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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteogenesis imperfecta type IV


Other Names for this Disease
  • OI type 4
  • Osteogenesis imperfecta with normal sclerae
  • OI type IV
  • Common variable OI with normal sclerae
Related Diseases
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Overview

Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. OI type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye).[1][2][3] OI type IV is caused by changes (mutations) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner. There is currently no cure for OI type IV. Treatment is supportive and based on the signs and symptoms present in each person.[1]
Last updated: 1/14/2016

References

  1. Robert D Steiner, MD, Jessica Adsit, MS, CGC, and Donald Basel, MD. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1295/#oi.Clinical_Description.
  2. Eric T Rush, MD, FAAP, FACMG. Genetics of Osteogenesis Imperfecta. Medscape Reference. October 2014; http://emedicine.medscape.com/article/947588-overview.
  3. John F Beary, III, MD; Arkadi A Chines, MD. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate. December 2015; Accessed 1/14/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta type IV. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • 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.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Osteogenesis Imperfecta
    Genetics of Osteogenesis Imperfecta
  • Online Mendelian Inheritance in Man (OMIM) is a 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 IV. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OI type 4
  • Osteogenesis imperfecta with normal sclerae
  • OI type IV
  • Common variable OI with normal sclerae
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.