{"orpha":216828,"name":"Osteogenesis imperfecta type 5","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OI type 5"],"definition":"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216828/","orphanet_url":"https://www.orpha.net/en/disease/detail/216828","names":{"fr":{"name":"Ostéogenèse imparfaite type 5","synonyms":["OI type 5"],"definition":"Forme modérée d'ostéogenèse imparfaite caractérisée par une fragilité osseuse excessive et une faible masse osseuse qui se manifeste sur le plan clinique par une prédisposition aux fractures osseuses de sévérité variable, des modifications métaphysaires à la naissance, une petite taille, une luxation de la tête radiale, une calcification des membranes interosseuses, des cals hyperplasiques, (survenant plus souvent pendant les périodes d'accélération de croissance), une sclérotique blanche et l'absence de dentinogenèse imparfaite."},"de":{"name":"Osteogenesis imperfecta Typ 5","synonyms":["OI Typ 5"],"definition":"Eine mittelschwere Form der Osteogenesis imperfecta, die durch eine erhöhte Knochenbrüchigkeit und verringerte Gewebeverdichtung gekennzeichnet ist und sich klinisch durch eine Anfälligkeit für Knochenbrüche unterschiedlichen Schweregrades, metaphysäre Veränderungen bei der Geburt, Kleinwuchs, Dislokation des Radiusköpfchens, mineralisierte interossäre Membranen, hyperplasische Kallusbildung (die häufiger in Phasen schnelleren Wachstums auftritt), weiße Sklera und das Fehlen der Dentinogenesis imperfecta äußert."},"es":{"name":"Osteogénesis imperfecta tipo 5","synonyms":["OI tipo 5"],"definition":"Es una forma moderada de osteogénesis imperfecta caracterizada por una mayor fragilidad ósea y baja masa ósea que se manifiesta clínicamente con susceptibilidad a las fracturas óseas de gravedad variable, cambios metafisarios al nacimiento, talla baja, luxación de la cabeza radial, mineralización de las membranas interóseas, formación de callo hiperplásico (que se produce con mayor frecuencia durante los períodos de más rápido crecimiento), esclerótica blanquecina y ausencia de dentinogénesis imperfecta."},"it":{"name":"Osteogenesi imperfetta, tipo 5","synonyms":["OI, tipo 5"],"definition":"Si tratta di una forma moderata di osteogenesi imperfetta, caratterizzata da fragilità ossea e dalla riduzione della massa ossea, che si manifesta, dal punto di vista clinico, con predisposizione alle fratture ossee di gravità variabile, alterazioni congenite delle metafisi, bassa statura, dislocazione della testa del radio, membrane interossee mineralizzate, iperplasia dei calli ossei (che si manifesta prevalentemente nei periodi in cui la crescita è più rapida) e sclere bianche, in assenza di dentinogenesi imperfetta."},"nl":{"name":"Osteogenesis imperfecta type 5","synonyms":["OI type 5"],"definition":"Een matige vorm van osteogenesis imperfecta, gekenmerkt door verhoogde botfragiliteit en lage botmassa, die zich klinisch manifesteert met susceptibiliteit voor botfracturen met variabele ernst, metafysaire veranderingen bij de geboorte, kleine gestalte, luxatie van radiuskop, gemineraliseerde interossale membranen, hyperplastische callus (die vaker voorkomt tijdens periodes van snellere groei), witte sclera en afwezigheid van dentinogenesis imperfecta."},"pt":{"name":"Osteogenesis imperfecta tipo 5","synonyms":["OI tipo 5","Osteogenesis imperfeita tipo 5"]},"pl":{"name":"Wrodzona łamliwość kości typu 5","synonyms":["OI typu 5"]},"cs":{"name":"Osteogenesis imperfecta, typ 5","synonyms":["OI typ 5"]},"uk":{"name":"Недосконалий остеогенез, тип 5","synonyms":["Тип ОІ 5"],"definition":"A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta."},"zh":{"name":"成骨不全症5型","synonyms":["5型OI"],"definition":"成骨不全V型是一种中度成骨不全（OI；见该词条），一种以骨脆性增加、骨量低和易骨折为特征的遗传性疾病。V型患者的特点是轻度到中度身材矮小，桡骨头脱位，骨间膜矿化，增生性骨痂，白色巩膜，无牙本质发育不全（DI；见该词条）。"},"tr":{"name":"Osteogenezis imperfekta tip 5","synonyms":["OI tip 5"]}},"xrefs":[{"source":"OMIM","code":"610967","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.K0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1718903422"},{"source":"MONDO","code":"0012591","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567042","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931093","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8699","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":666,"name":"Osteogenesis imperfecta","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"IFITM5","name":"interferon induced transmembrane protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22863190[PMID]_22863195[PMID]_25046257[PMID]","hgnc":"16644","ensembl":"ENSG00000206013","omim":"614757","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}