01/2008)
5.	Jennes, Ivy: 1 article (01/2008)
6.	Entius, Mark M: 1 article (01/2008)
7.	Sangiorgi, Luca: 1 article (01/2008)
8.	Parra, Alessandro: 1 article (01/2008)
9.	Bakker, Bert: 1 article (07/2004)
10.	Vink, Geraldine R: 1 article (07/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple Hereditary Exostoses:

Carbon MonoxideIBA

09/26/1963 - "STUDIES ON FAMILIAL CO-OCCURRENCE OF MULTIPLE CARTILAGINOUS EXOSTOSES.]"
07/01/1999 - "In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system"
01/01/2008 - "The existence of exostosis and shortening of metacarpal bones has been described in the literature as part of the hereditary multiple exostosis syndrome but no case has been reported with the co-existence of sesamoid ossicles in the same patient"
10/24/2003 - "Heparan, the common unsulfated precursor of heparan sulfate (HS) and heparin, is synthesized on the glycosaminoglycan-protein linkage region tetrasaccharide GlcUA-Gal-Gal-Xyl attached to the respective core proteins presumably by HS co-polymerases encoded by EXT1 and EXT2, the genetic defects of which result in hereditary multiple exostoses in humans"
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Cyclin-Dependent Kinase Inhibitor p15IBA

12/01/2007