Osteogenesis imperfecta

Overview

How common is osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the number of new people with a disorder or newly-diagnosed. One estimate places the incidence of all types of OI at 6 or 7 in 100,000 worldwide. The two mildest types of OI make up more than half of all people with the disorder. Both men and women are affected by this disorder, and it affects people of all races and ethnic backgrounds. Ninety percent of people with OI have a change (mutation) in one of two genes, either the COL1A1 gene or the COL1A2 gene.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/osteogenesis-imperfecta/overview/27299 • DATE UPDATED: 2017-04-14

References

Osteogenesis Imperfecta. The Genetics Home Reference website. Accessed April 6, 2017. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta

Osteogenesis Imperfecta. The National Organization for Rare Disorders website. Accessed April 6, 2017. https://rarediseases.org/rare-diseases/osteogenesis-imperfecta/

Osteogenesis Imperfecta. OrphaNet website. Accessed April 6, 2017. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=654

Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews website. Accessed April 6, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1295/

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