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

[Lethal osteogenesis imperfecta: antenatal diagnosis].
 

Author(s): Houda El Mhabrech, Ahmed Zrig, Ines Mazhoud, Leila Njim, Aouatef Hajjeji, Raja Faleh, Ch Hafsa

Journal:

 

Osteogenesis imperfecta (OI) is a heterogeneous group of diseases affecting type I collagen and characterized by bone fragility. Lethal forms are rare and are characterized by micromelia associated with limb deformities. We report two cases of prenatally diagnosed lethal OI. Patients ...

Last Updated: 15 Mar 2017

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Urinary Cross-linked N-terminal Telopeptide of Type I Collagen Levels of Infants with Osteogenesis Imperfecta and Healthy Infants.
 

Author(s): Miho Yamashita, Kosei Hasegawa, Yousuke Higuchi, Takayuki Miyai, Ayumi Okada, Hiroyuki Tanaka, Hirokazu Tsukahara

Journal: Acta Med. Okayama. 2016 Dec;70(6):435-439.

 

The urinary cross-linked N-terminal telopeptide of type I collagen (uNTx) levels in infantile osteogenesis imperfecta (OI) have not been well studied. Here we investigated the levels of uNTx in infants with OI and healthy infants. We collected spot urine samples from 30 infants with ...

Last Updated: 22 Dec 2016

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Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
 

Author(s): Wayne A Cabral, Masaki Ishikawa, Matthias Garten, Elena N Makareeva, Brandi M Sargent, MaryAnn Weis, Aileen M Barnes, Emma A Webb, Nicholas J Shaw, Leena Ala-Kokko, Felicitas L Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S Blank, Joshua Zimmerberg, David R Eyre, Yoshihiko Yamada, Joan C Marini

Journal:

 

Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations in TMEM38B was identified. TMEM38B encodes the ER membrane monovalent cation ...

Last Updated: 22 Jul 2016

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

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

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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

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Bone Material Properties in Osteogenesis Imperfecta.
 

Author(s): Nick Bishop

Journal: J. Bone Miner. Res.. 2016 Apr;31(4):699-708.

 

Osteogenesis imperfecta entrains changes at every level in bone tissue, from the disorganization of the collagen molecules and mineral platelets within and between collagen fibrils to the macroarchitecture of the whole skeleton. Investigations using an array of sophisticated instruments ...

Last Updated: 9 Apr 2016

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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

Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta
 

Status: Not yet recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 23 Feb 2017

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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

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BBD Longitudinal Study of Osteogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 26 Oct 2016

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