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Details for phenotype: osteoporosis

EndoNet ID: ENP00500



General information

This phenotype is pathologic
  • Osteoporosis is characterized by the loss of bone mass and strength that leads to fragility fractures. [1]

Links to other resources

OMIM 166710
Medline Plus 000360
MeSH term D010024
Disease database 9385

Phenotype triggers

  • calcitonin receptor
    in osteoclast
    • The discovery that calcitonin is a selective inhibitor of osteoclastic activity more than 40 years ago led to the concept that calcitonin deficiency might be the cause of osteoporosis and that its administration might be the cure. [1]
  • more activity (high ligand concentration, overexpression) of glucocorticoid receptor
    in macrophage
    • Glucocorticoids suppress osteoblast activity in vivo. [2]
    • Glucocorticoid signalling via GR inhibits proliferation of osteoclastogenic cells, apoptosis of mature osteoclasts and osteoclast function in vitro and in vivo, by altering the activity rather than the number of osteoclasts. Glucocorticoid-induced bone mass reduction is not only mediated by directly inhibiting osteoblasts, but also by inhibiting osteoclast activity, which in turn disrupts the remodelling cycle and suppresses osteoblast activity . [3]
  • VDR
    in bone
    • The primary form of circulating vitamin D, 25-hydroxy-vitamin D, is a modifiable quantitative trait associated with multiple medical outcomes, including osteoporosis. [4]