MCID: HRD104
MIFTS: 43
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Hereditary Multiple Osteochondromas
Categories:
Bone diseases, Cancer diseases, Genetic diseases, Neuronal 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 [schmale et al 1994]. most published instances of reduced penetrance have occurred in females. however, comprehensive skeletal radiographs have not been performed in most of these instances.
Classifications:
MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases Anatomical: Neuronal diseases Bone diseases External Ids:
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MedlinePlus Genetics: 42 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.Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas.Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas). MalaCards based summary: Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to exostoses, multiple, type i and trichorhinophalangeal syndrome, type ii. An important gene associated with Hereditary Multiple Osteochondromas is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Mesodermal commitment pathway. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and lung. GARD: 19 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 genetic change in the EXT1 or EXT2 gene with autosomal dominant inheritance. About 96% of females with a genetic change responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance), and 100% of males will develop osteochondromas. Wikipedia: 75 Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...
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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Organs/tissues related to Hereditary Multiple Osteochondromas:
MalaCards :
Spinal Cord,
Bone,
Lung,
Bone Marrow,
Colon,
Endothelial,
Ovary
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Articles related to Hereditary Multiple Osteochondromas:(show top 50) (show all 941)
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ClinVar genetic disease variations for Hereditary Multiple Osteochondromas:5 (show top 50) (show all 547)
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Search
GEO
for disease gene expression data for Hereditary Multiple Osteochondromas.
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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:(show all 18)
Molecular functions related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:
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