Metachondromatosis Classification and external resources OMIM 156250 DiseasesDB 32116
Metachondromatosis is an autosomal dominant skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas. Affects mainly tubular bones, though can involve the vertebrae.
Metachondromatosis is inherited in an autosomal dominant manner. 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.
- ^ 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.
Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulatorsGTPase-activating protein G proteinARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3) MAP kinase Other kinase/phosphatase Signal transducing adaptor proteins Other 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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