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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Enchondromatosis


High impact information on Enchondromatosis


Chemical compound and disease context of Enchondromatosis


Gene context of Enchondromatosis

  • These results indicate that the PTHR1 gene is not, in contrast to previous suggestions, the culprit for enchondromatosis [9].
  • Mutations of the PTH/PTHrP receptor have been identified in Jansen metaphyseal chondrodysplasia, Blomstrand's lethal chondrodysplasia, and enchondromatosis [10].


  1. Absence of IHH and retention of PTHrP signalling in enchondromas and central chondrosarcomas. Rozeman, L.B., Hameetman, L., Cleton-Jansen, A.M., Taminiau, A.H., Hogendoorn, P.C., Bovée, J.V. J. Pathol. (2005) [Pubmed]
  2. Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma. Tsuchiya, T., Osanai, T., Ogose, A., Tamura, G., Chano, T., Kaneko, Y., Ishikawa, A., Orui, H., Wada, T., Ikeda, T., Namba, M., Takigawa, M., Kawashima, H., Hotta, T., Tsuchiya, A., Ogino, T., Motoyama, T. Cancer Genet. Cytogenet. (2005) [Pubmed]
  3. A mutant PTH/PTHrP type I receptor in enchondromatosis. Hopyan, S., Gokgoz, N., Poon, R., Gensure, R.C., Yu, C., Cole, W.G., Bell, R.S., Jüppner, H., Andrulis, I.L., Wunder, J.S., Alman, B.A. Nat. Genet. (2002) [Pubmed]
  4. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Duchatelet, S., Ostergaard, E., Cortes, D., Lemainque, A., Julier, C. Hum. Mol. Genet. (2005) [Pubmed]
  5. Developmental pathways in musculoskeletal neoplasia: involvement of the Indian Hedgehog-parathyroid hormone-related protein pathway. Tiet, T.D., Alman, B.A. Pediatr. Res. (2003) [Pubmed]
  6. Intracavernous chondrosarcoma associated with Ollier's disease. Brazier, D.J., Roberts-Harry, J., Crockard, A. The British journal of ophthalmology. (1993) [Pubmed]
  7. Ollier's disease: characteristic Tc-99m MDP scan features. Trikha, V., Gupta, V., Kumar, R. Clinical nuclear medicine. (2003) [Pubmed]
  8. Proteoglycans and chondroitin sulfates from human multiple chondroma (enchondromatosis). Michelacci, Y.M., Laredo, J., Dietrich, C.P. Braz. J. Med. Biol. Res. (1981) [Pubmed]
  9. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Rozeman, L.B., Sangiorgi, L., Briaire-de Bruijn, I.H., Mainil-Varlet, P., Bertoni, F., Cleton-Jansen, A.M., Hogendoorn, P.C., Bovée, J.V. Hum. Mutat. (2004) [Pubmed]
  10. PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development. Schipani, E., Provot, S. Birth Defects Res. C Embryo Today (2003) [Pubmed]
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