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<span>Osteoporosis-pseudoglioma syndrome</span>
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<h1>Osteoporosis-pseudoglioma syndrome</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (<a class="image-modal" data-alt="Comparison of a normal spine, which is straight, with a spine with scoliosis, which curves side-to-side." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000T0_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000T0" data-sourceurl="" data-title="Normal spine and spine with scoliosis" href="https://medlineplus.gov/images/PX0000T0_PRESENTATION.jpeg" id="PX0000T0_1" title="Show image">scoliosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).</p><p>Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (<a class="image-modal" data-alt="Two-panel drawing shows the outside and inside of the eye. The top panel shows outside of the eye including the eyelid, pupil, sclera, and iris; the bottom panel shows inside of the eye including the cornea, lens, ciliary body, retina, choroid, optic nerve, and vitreous humor." data-caption="Anatomy of the eye, showing the outside and inside of the eye including the eyelid, pupil, sclera, iris, cornea, lens, ciliary body, retina, choroid, vitreous humor, and optic nerve." data-credit="© 2007 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001TP_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001TP" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7161" data-title="Eye anatomy" href="https://medlineplus.gov/images/PX0001TP_PRESENTATION.jpeg" id="PX0001TP_2" title="Show image">the retina<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.</p><p>Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Osteoporosis-pseudoglioma syndrome is caused by mutations in the <i><a data-pid="18131" href="https://medlineplus.gov/genetics/gene/lrp5/">LRP5</a></i> gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina.</p><p><i>LRP5</i> gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with Osteoporosis-pseudoglioma syndrome</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/lrp5/">LRP5</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>Osteoporosis-pseudoglioma syndrome is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the <i><a data-pid="18131" href="https://medlineplus.gov/genetics/gene/lrp5/">LRP5</a></i> gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some carriers may have decreased bone mineral density.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>OPPG</li> <li>Osteogenesis imperfecta, ocular form</li>
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</ul>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
|
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<div class="mp-content">
|
||
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||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0432252/" target="TheNewWin">Genetic Testing Registry: Osteoporosis with pseudoglioma</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
</section>
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<section>
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<div class="mp-content">
|
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|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/4160/index" target="TheNewWin">Osteoporosis-pseudoglioma syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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|
||
</section>
|
||
|
||
<section>
|
||
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|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
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|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Osteoporosis-pseudoglioma syndrome%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/259770" target="TheNewWin">OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28osteoporosis-pseudoglioma+syndrome%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+2520+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Ai M, Heeger S, Bartels CF, Schelling DK; Osteoporosis-Pseudoglioma
|
||
Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma
|
||
syndrome. Am J Hum Genet. 2005 Nov;77(5):741-53. doi: 10.1086/497706. Epub 2005
|
||
Sep 27. <a href="https://pubmed.ncbi.nlm.nih.gov/16252235" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1271384/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy
|
||
T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S,
|
||
Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton
|
||
P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B,
|
||
De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner
|
||
H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E,
|
||
Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E,
|
||
Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul
|
||
W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML;
|
||
Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-related
|
||
protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov
|
||
16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. <a href="https://pubmed.ncbi.nlm.nih.gov/11719191" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Levasseur R, Lacombe D, de Vernejoul MC. LRP5 mutations in
|
||
osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone
|
||
Spine. 2005 May;72(3):207-14. doi: 10.1016/j.jbspin.2004.10.008. <a href="https://pubmed.ncbi.nlm.nih.gov/15850991" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY,
|
||
Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G,
|
||
Emi M, Hasegawa T. Various types of LRP5 mutations in four patients with
|
||
osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion
|
||
using oligonucleotide tiling microarray. Am J Med Genet A. 2010
|
||
Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177. <a href="https://pubmed.ncbi.nlm.nih.gov/20034086" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Tuysuz B, Bursali A, Alp Z, Suyugul N, Laine CM, Makitie O.
|
||
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and
|
||
response to bisphosphonate treatment. Horm Res Paediatr. 2012;77(2):115-20. doi:
|
||
10.1159/000336193. Epub 2012 Mar 23. <a href="https://pubmed.ncbi.nlm.nih.gov/22456437" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
||
|
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