{"orpha":498481,"name":"LRP5-related primary osteoporosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498481/","orphanet_url":"https://www.orpha.net/en/disease/detail/498481","names":{"fr":{"name":"Ostéoporose primaire associée à LRP5","definition":"Dysplasie osseuse primaire caractérisée par une diminution de la densité minérale osseuse réduite (définie par le score Z inférieur à -2,0), des fractures vertébrales par compression et des fractures périphériques récurrentes causées par des traumatismes à faible énergie, ayant pour conséquence des douleurs osseuses et un déficit moteur. Les patients deviennent généralement symptomatiques dans l'enfance ou l'adolescence."},"de":{"name":"Osteoporose, primäre, LRP5-assoziierte","definition":"Eine seltene primäre Knochendysplasie, die durch eine verminderte Knochenmineraldichte (definiert als Z-Score unter -2,0), vertebrale Kompressionsfrakturen und rezidivierende periphere Frakturen nach leichten Traumata gekennzeichnet ist, die zu Knochenschmerzen und eingeschränkter Mobilität führen. Die Symptome treten in der Regel im Kindes- oder Jugendalter auf."},"es":{"name":"Osteoporosis primaria asociada al gen LRP5","definition":"Es una displasia ósea primaria poco frecuente caracterizada por una reducción de la densidad mineral ósea (definida como una puntuación Z por debajo de -2,0), fracturas vertebrales por compresión y fracturas periféricas recurrentes causadas por traumatismos de bajo impacto que provocan dolor óseo y limitación de la movilidad. Los pacientes suelen manifestar los primeros síntomas en la infancia o en la adolescencia."},"it":{"name":"Osteoporosi primitiva correlata a LRP5","definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da ridotta densità minerale delle ossa (punteggio Z < -2,0) fratture da compressione delle vertebre e fratture periferiche ricorrenti causate da traumi lievi, che causano dolore osseo e compromettono la mobilità. Di solito i pazienti sviluppano i primi sintomi nell'infanzia o nell'adolescenza."},"nl":{"name":"LRP5-gerelateerde primaire osteoporose","definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door verminderde botmineraaldichtheid (gedefinieerd als een Z-score onder -2,0), vertebrale compressiefracturen, en recidiverende perifere fracturen veroorzaakt door trauma met lage impact, met botpijn en verstoorde mobiliteit tot gevolg. Patiënten worden doorgaans symptomatisch in de kindertijd of adolescentie."},"pt":{"name":"Osteoporose primária LRP5-relacionada"},"pl":{"name":"Pierwotna osteoporoza związana z LRP5"},"cs":{"name":"LRP5-vázaná primární osteoporóza"},"uk":{"name":"Первинний остеопороз, повязаний з LRP5","definition":"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence."},"zh":{"name":"LRP5相关原发性骨质疏松症"},"tr":{"name":"LRP5-ilişkili primer osteoporoz"}},"xrefs":[{"source":"ICD-10","code":"M85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044675","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567241","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15824851[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]},{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15824851[PMID]_22487062[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15824851[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}