Osteoporosis-Pseudoglioma Syndrome

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OMIM 57 259770 Disease Ontology 12 DOID:0060849 ICD10 33 Q87.5 M80 M81 M82 M80.9 M81.9 M82.8 more MeSH 44 C536063 D010013 Orphanet 59 ORPHA2788 MESH via Orphanet 45 C536063

UMLS via Orphanet 74 C0432252 ICD10 via Orphanet 34 Q87.5 MedGen 42 C0432252 KEGG 37 H00451 SNOMED-CT via HPO 69 258211005 271611007 128306009 193570009 247053007 204108000 61142002 65956007 4229009 64859006 95709007 398151007 398152000 86765009 298181000 24228002 253549006 30288003 405773007 22640007 268029009 237836003 404675003 55457007 115240006 393564001 74532006 more UMLS 73 C0432252

Genetics Home Reference : ²⁵ 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).

MalaCards based summary : Osteoporosis-Pseudoglioma Syndrome, also known as oppg, is related to persistent hyperplastic primary vitreous and retinal detachment. 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 Wnt. The drugs Citric Acid and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are muscular hypotonia and cataract

UniProtKB/Swiss-Prot : ⁷⁵ 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.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2788Disease definitionOsteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.EpidemiologyThe estimated prevalence is 1/2 000 000.Clinical descriptionAdditional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.EtiologyThe disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).Visit the Orphanet disease page for more resources.

Disease Ontology : ¹² An autosomal recessive disease 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.

Description from OMIM: 259770

Clinical features from OMIM:

259770

Search NIH Clinical Center for Osteoporosis-Pseudoglioma Syndrome

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