Metachondromatosis
From Wikipedia, the free encyclopedia
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.
[edit] Genetics
Metachondromatosis has an autosomal dominant pattern of
inheritance.
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]
[edit] References
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Deficiencies of intracellular signaling peptides and proteins
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| GTP-binding protein regulators |
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| G protein |
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| MAP kinase |
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| Other kinase/phosphatase |
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| Signal transducing adaptor proteins |
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| Other |
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see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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