Osteogenesis imperfecta type 5

Common Name(s)

Osteogenesis imperfecta type 5

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, {5:Sillence et al. (1979)} developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae ({166200}); perinatal lethal OI type II, also known as congenital OI ({166210}); OI type III, a progressively deforming form with normal sclerae ({259420}); and OI type IV, with normal sclerae ({166220}). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 ({120150}) and COL1A2 ({120160}). {2:Glorieux et al. (2000)} described a novel autosomal dominant form of OI, which they designated OI type V, in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by {1:Cho et al., 2012}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 5" 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 5" 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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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 5" returned 3 free, full-text research articles on human participants. First 3 results:

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
 

Author(s): Oliver Semler, Lutz Garbes, Katharina Keupp, Daniel Swan, Katharina Zimmermann, Jutta Becker, Sandra Iden, Brunhilde Wirth, Peer Eysel, Friederike Koerber, Eckhard Schoenau, Stefan K Bohlander, Bernd Wollnik, Christian Netzer

Journal: Am. J. Hum. Genet.. 2012 Aug;91(2):349-57.

 

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder associated with bone fragility and susceptibility to fractures after minimal trauma. OI type V has an autosomal-dominant pattern of inheritance and is not caused by mutations in the type I collagen ...

Last Updated: 13 Aug 2012

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A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
 

Author(s): Tae-Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, Su Jeong Song, Kyung Jin Kim, Daehyun Jeon, Gene Lee, Ha-Neui Kim, Hye Ran Lee, Hye-Hyun Eom, Zang Hee Lee, Ok-Hwa Kim, Woong-Yang Park, Sung Sup Park, Shiro Ikegawa, Won Joon Yoo, In Ho Choi, Jung-Wook Kim

Journal: Am. J. Hum. Genet.. 2012 Aug;91(2):343-8.

 

Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic ...

Last Updated: 13 Aug 2012

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Brainstem and cerebellar hypoplasia associated with osteogenesis imperfecta type-5.
 

Author(s): S Syamlal, S Shine, M Kunju

Journal: J Postgrad Med. ;52(2):152-3.

 

Last Updated: 8 May 2006

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

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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