{"orpha":314029,"name":"High bone mass osteogenesis imperfecta","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["High bone mass OI"],"definition":"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314029/","orphanet_url":"https://www.orpha.net/en/disease/detail/314029","names":{"fr":{"name":"Ostéogenèse imparfaite avec augmentation de la masse osseuse","synonyms":["OI avec augmentation de la masse osseuse"],"definition":"Dysplasie osseuse primaire rare, d'origine génétique, caractérisée par une fragilité osseuse accrue et se manifestant par de multiples fractures vertébrales et périphériques pendant l'enfance, associées à une augmentation de la masse osseuse détectée par examen radiométrique. Les patients sont généralement de taille normale ou de petite taille (forme légère) et présentent une dentinogenèse, une audition et des sclérotiques normales."},"de":{"name":"Osteogenesis imperfecta Hohe Knochenmasse","synonyms":["OI mit hoher Knochendichte"]},"es":{"name":"Osteogénesis imperfecta con aumento de la masa ósea","synonyms":["OI con aumento de la masa ósea"],"definition":"La osteogénesis imperfecta con aumento de la masa ósea es un trastorno de displasia ósea primaria, genético y poco frecuente, caracterizado por aumento de la fragilidad ósea, que se manifiesta con múltiples fracturas vertebrales y periféricas, de inicio en la infancia, asociada a un aumento de la densidad ósea en el examen radiométrico. Típicamente, los afectados presentan talla normal o baja leve y, por lo general, la dentinogénesis, la audición y las escleróticas son normales."},"it":{"name":"Osteogenesi imperfetta con aumento della massa ossea","synonyms":["OI con aumento della massa ossea"],"definition":"L'osteogenesi imperfetta con aumento della massa ossea è una displasia scheletrica primitiva genetica rara, caratterizzata da un aumento della fragilità ossea, che si manifesta con fratture vertebrali e periferiche multiple ad esordio infantile, associate ad un aumento della densità della massa ossea all'esame radiometrico. Di solito i pazienti presentano statura normale o leggermente ridotta, con dentinogenesi, udito e sclere di solito normali."},"nl":{"name":"Osteogenesis imperfecta met hoge botmassa","synonyms":["OI met hoge botmassa"],"definition":"Osteogenesis imperfecta met hoge botmassa is een zeldzame, genetische, primaire botdysplasie die gekarakteriseerd wordt door beenderen met verhoogde broosheid, en die zich manifesteert met meervoudige, in de kindertijd aanvangende, vertebrale en perifere fracturen, geassocieerd met verhoogde botdichtheid bij radiometrisch onderzoek. Doorgaans presenteren patiënten zich met normale of mild kleine gestalte, terwijl dentinogenese, gehoor en oogwit gewoonlijk normaal zijn."},"pt":{"name":"Osteogenesis imperfecta com massa óssea elevada","synonyms":["OI com massa óssea elevada"]},"pl":{"name":"Wrodzona łamliwość kości z wysoką gęstością kości","synonyms":["OI z wysoką masą kostną"],"definition":"*Wrodzona łamliwość kości z wysoką gęstością kości jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazją kostną. Charakteryzuje się zwiększoną łamliwością kości, objawiającą się licznymi złamaniami kręgów i kości kończyn we wczesnym dzieciństwie oraz zwiększoną gęstością kości w badaniu radiometrycznym. Wzrost pacjentów jest zazwyczaj prawidłowy lub nieco zmniejszony, natomiast uzębienie, słuch i twardówki są zwykle prawidłowe."},"cs":{"name":"Osteogenesis imperfecta s vysokou kostní denzitou","synonyms":["OI s vysokou kostní denzitou"]},"uk":{"name":"Недосконалий остеогенез з високою кістковою масою","synonyms":["Висока кісткова маса OI"],"definition":"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal."},"zh":{"name":"高骨密度成骨不全","synonyms":["高骨密度OI病"],"definition":"高骨量成骨不全症是一种罕见的遗传性原发性骨发育不全症，其特征是骨脆弱性增加，表现为多发性、儿童期发病、椎体及周围骨折，放射检查显示骨量密度增加。患者通常表现为正常或轻度身材矮小，牙本质形成、听力和巩膜通常正常。"},"tr":{"name":"Yüksek kemik yoğunluklu osteogenezis imperfekta","synonyms":["Yüksek kemik kütlesi OI"]}},"xrefs":[{"source":"ICD-10","code":"Q78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190607","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"BMP1","name":"bone morphogenetic protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27264419[PMID]_22482805[PMID","hgnc":"1067","ensembl":"ENSG00000168487","omim":"112264","loci":["8p21.3"]},{"symbol":"COL1A1","name":"collagen type I alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21344539[PMID]","hgnc":"2197","ensembl":"ENSG00000108821","omim":"120150","loci":["17q21.33"]},{"symbol":"COL1A2","name":"collagen type I alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21344539[PMID]","hgnc":"2198","ensembl":"ENSG00000164692","omim":"120160","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21344539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}