They presented in infancy with visual impairment and psychomotor retardation. [ncbi.nlm.nih.gov]

We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss. [bone-abstracts.org]

Treatment Treatment Options: Bone fractures need to be repaired and glaucoma treated when present. Bisphosphonate treatment may lead to increased bone density if initiated early. [disorders.eyes.arizona.edu]

• Short Stature

  The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. [ncbi.nlm.nih.gov]

  stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of >20x. [order.radboudumc.nl]

  From Genetics associated with mutations in LRP5 gene ( low density lipoprotein receptor-related protein-5) Clinical-manifestations short stature osteoporosis spontaneous fractures kyphoscoliosis hyperextensible joints microcephaly normal intelligence [anvita.info]

  Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. [orpha.net]

  Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. [uniprot.org]

• Turkish

  We present three novel homozygous LRP5 mutations found in 3 unrelated Turkish children with consanguineous parents, along with clinical phenotypes and response to treatment with bisphosphonates (bisP). [ncbi.nlm.nih.gov]

  Conclusion: We report three novel LRP5 mutations in 3 Turkish patients with OPPG. [karger.com]

  The mutation was present in the heterozygous state in the patients’ parents and was absent on 100 chromosomes from healthy Turkish controls. [nature.com]

• Barrel Chest

  Showing of 23 | Percent of people who have these symptoms is not available through HPO Absent anterior chamber of the eye 0008037 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Blindness 0000618 Cataract Clouding of the [rarediseases.info.nih.gov]

• Skin Lesion

  Examination at age 20 showed normal growth parameters with no dysmorphic features or skin lesions, no neurologic abnormalities, and normal cognitive functions. However, he had a pigeon-chest deformity and kyphosis. [cags.org.ae]

• Hearing Impairment

  / blindness > Osteoporosis-pseudoglioma syndrome (OPPG) This product is also part of the following panels: WES hearing impairment (97.9% **) WES Mendelian inherited disorders (97.9% **) WES renal disorders (97.9% **) WES short stature/skeletal dysplasia [order.radboudumc.nl]

  There is also intellectual and speech delay, short stature, but no hearing impairment. His mother is currently 5 months pregnant and has been counselled that future children have a 25% chance of being affected with OPS. [bjo.bmj.com]

• Osteoporosis

  KEYWORDS: Bisphosphonate; Bone; LRP5; OPPG; Osteoporosis-pseudoglioma; Osteoporosis-pseudoglioma syndrome [ncbi.nlm.nih.gov]

  ( 11561553 ) Wilson G....Allgrove J. 2001 35 Osteoporosis pseudoglioma syndrome: treatment of spinal osteoporosis with intravenous bisphosphonates. ( 10969269 ) Zacharin M....Cundy T. 2000 36 Osteoporosis pseudoglioma syndrome. ( 10713847 ) Shaharao [malacards.org]

  Background: Osteoporosis-pseudoglioma syndrome is a very rare disease mainly characterized by severe eye abnormalities and osteoporosis but also causing a broader range of clinical features. [moh-it.pure.elsevier.com]

  Entry H00451 Disease Name Osteoporosis-pseudoglioma syndrome Description Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. [genome.jp]

• Muscle Hypotonia

  Gene LRP5 gene, 11q13.1 (OMIM gene/locus number *603506 ) Phenotype Blindness, microphthalmia, vitreoretinal abnormalities, cataract, phthisis bulbi, absent anterior eye chamber, iris atrophy, pseudoglyoma, muscle hypotonia, obesity, mental retardation [iofbonehealth.org]

• Anger

  University, Angers, France c Rheumatology department, Angers Teaching Hospital, 49933 Angers cedex 9, France d Paris Descartes University, Rheumatology A department, Cochin Hospital, APHP, Paris, France e U.V.S.Q University, Biochemistry, hormonology [em-consulte.com]

