Osteopetrosis autosomal dominant type 2

Common Name(s)

Osteopetrosis autosomal dominant type 2

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteopetrosis autosomal dominant type 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Osteopetrosis autosomal dominant type 2" returned 1 free, full-text research articles on human participants. First 3 results:

Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties.
 

Author(s): Kang Chu, Richard Snyder, Michael J Econs

Journal: J. Bone Miner. Res.. 2006 Jul;21(7):1089-97.

 

Asymptomatic gene carriers and clinically affected ADO2 subjects have the same ClCN7 mutation. We examined osteoclastic bone resorption in vitro as well as osteoclast formation, several markers, acid secretion, and cytoskeletal structure. We found that ADO2 expression results from ...

Last Updated: 3 Jul 2006

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Reviews from the PubMed Database

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The terms "Osteopetrosis autosomal dominant type 2" 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

Use of ACTIMMUNE in Patients With ADO2
 

Status: Not yet recruiting

Condition Summary: Autosomal Dominant Osteopetrosis Type 2

 

Last Updated: 21 Oct 2015

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