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HMO
MCID: HRD104
MIFTS: 39
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Hereditary Multiple Osteochondromas (HMO)
Categories:
Bone diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Hereditary Multiple Osteochondromas:
Characteristics:GeneReviews:24
Penetrance
The penetrance is estimated to be 96% in females and 100% in males. most published instances of reduced penetrance have occurred in females. however, comprehensive skeletal radiographs have not been performed in most of these instances...
Classifications: |
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NIH Rare Diseases
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53
Hereditary multiple osteochondromas (HMO), also called hereditary multiple exostoses, is a genetic disorder that causes the development of multiple, cartilage-covered tumors on the external surfaces of bones (osteochondromas). The osteochondromas typically become apparent during childhood or adolescence, and the number, size and location of osteochondromas varies from person to person. Signs and symptoms may include pain, decreased range of motion, nerve impingement, deformity, differences in limb length, short stature, and fractures. Osteochondromas of the ribs may cause complications such as a collapsed lung (pneumothorax), hemothorax, or pericardial effusion. Osteochondromas typically grow throughout childhood and stop growing when the growth plates close. However, they do recur later on in some people. While the vast majority of osteochondromas are benign (noncancerous), they may become malignant (cancerous) in adulthood in 2% to 5% of people with HMO.
Most cases of HMO are caused by a mutation in the EXT1 or EXT2 gene with autosomal dominant inheritance. About 96% of females with a mutation responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance), and 100% of males will develop osteochondromas.
Treatment depends on the locations and sizes of osteochondromas and the severity of symptoms they cause. Examples of treatment options include a "watch and wait" approach (when no symptoms are present), surgical removal of the tumor, corrective osteotomy, and growth plate arrest or limb-lengthening procedures. While benign osteochondromas generally do not affect life expectancy, they still may cause a variety of health problems and debilitating symptoms that can impair quality of life. Osteochondromas that become malignant (turning into chondrosarcomas or osteosarcomas) can be life-threatening, but the outlook in these cases may depend on the tumor grade.
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. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, lung and heart. 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
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Drugs for Hereditary Multiple Osteochondromas (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Genetic tests related to Hereditary Multiple Osteochondromas:
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MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:41
Bone,
Lung,
Heart,
Thyroid,
T Cells,
B Cells,
Myeloid
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Articles related to Hereditary Multiple Osteochondromas:(show all 30)
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Genes related to Hereditary Multiple Osteochondromas (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Hereditary Multiple Osteochondromas.
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Pathways related to Hereditary Multiple Osteochondromas according to KEGG:37
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Cellular components related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:
Biological processes related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:
Molecular functions related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:
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