  University, Angers, Francey department, Angers Teaching Hospital, 49933 Angers cedex 9, Francees University, Rheumatology A department, Cochin Hospital, APHP, Paris, Francersity, Biochemistry, hormonology and molecular genetics department, Ambroise Par [docslide.com.br]

• Generalized Seizure

  At age 4 years, he had febrile convulsions followed by recurrent non-febrile complex partial seizures. At age 17 he was reexamined because of an episode of generalized seizures. [cags.org.ae]

• Chloride Increased

  Clement- Lacroix P, Ai M, Morvan F, Roman-Roman S et al. (2005) Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice. [link.springer.com]

• Dyslipidemia

  The link between LRP5 mutations, hyperglycemia through β -cell dysfunction and dyslipidemia has been investigated in animal studies and in a large OPPG family. 12, 38 Diabetes does not seem to be a common complication in OPPG; however, glucose tolerance [nature.com]

We conclude that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives. [ncbi.nlm.nih.gov]

1 Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. ( 30499050 ) 2018 2 Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. ( 28145787 ) Maltese P....Bertelli [malacards.org]

Treatment: Bisphosphonate treatment can improve bone density, and should be started early. The importance of trauma avoidance should be emphasized for all patients. Vitamin D insufficiency should be treated. [wohproject.org]

Treatment Treatment Options: Bone fractures need to be repaired and glaucoma treated when present. Bisphosphonate treatment may lead to increased bone density if initiated early. [disorders.eyes.arizona.edu]

Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies. [ncbi.nlm.nih.gov]

Diagnosis and Prognosis: This condition requires ophthalmologic, pediatric, and orthopedic collaboration for diagnosis. Orthopedic repair is indicated for fractures and scoliosis. [disorders.eyes.arizona.edu]

[…] testing related to Osteoporosis-pseudoglioma syndrome: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests * Osteoporosis & Bone Health: Home Testing: o Home Osteoporosis Tests o Home Bone Loss Tests Prognosis [checkorphan.org]

PROGNOSIS: Long term follow-up is lacking in this rare disorder. However, repeated fractures can lead to deformity disabilities. [wohproject.org]

Etiology LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype ( 12579474 ) References Audrey Koay M, Brown MA. [humpath.com]

While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this disease. [sparrho.com]

Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ). The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ). Last updated: 3/7/2006 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Summary Epidemiology The estimated prevalence is 1/2 000 000. [orpha.net]

On this page: Article: Epidemiology Pathology Radiographic features References This disease is encountered in approximately 1 in 2 million births. [radiopaedia.org]

The book is structured such that, in the first section, an overview is provided on what is meant by the terms bone health and osteoporosis and includes key areas such as epidemiology, genetics and the impact of non-nutritional exogenous factors influencing [books.google.com]

Epidemiology The estimated prevalence is 1/2 000 000. [rarediseases.info.nih.gov]

Identification of the Wnt/beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma [ncbi.nlm.nih.gov]

Identification of the Wnt/ beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma [wikigenes.org]

[…] blindness in Mexico, Mexico, Mexico Mariana Escalante-Castañón Genetics, Association to prevent blindness in Mexico, Mexico, Mexico Cristina Villanueva-Mendoza Genetics, Association to prevent blindness in Mexico, Mexico, Mexico Footnotes Commercial [iovs.arvojournals.org]

New Royal Society of Chemistry, 2003 - 755 من الصفحات Nutritional Aspects of Bone Health provides an in-depth review of the role of diet in the development and maintenance of bone health throughout the lifecycle, and prevention of osteoporosis in later [books.google.com]

The G171V mutation prevents Dkk from binding to LRP5, thereby increasing LRP5 function; the result is high bone mass due to uncoupling of bone formation and resorption. The Z-scores in this condition can exceed +6 at the hip and spine. [ncbi.nlm.nih.gov]

These drugs have helped the bone strength in OPPG somewhat but have not prevented all fractures. [clinicaltrials.gov]