Hereditary Multiple Osteochondromas

Hereditary Multiple Osteochondromas(来自ICD-11)

别称:

Hereditary Multiple Exostoses

Multiple Cartilaginous Exostoses

Multiple Hereditary Exostoses

Diaphyseal Aclasis

Exostoses, Multiple Hereditary

Multiple Congenital Exostosis

Multiple Osteochondromatosis

Multiple Osteochondromas

Bessel-Hagen Disease

Osteochondromatosis

Familial Exostoses

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to trichorhinophalangeal syndrome, type ii and exostoses, multiple, type i. An important gene associated with Hereditary Multiple Osteochondromas is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Diseases of glycosylation and Chondroitin sulfate/dermatan sulfate metabolism. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone.

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