Progressive osseous heteroplasia

Common Name(s)

Progressive osseous heteroplasia

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting.

The GNAS gene has a complex genomic imprinting pattern. In some cells of the body the maternal copy of the gene is active, while in others the paternal copy is active. Progressive osseous heteroplasia occurs when mutations affect the paternal copy of the gene. Thus, progressive heteroplasia is usually inherited from the father.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Progressive osseous heteroplasia" for support, advocacy or research.

Logo
Progressive Ossoeous Heteroplasia Association

POHA is a not-for-profit, 501(c)(3) corporation for the purpose of raising funds to support research to identify the cause of POH, develop effective treatments for POH and to find a POH cure.

Last Updated: 14 Jan 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 "Progressive osseous heteroplasia" for support, advocacy or research.

Logo
Progressive Ossoeous Heteroplasia Association

POHA is a not-for-profit, 501(c)(3) corporation for the purpose of raising funds to support research to identify the cause of POH, develop effective treatments for POH and to find a POH cure.

http://www.pohdisease.org

Last Updated: 14 Jan 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 "Progressive osseous heteroplasia" returned 6 free, full-text research articles on human participants. First 3 results:

Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia.
 

Author(s): Dana M Cairns, Robert J Pignolo, Tomoya Uchimura, Tracy A Brennan, Carter M Lindborg, Meiqi Xu, Frederick S Kaplan, Eileen M Shore, Li Zeng

Journal: J. Clin. Invest.. 2013 Aug;123(8):3624-33.

 

Progressive osseous heteroplasia (POH) is a rare developmental disorder of heterotopic ossification (HO) caused by heterozygous inactivating germline mutations in the paternal allele of the GNAS gene. Interestingly, POH lesions have a bewildering mosaic distribution. Using clinical, ...

Last Updated: 2 Aug 2013

Go To URL
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
 

Author(s): N S Adegbite, M Xu, F S Kaplan, E M Shore, R J Pignolo

Journal: Am. J. Med. Genet. A. 2008 Jul;146A(14):1788-96.

 

Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) ...

Last Updated: 23 Jun 2008

Go To URL
Progressive osseous heteroplasia: a rare case of late onset.
 

Author(s): R Seror, C Job-Deslandre, A Kahan

Journal: Rheumatology (Oxford). 2007 Apr;46(4):716-7.

 

Last Updated: 26 Mar 2007

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 "Progressive osseous heteroplasia" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.