Osteoporosis-Pseudoglioma Syndrome (OPPG)

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Disease Ontology 12 DOID:0060849 OMIM® 57 259770 KEGG 36 H00451 MeSH 44 C536063 D010013 NCIt 50 C130998 SNOMED-CT 67 254112001 MESH via Orphanet 45 C536063

ICD10 via Orphanet 33 Q87.5 UMLS via Orphanet 71 C0432252 Orphanet 58 ORPHA2788 MedGen 41 C0432252 SNOMED-CT via HPO 68 113194005 115240006 128306009 162294008 193570009 204108000 204164000 224958001 22640007 229721007 237836003 24228002 247053007 253549006 25506007 258211005 268029009 271611007 271706000 27911000 29164008 298181000 298203008 30288003 312894000 360455002 392288006 393564001 397541004 397542006 398151007 398152000 404675003 405773007 413921009 42059000 4229009 4294006 430099007 55457007 61142002 62415009 64634000 64635004 64859006 65956007 74532006 78441005 86765009 90145001 95486002 95709007 95735008 more UMLS 70 C0432252

MedlinePlus Genetics : ⁴³ 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 (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).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 (the retina), 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.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.

MalaCards based summary : Osteoporosis-Pseudoglioma Syndrome, also known as oppg, is related to retinal detachment and vitreoretinopathy. An important gene associated with Osteoporosis-Pseudoglioma Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Wnt signaling pathway and Signaling by GPCR. The drugs Sodium citrate and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, and related phenotypes are osteoporosis and increased susceptibility to fractures

Disease Ontology : ¹² A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has material basis in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2788 Definition Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Epidemiology The estimated prevalence is 1/2 000 000. 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. Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ).

KEGG : ³⁶ Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 causes OPPG.

UniProtKB/Swiss-Prot : ⁷² Osteoporosis-pseudoglioma syndrome: A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.

More information from OMIM: 259770

Clinical features from OMIM®:

259770 (Updated 20-May-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.17	FZD4 KREMEN1 LDLR LRP5 LRP6 VLDLR

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

Search GEO for disease gene expression data for Osteoporosis-Pseudoglioma Syndrome.