Hereditary Multiple Osteochondromas

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KEGG 37 H00122

UMLS 73 C0206641

NIH Rare Diseases : ⁵³ Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. These tumors are not present at birth, but almost all affected people develop multiple osteochondromas by the time they are 12 years old. Once the bones stop growing, the development of new osteochondromas also usually stops. Osteochondromas can cause abnormal growth of the arms, hands, and legs, which can lead to uneven limb lengths (limb length discrepancy) and short stature. These tumors may cause pain, limit joint movement, and exert pressure on nerves, blood vessels, and surrounding tissues. Osteochondromas are typically benign; however, researchers estimate that people with HMO have about a 1% lifetime risk of these tumors becoming a cancerous osteochondrosarcoma. HMO is caused by mutations in the EXT1 and EXT2 genes and is inherited in an autosomal dominant pattern.

MalaCards based summary : Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to osteochondroma and exostoses, multiple, type i. An important gene associated with Hereditary Multiple Osteochondromas is EXT2 (Exostosin Glycosyltransferase 2), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - heparan sulfate / heparin and Metabolism. Affiliated tissues include bone, testes and spinal cord.

Genetics Home Reference : ²⁵ Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade.

GeneReviews: NBK1235

Search NIH Clinical Center for Hereditary Multiple Osteochondromas

Search GEO for disease gene expression data for Hereditary Multiple Osteochondromas.