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
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). 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.Osteogenesis imperfecta type IV (OI type IV) is a type of
Last updated: 1/14/2016
- 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.
- Eric T Rush, MD, FAAP, FACMG. Genetics of Osteogenesis Imperfecta. Medscape Reference. October 2014; http://emedicine.medscape.com/article/947588-overview.
- John F Beary, III, MD; Arkadi A Chines, MD. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate. December 2015; Accessed 1/14/2016.
- Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta type IV. This website is maintained by the National Library of Medicine.
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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.