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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-10-2016
Symbol COPO
Location Xq23
Name childhood-onset primary osteoporosis
Other name(s) bone mineral density QTL18, osteoporosis
Corresponding gene PLS3
Other symbol(s) BMND18
Main clinical features
  • osteoporosis and fractures of the axial and appendicular skeleton developing in childhood in male , whereas the clinical picture in heterozygous women ranged from normal bone density and an absence of fractures to early-onset osteoporosis and vertebral compression fractures on x-ray; also joint hypermobility, but no other features of osteogenesis imperfecta
  • Genetic determination sex linked
    Function/system disorder osteo-articular
    Type disease
    Remark(s)