Hereditary Multiple Exostoses

Alias:

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Exostoses, Multiple Hereditary

Exostoses Multiple Hereditary

Multiple Exostosis Syndromes

Osteochondromatosis Syndrome

Multiple Ostechondromas

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hereditary Multiple Exostoses, also known as multiple congenital exostosis, is related to exostoses, multiple, type i and hereditary multiple osteochondromas. An important gene associated with Hereditary Multiple Exostoses is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are Decreased human papilloma virus 16 (HPV16) pseudovirus infection and digestive/alimentary

Related ID：

MALACARDS：HRD001

MESH：D005097