Osteogenesis imperfecta

Common Name(s)

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta" for support, advocacy or research.

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Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

Last Updated: 15 Feb 2013

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Osteogenesis Imperfecta Foundation

We seek to improve the quality of life for people with OI through research to find treatments and a cure, education, awareness and mutual support.

Last Updated: 3 Dec 2012

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta" for support, advocacy or research.

Logo
Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

http://www.cbbf.org

Last Updated: 15 Feb 2013

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Osteogenesis Imperfecta Foundation

We seek to improve the quality of life for people with OI through research to find treatments and a cure, education, awareness and mutual support.

http://www.oif.org

Last Updated: 3 Dec 2012

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Osteogenesis imperfecta" returned 416 free, full-text research articles on human participants. First 3 results:

COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients.
 

Author(s): Carla M Kaneto, Patrícia S P Lima, Dalila L Zanette, Karen L Prata, João M Pina Neto, Francisco J A de Paula, Wilson A Silva

Journal:

 

The majority of Osteogenesis Imperfecta (OI) cases are caused by mutations in one of the two genes, COL1A1 and COL1A2 encoding for the two chains that trimerize to form the procollagen 1 molecule. However, alterations in gene expression and microRNAs (miRNAs) are responsible for the ...

Last Updated: 3 Jun 2014

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Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.
 

Author(s): Eric S Orwoll, Jay Shapiro, Sandra Veith, Ying Wang, Jodi Lapidus, Chaim Vanek, Jan L Reeder, Tony M Keaveny, David C Lee, Mary A Mullins, Sandesh C S Nagamani, Brendan Lee

Journal: J. Clin. Invest.. 2014 Feb;124(2):491-8.

 

Adults with osteogenesis imperfecta (OI) have a high risk of fracture. Currently, few treatment options are available, and bone anabolic therapies have not been tested in clinical trials for OI treatment.

Last Updated: 3 Feb 2014

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Mini-sternotomy approach for aortic valve replacement in a patient with osteogenesis imperfecta.
 

Author(s): Georgios Dimitrakakis, Jitendrakumar Rathod, Ulrich Otto von Oppell, Agamemnon Pericleous, Stephen Hutchison

Journal:

 

Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue. Cardiovascular involvement is rare, related mainly to aortic valve regurgitation. Open-heart surgery in these patients is associated with increased morbidity and mortality rates as a result of tissue friability ...

Last Updated: 16 Dec 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Osteogenesis imperfecta" returned 21 free, full-text review articles on human participants. First 3 results:

Treatment of osteogenesis imperfecta in adults.
 

Author(s): Katarina Lindahl, Bente Langdahl, Östen Ljunggren, Andreas Kindmark

Journal: Eur. J. Endocrinol.. 2014 Aug;171(2):R79-90.

 

Osteogenesis imperfecta (OI) is a heterogeneous rare connective tissue disorder commonly caused by mutations in the collagen type I genes. Pharmacological treatment has been most extensively studied in children, and there are only few studies comprising adult OI patients.

Last Updated: 30 Jun 2014

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New genes in bone development: what's new in osteogenesis imperfecta.
 

Author(s): Joan C Marini, Angela R Blissett

Journal: J. Clin. Endocrinol. Metab.. 2013 Aug;98(8):3095-103.

 

Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility and deformity and growth deficiency. Most cases of OI (classical types) have autosomal dominant inheritance and are caused by mutations in the type I collagen genes. During the past several ...

Last Updated: 7 Aug 2013

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[Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
 

Author(s): Anna Galicka

Journal:

 

 Recent investigations revealed that the "brittle bone" phenotype in osteogenesis imperfecta (OI) is caused not only by dominant mutations in collagen type I genes, but also by recessively inherited mutations in genes responsible for the post-translational processing of type I procollagen ...

Last Updated: 18 Jun 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Dwarfism; Osteogenesis Imperfecta

 

Last Updated: 14 Mar 2014

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Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 21 Oct 2012

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Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 23 Jun 2014

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