{"orpha":216796,"name":"Osteogenesis imperfecta type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Non-deforming osteogenesis imperfecta","OI type 1","Van der Hoeve syndrome","Adair-Dighton syndrome","Mild osteogenesis imperfecta"],"definition":"A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216796/","orphanet_url":"https://www.orpha.net/en/disease/detail/216796","names":{"fr":{"name":"Ostéogenèse imparfaite type 1","synonyms":["OI type 1","Ostéogenèse imparfaite légère","Ostéogenèse imparfaite sans déformation","Syndrome d'Adair-Dighton","Syndrome de Van der Hoeve"],"definition":"Forme légère d'ostéogenèse imparfaite, caractérisée par une fragilité osseuse et une faible masse osseuse, qui se manifestent sur le plan clinique par une tendance accrue aux fractures osseuses (dont fractures vertébrales par compression), une taille normale ou petite (généralement entre 0 et -2 DS), une légère scoliose (angle de Cobb < 30 degrés) ou l'absence de scoliose, des sclérotiques bleues et, en cas de dentinogénèse imparfaite et de légère incurvation des os longs, par des anomalies osseuses."},"de":{"name":"Osteogenesis imperfecta Typ 1","synonyms":["Adair-Dighton-Syndrom","Milde Osteogenesis imperfecta","Nicht-deformierende Osteogenesis imperfecta","OI Typ 1","Van der Hoeve-Syndrom"],"definition":"Eine milde Form der Osteogenesis imperfecta (OI), die durch eine erhöhte Knochenbrüchigkeit und eine verringerte Knochenmasse gekennzeichnet ist und sich klinisch durch eine erhöhte Anfälligkeit für Knochenbrüche (einschließlich Wirbelbrüche), eine normale Körpergröße oder einen Kleinwuchs (typischerweise zwischen 0 und -2,0 SD-Scores), eine milde (Cobb-Winkel <30 Grad) oder gar keine Skoliose, eine blaue Sklera und bei Dentinogenesis imperfecta und milden Langknochen bogenförmige Knochenfehlbildungen äußert."},"es":{"name":"Osteogénesis imperfecta tipo 1","synonyms":["OI tipo 1","Osteogénesis imperfecta leve","Osteogénesis imperfecta no deformante","Síndrome de Adair-Dighton","Síndrome de Van der Hoeve"],"definition":"Es una forma leve de osteogénesis imperfecta (OI) caracterizada por un aumento de la fragilidad ósea y baja masa ósea que se manifiesta clínicamente con una mayor susceptibilidad a las fracturas óseas (incluyendo las fracturas por aplastamiento vertebral), talla normal o baja (normalmente entre 0 y -2,0 DE), escoliosis leve (ángulo de Cobb <30 grados) o inexistente, esclerótica azul y dentinogénesis imperfecta, así como ligeras deformidades óseas por incurvación de los huesos largos."},"it":{"name":"Osteogenesi imperfetta, tipo 1","synonyms":["OI, tipo 1","Osteogenesi imperfetta lieve","Osteogenesi imperfetta non deformante","Sindrome di Adair-Dighton","Sindrome di Van der Hoeve"],"definition":"Si tratta di una forma lieve di osteogenesi imperfetta (OI), caratterizzata da fragilità ossea e da una riduzione della massa ossea che si manifesta, dal punto di vista clinico, con la predisposizione alle fratture ossee (comprese le fratture da schiacciamento vertebrale), statura normale o bassa statura (di solito compresa tra 0 e -2,0 DS), scoliosi lieve (angolo di Cobb <30 gradi) o assente, sclere blu e dentinogenesi imperfetta e lievi deformità da incurvamento delle ossa lunghe."},"nl":{"name":"Osteogenesis imperfecta type 1","synonyms":["Milde osteogenesis imperfecta","Niet-misvormende osteogenesis imperfecta","OI type 1","Syndroom van Adair-Dighton","Syndroom van Van der Hoeve"],"definition":"Een milde vorm van osteogenesis imperfecta (OI), gekenmerkt door verhoogde botfragiliteit en lage botmassa, die zich klinisch manifesteert met verhoogde susceptibiliteit voor botfracturen (waaronder fracturen van wervels door beknelling), normale lichaamslengte of kleine gestalte (doorgaans met scores tussen 0 en -2.0 SD), milde (Cobb-hoek kleiner dan 30 graden) of geen scoliose, blauwe sclera, en botmisvormingen als dentinogenesis imperfecta en milde kromstand van pijpbeenderen."},"pt":{"name":"Osteogenesis imperfecta tipo 1","synonyms":["OI tipo 1","Osteogenesis imperfecta não-deformante","Osteogénese imperfeita ligeira","Síndrome Adair-Dighton"]},"pl":{"name":"Wrodzona łamliwość kości typu 1","synonyms":["Łagodna postać wrodzonej łamliwości kości","Niedeformująca wrodzona łamliwość kości","OI typu 1","Zespół Adaira i Dightona","Zespół Van der Hoeve'a"]},"cs":{"name":"Osteogenesis imperfecta, typ 1","synonyms":["Mírná osteogenesis imperfecta","Nedeformující osteogenesis imperfecta","OI typ 1","Adairův-Dightonův syndrom","Van der Hoeveův syndrom","Adair-Dightonův syndrom"]},"uk":{"name":"Недосконалий остеогенез, тип 1","synonyms":["Синдром Адера-Дайтона","Помірний недосконалий остеогенез","Недосконалий недеформуючий остеогенез","OI тип 1","Синдром Ван дер Хува"],"definition":"A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities."},"zh":{"name":"成骨不全症1型","synonyms":["非变形性成骨不全"],"definition":"成骨不全Ⅰ型是一种轻度的成骨不全（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。"},"tr":{"name":"Osteogenezis imperfekta tip 1","synonyms":["OI tip 1","Adair-Dighton sendromu","Van der Hoeve sendromu","Hafif osteogenezis imperfekta","Deforme olmayan osteogenezis imperfekta"]}},"xrefs":[{"source":"OMIM","code":"166200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"166230","qualifier":"BTNT","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":"1897905410"},{"source":"MONDO","code":"0008146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023931","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8694","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]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]}],"children":[],"genes":[{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27380894[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"]},{"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":"21438135[PMID]_20301472[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":"21438135[PMID]_20301472[PMID]","hgnc":"2198","ensembl":"ENSG00000164692","omim":"120160","loci":["7q21.3"]},{"symbol":"P4HB","name":"prolyl 4-hydroxylase subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30913006[PMID]_30948499[PMID]","hgnc":"8548","ensembl":"ENSG00000185624","omim":"176790","loci":["17q25.3"]},{"symbol":"SEC24D","name":"SEC24 homolog D, COPII component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25683121[PMID]","hgnc":"10706","ensembl":"ENSG00000150961","omim":"607186","loci":["4q26"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.16,"area":"Sweden","status":"Validated","source":"25944380[PMID]"}],"phenotypes":null}