Hereditary Multiple Osteochondromas

Alias:
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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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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3
16
160

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
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Gene & Mutation

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Mutations
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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