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.

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.

Last Updated: 15 Feb 2013

View Details
Logo
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

View Details
werathah

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

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details
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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 553 free, full-text research articles on human participants. First 3 results:

Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta.
 

Author(s): Mingrui Jia, Ranran Shi, Xuli Zhao, Zhijian Fu, Zhijing Bai, Tao Sun, Xuejun Zhao, Wenbo Wang, Chao Xu, Fang Yan

Journal: Medicine (Baltimore). 2017 Sep;96(39):e7783.

 

Mutation analysis as the gold standard is particularly important in diagnosis of osteogenesis imperfecta (OI) and it may be preventable upon early diagnosis. In this study, we aimed to analyze the clinical and genetic materials of an OI pedigree as well as to confirm the deleterious ...

Last Updated: 27 Sep 2017

Go To URL
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.
 

Author(s): Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karacan

Journal:

 

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 ...

Last Updated: 14 Sep 2017

Go To URL
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports.
 

Author(s): Ali Al Kaissi, Christian Windpassinger, Farid Ben Chehida, Maher Ben Ghachem, Nabil M Nassib, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Sergey Ryabykh, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher

Journal: Medicine (Baltimore). 2017 Sep;96(35):e7863.

 

The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored ...

Last Updated: 31 Aug 2017

Go To URL

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 33 free, full-text review articles on human participants. First 3 results:

WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH.
 

Author(s): Danubia C Sá-Caputo, Carla da F Dionello, Éric Heleno F F Frederico, Laisa L Paineiras-Domingos, Cintia Renata Sousa-Gonçalves, Danielle S Morel, Eloá Moreira-Marconi, Marianne Unger, Mario Bernardo-Filho

Journal:

 

Patients with osteogenesis imperfecta (OI) have abnormal bone modelling and resorption. The bone tissue adaptation and responsivity to dynamic and mechanical loading may be of therapeutic use under controlled circumstances. Improvements due to the wholebody vibration (WBV) exercises ...

Last Updated: 8 May 2017

Go To URL
TRIC-B Mutations Causing Osteogenesis Imperfecta.
 

Author(s): Atsuhiko Ichimura, Hiroshi Takeshima

Journal: Biol. Pharm. Bull.. 2016 ;39(11):1743-1747.

 

Trimeric intracellular cation (TRIC) channel subtypes, namely TRIC-A and TRIC-B, are expressed in the endoplasmic/sarcoplasmic reticulum and nuclear envelope, and likely function as monovalent cation channels in various cell types. Our studies using knockout mice so far suggest that ...

Last Updated: 2 Nov 2016

Go To URL
Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.
 

Author(s): Pietro Persiani, Filippo Maria Ranaldi, Lorena Martini, Anna Zambrano, Mauro Celli, Patrizia D'Eufemia, Ciro Villani

Journal: Medicine (Baltimore). 2016 Aug;95(31):e4505.

 

Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of ...

Last Updated: 6 Aug 2016

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 14 Sep 2017

Go to URL
The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 6 Jan 2017

Go to URL

Last Updated: 3 Jul 2017

Go to URL