Metachondromatosis
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Metachondromatosis
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| Metachondromatosis | |
|---|---|
| Classification and external resources | |
| OMIM | 156250 |
| DiseasesDB | 32116 |
Metachondromatosis is an autosomal dominant[1] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas. Affects mainly tubular bones, though can involve the vertebrae.
Genetics
Metachondromatosis is inherited in an autosomal dominant manner.[1] 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
- ^ a b Kennedy LA (July 1983). "Metachondromatosis" (PDF). Radiology 148 (1): 117–118. PMID 6602353. http://radiology.rsna.org/content/148/1/117.long.
- ^ Sobreira NL, Cirulli ET, Avramopoulos D, et al. (2010). "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene". PLoS Genet. 6 (6): e1000991. doi:10.1371/journal.pgen.1000991. PMC 2887469. PMID 20577567. http://dx.plos.org/10.1371/journal.pgen.1000991.
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