Osteoporosis-pseudoglioma syndrome

Common Name(s)

Osteoporosis-pseudoglioma syndrome, Osteoporosis with pseudoglioma

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteoporosis-pseudoglioma syndrome" 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 "Osteoporosis-pseudoglioma syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure.
 

Author(s): Elizabeth A Streeten, Sheila Ramirez, Myrto Eliades, Sarada Jaimungal, Sruti Chandrasekaran, Ryan Kathleen, D Holmes Morton, Erik G Puffenberger, Rita Herskovitz, Mary B Leonard

Journal: Bone. 2015 Aug;77():17-23.

 

Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder of childhood osteoporosis and blindness due to inactivating mutations in LDL receptor-like protein 5 (LRP5). We and others have reported improvement in areal bone mineral density (aBMD) by DXA in OPPG ...

Last Updated: 27 May 2015

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Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.
 

Author(s): Nerea Alonso, Dinesh C Soares, Eugene V McCloskey, Gregory D Summers, Stuart H Ralston, Celia L Gregson

Journal: J. Bone Miner. Res.. 2015 Apr;30(4):615-20.

 

Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive condition of congenital blindness and severe childhood osteoporosis with skeletal fragility, caused by loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. We report ...

Last Updated: 26 Mar 2015

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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
 

Author(s): C M Laine, B D Chung, M Susic, T Prescott, O Semler, T Fiskerstrand, P D'Eufemia, M Castori, M Pekkinen, E Sochett, W G Cole, C Netzer, O Mäkitie

Journal: Eur. J. Hum. Genet.. 2011 Aug;19(8):875-81.

 

Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Heterozygous carriers exhibit a milder ...

Last Updated: 21 Jul 2011

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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 "Osteoporosis-pseudoglioma syndrome" 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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