Metachondromatosis
From Infogalactic: the planetary knowledge core
Metachondromatosis | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 156250 |
DiseasesDB | 32116 |
Patient UK | Metachondromatosis |
Metachondromatosis is an autosomal dominant[1]incompletely penetrant[2] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[2] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[3]
Genetics
Metachondromatosis is inherited in an autosomal dominant manner.[2] This means that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
It has been associated with PTPN11.[2]
References
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