Osteoporosis-pseudoglioma syndrome

Common Name(s)

Osteoporosis-pseudoglioma syndrome, Osteoporosis with pseudoglioma

Description for this condition is not yet available.
 

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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 10 free, full-text research articles on human participants. First 3 results:

Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.
 

Author(s): Karthik B Tallapaka, Prajnya Ranganath, Ashwin Dalal

Journal: Indian Pediatr. 2017 Aug;54(8):681-683.

 

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive genetic disorder characterised by congenital blindness and osteoporosis, caused by biallelic mutations in the LRP5 gene.

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.