Skip to main content
  • Main menu
  • Home
  • About us
    • About IOF
    • The Board
    • The Executive Committee
    • Regional Representation
    • The Committees
    • The Staff
    • Annual Report
    • Contact us
  • What we do
    • Science & Research
      • Latest News
      • Capture the Fracture®
      • Latest Projects
      • Working Groups
      • Osteoporosis Essentials Course
      • Journals
      • FRAX®
      • Awards
    • Policy & Advocacy
      • Latest News
      • World Osteoporosis Day
      • IOF Global Patient Charter
      • Improve your knowledge
      • IOF Compendium of Osteoporosis
    • Meetings & Events
    • Education
  • Educational hub
  • Thematic menu
  • Patients
    • Patients Homepage
    • IOF Osteoporosis Risk Check
    • About Osteoporosis
    • Prevention
    • Diagnosis
    • Treatment
    • Facts & Statistics
    • World Osteoporosis Day
    • Patient Stories
    • Find your National Society
    • IOF Global Patient Charter
    • Subscribe to our Newsletter
  • Health Professionals
    • Health Professionals Homepage
    • Latest News
    • Osteoporosis
      • About Osteoporosis
      • Prevention
      • Diagnosis
      • Treatment
    • Fragility Fractures
      • About
      • Epidemiology
      • Vertebral Fractures
      • Treatment & Surgery
      • Models of Care
      • Falls Prevention
    • Facts & Statistics
    • Capture the Fracture®
    • FRAX
    • Osteoporosis Essentials Course
    • Meetings & Events
    • Articles & Position Papers
    • Educational Materials
    • Research Tools
    • Patient Resources
    • Journals
    • Skeletal Rare Disorders
  • Policy Makers
    • Policy Makers Homepage
    • Burden of Osteoporosis
    • Facts & Statistics
    • Fracture Liaison Services (FLS)
    • IOF Global Patient Charter
    • Policy Reports & Audits
    • IOF Alliances
    • World Osteoporosis Day
    • Patient Stories
  • Our Network
    • Our Network Homepage
    • The Committees
    • Fracture Liaison Services (FLS)
    • Latest News
    • IOF Alliances
    • Corporate Partners
    • Subscribe to our Newsletter
  • IOF Platforms
  • Capture the Fracture®
  • World Osteoporosis Day
  • Osteoporosis Essentials
  • Latin America

IOF International Osteoporosis Foundation

  1. Home
  2. Health professionals
  3. Skeletal rare disorders
  4. Disorders of LRP5 - Van Buchem

Social menu

  • Facebook
  • Twitter
  • LinkedIn
  • Instagram
  • YouTube
Donate
  1. Home
  2. Health professionals
  3. Skeletal rare disorders
  4. Disorders of LRP5 - Van Buchem
  • Disorders of the rank/rankl/opg system
  • Disorders of glycosylphosphatidylinositol
  • Disorders of LRP5
  • Disorders of Bone Morphogenetic

MUTATED BONE MICROENVIROMENT REGULATORS (CYTOKINES & GROWTH FACTORS)

Van Buchem disease type 2, autosomal dominant (VBCH2)

Van Buchem disease type 2, autosomal dominant, is sclerosing bone dysplasia, that  can be caused by mutation in the Low-Density Lipoprotein Receptor-Related Protein-5 (LRP5) gene (see also VBD).

(OMIM #607636)

Van Buchem disease type 2, autosomal dominant, is sclerosing bone dysplasia, that  can be caused by mutation in the Low-Density Lipoprotein Receptor-Related Protein-5 (LRP5) gene (see also VBD).

Gene

LRP5 gene, 11q13.2 (OMIM gene/locus number *603506)

Phenotype

Increased bone density, mostly asymptomatic, associated with osteosclerosis of the skull, increased calvarial thickness, enlarged and squared jaw (decreased gonial angle), enlarged mandible, cranial nerve compression, sensorineural hearing loss (otopharyngeal exostosis), and thickened cortices of long bones.

REFERENCES

1.
Van Wesenbeeck L, Cleiren E, Gram J, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. Epub 2003 Feb 10.
2.
de Vernejoul MC. Sclerosing bone disorders. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):71-83.
3.
de Vernejoul MC, Kornak U. Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Ann N Y Acad Sci. 2010 Mar;1192:269-77.
4.
Ihde LL, Forrester DM, Gottsegen CJ, et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics. 2011 Nov-Dec;31(7):1865-82.
5.
Masi L, Agnusdei D, Bilezikian J et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Jun 13
6.
See Link
9, rue Juste-Olivier
CH-1260 Nyon - Switzerland
+41 22 994 0100
info@osteoporosis.foundation
Follow us
  • Facebook
  • Twitter
  • LinkedIn
  • Instagram
  • YouTube
© 2021 International Osteoporosis Foundation
Cookie Policy - Privacy policy