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

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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Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.
 

Author(s): Elizabeth A Streeten, Daniel McBride, Eric Puffenberger, Marc E Hoffman, Toni I Pollin, Patrick Donnelly, Paul Sack, Holmes Morton

Journal: Bone. 2008 Sep;43(3):584-90.

 

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder of severe juvenile osteoporosis and congenital blindness, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Approximately fifty cases of OPPG have been reported. ...

Last Updated: 18 Aug 2008

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Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.
 

Author(s): Dorit Lev, Inga Binson, A Joseph Foldes, Nathan Watemberg, Tally Lerman-Sagie

Journal: Isr. Med. Assoc. J.. 2003 Jun;5(6):419-21.

 

The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset blindness. Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The ...

Last Updated: 4 Jul 2003

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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

Growth Hormone for Osteoporosis Pseudoglioma Syndrome
 

Status: Not yet recruiting

Condition Summary: Osteoporosis Pseudoglioma Syndrome

 

Last Updated: 14 Jan 2013

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