Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 09-11-2018
Symbol OIDP
Location 17q21.2
Name osteogenesis imperfecta deforming progressive
Other name(s) Osteogenesis imperfecta, type XI
Corresponding gene FKBP10
Other symbol(s) OI11
Main clinical features
  • moderate to severe osteogenesis imperfecta with low bone density, bone fragility, deformities and scoliosis due to vertebral compression and platyspondyly
  • no blue sclerae, no dentinogenesis imperfecta, under polarized light bone histology ressembled OI type VI
  • Genetic determination autosomal recessive
    Related entries including OI6
    Function/system disorder osteo-articular
    Type disease
  • absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix (PMID: 22718341))