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Exostoses, Multiple Hereditary

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Definition: 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.      Other names Osteochondromas, Multiple; Hereditary Multiple Exostoses; Exostoses, Multiple Cartilaginous; Exostoses, Multiple; Exostoses, Hereditary Multiple; Exostoses, Familial; Diaphyseal Aclasis; Chondrodysplasia, Hereditary Deforming; Osteochondroma, Multiple; Multiple Osteochondromas; Multiple Osteochondroma; Multiple Hereditary Exostoses; Multiple Exostosis, Hereditary; Multiple Exostosis; Multiple Exostoses, Hereditary; Multiple Exostoses; Multiple Cartilaginous Exostosis; Multiple Cartilaginous Exostoses; Hereditary Exostoses, Multiple; Hereditary Deforming Chondrodysplasias
 
SubstanceCAS Registry & nameCategoriesSource
Chondrodysplasia, blomstrand type  0   *Exostoses, Multiple Hereditary *Osteochondrodysplasias.
Stuve-Wiedemann syndrome  0   *Exostoses, Multiple Hereditary *Osteochondrodysplasias.
Metaphyseal acroscyphodysplasia  0   *Exostoses, Multiple Hereditary *Hand Deformities, Congenital Epiphyses/abnormalities Knee/abnormalities.
Kniest like dysplasia lethal  0   *Exostoses, Multiple Hereditary *Hyaline Membrane Disease *Polyhydramnios *Macrocephaly Neck/abnormalities.
Dermochondrocorneal dystrophy of Fran+šois  0   *Corneal Dystrophies, Hereditary *Exostoses, Multiple Hereditary.
Extl3 protein, mouse  0   *N-Acetylglucosaminyltransferases Exostoses, Multiple Hereditary.
EXTL3 protein, human  0   *N-Acetylglucosaminyltransferases Exostoses, Multiple Hereditary. Biochem Biophys Res Commun 1998 Feb 4;243(1):61-6; Genomics 1998 Jan 15;47(2):230-7
exostosin-1  EC 2.4.1.224   *N-Acetylglucosaminyltransferases Exostoses, Multiple Hereditary. Genomics 1997 Mar 1;40(2):351-4
exostosin-2  EC 2.4.1.224   *N-Acetylglucosaminyltransferases Exostoses, Multiple Hereditary Genes, Tumor Suppressor. Nat Genet 1996 Sep;14(1):25-32

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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