{"orpha":2788,"name":"Osteoporosis-pseudoglioma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OPPG"],"definition":"A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2788/","orphanet_url":"https://www.orpha.net/en/disease/detail/2788","names":{"fr":{"name":"Syndrome d'ostéoporose-pseudogliome","synonyms":["OPPG"],"definition":"Maladie osseuse rare à transmission autosomique récessive caractérisée par une cécité congénitale ou débutant tôt dans l'enfance, et par une ostéoporose juvénile sévère et des fractures spontanées."},"de":{"name":"Osteoporose-Pseudoglioma-Syndrom","synonyms":["OPPG"],"definition":"Eine seltene Knochenkrankheit, die durch eine angeborene oder im Säuglingsalter auftretende Blindheit und eine im Jugendalter auftretende Osteoporose mit spontanen und wenig traumatischen Frakturen gekennzeichnet ist."},"es":{"name":"Síndrome de osteoporosis-pseudoglioma","synonyms":["OPPG"],"definition":"Es una enfermedad ósea poco frecuente caracterizada por ceguera congénita, o de inicio en la lactancia, y osteoporosis de inicio juvenil con fracturas espontáneas o precedidas de un traumatismo mínimo."},"it":{"name":"Osteoporosi - pseudoglioma"},"nl":{"name":"Osteoporose - pseudoglioom-syndroom","synonyms":["OPPG"],"definition":"Een zeldzame aandoening van bot, gekenmerkt door congenitale of in de zuigelingentijd optredende blindheid en juveniel aanvangende osteoporose met spontane en door gering trauma veroorzaakte fracturen."},"pt":{"name":"Síndrome osteoporose-pseudoglioma","synonyms":["OPPG"],"definition":"Doença óssea rara caracterizada por cegueira congénita ou de início na infância e osteoporose de início juvenil com fraturas espontâneas e de baixo impacto."},"pl":{"name":"Osteoporoza - pseudoglioma","synonyms":["Oczna postać wrodzonej łamliwości kości","OPPG"]},"cs":{"name":"Syndrom zahrnující osteoporózu a pseudogliom","synonyms":["OPPG","Okulární forma osteogenesis imperfecta"]},"uk":{"name":"Синдром остеопорозу-псевдогліоми","synonyms":["Очна форма недосконалого остеогенезу","OPPG"],"definition":"A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures."},"zh":{"name":"骨质疏松症-假神经胶质瘤综合征","synonyms":["眼型成骨不全"]},"tr":{"name":"Osteoporoz-psödoglioma sendromu","synonyms":["OPPG","Osteogenezis imperfektanın oküler formu"]}},"xrefs":[{"source":"OMIM","code":"259770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1869284551"},{"source":"MONDO","code":"0009820","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536063","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432252","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4160","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21407258[PMID]_16679074[PMID]_16252235[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-11","source":"30499050[PMID]_28145787[PMID]_27245540[PMID]_3698335[PMID]_3955857[PMID]_4028503[PMID]_1025282[PMID]_1261071[PMID]","terms":[{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040069","label":"Abnormal lower limb bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012109","label":"Angle closure glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007875","label":"Congenital blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006367","label":"Crumpled long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007898","label":"Exudative retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030490","label":"Exudative vitreoretinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012052","label":"Low serum calcitriol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003366","label":"Abnormality of the femoral neck or head region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006934","label":"Congenital nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030551","label":"Visual acuity light perception with projection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008236","label":"Isosexual precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030515","label":"Moderately reduced visual acuity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very rare (<4-1%)","criteria":null}]}}