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Genetic and Rare Diseases Information Center (GARD)

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Osteogenesis imperfecta type 6


Other Names for this Disease

  • OI type 6
  • OI type VI
  • OI6
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Overview

Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily.  When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern.  Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.[1][2][3]
Last updated: 4/5/2012

References

  1. Homan E, et al. Mutations in SERPINF1 Cause Osteogenesis. Journal of Bone and Mineral Research. November 21, 2011; 26:2798-2803. http://onlinelibrary.wiley.com/doi/10.1002/jbmr.487/abstract. Accessed 3/27/2012.
  2. Osteogenesis Imperfecta, Type VI. Online Mendelian Inheritance in Man. February 2, 2012; http://omim.org/entry/613982. Accessed 3/28/2012.
  3. Becker J, et al. Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogensis Imperfecta. American Journal of Human Genetics. March 2011; 88(3):362-371. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059418/. Accessed 3/28/2012.
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Basic Information

  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteogenesis imperfecta type 6. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OI type 6
  • OI type VI
  • OI6
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.