Osteogenesis imperfecta type 1

Common Name(s)

Osteogenesis imperfecta type 1

Osteogenesis imperfecta (OI) is a genetic disorder that mainly affects the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 1" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 1" 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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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 type 1" returned 40 free, full-text research articles on human participants. First 3 results:

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.
 

Author(s): Hong-Yan Liu, Jia Huang, Dong Wu, Tao Li, Liang-Jie Guo, Qian-Nan Guo, Hong-Dan Wang, Rui-Li Wang, Yue Wang

Journal: Chin. Med. J.. 2016 Jan;129(1):88-91.

 

Last Updated: 29 Dec 2015

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Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.
 

Author(s): Elena Makareeva, Wayne A Cabral, Joan C Marini, Sergey Leikin

Journal: J. Biol. Chem.. 2006 Mar;281(10):6463-70.

 

We demonstrate that 85 N-terminal amino acids of the alpha1(I) chain participate in a highly stable folding domain, acting as the stabilizing anchor for the amino end of the type I collagen triple helix. This anchor region is bordered by a microunfolding region, 15 amino acids in ...

Last Updated: 6 Mar 2006

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The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.
 

Author(s): W G Cole, C W Chow, J F Bateman, D O Sillence

Journal: J. Med. Genet.. 1996 Nov;33(11):965-7.

 

The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, ...

Last Updated: 13 Mar 1997

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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 type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804
 

Status: Recruiting

Condition Summary: Osteogenesis Imperfecta, Type I; Osteogenesis Imperfecta Type III; Osteogenesis Imperfecta Type IV

 

Last Updated: 7 Sep 2017

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An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta
 

Status: Not yet recruiting

Condition Summary: Osteogenesis Imperfecta

 

Last Updated: 12 Jul 2017

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