{"orpha":216812,"name":"Osteogenesis imperfecta type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OI type 3","Progressive deforming osteogenesis imperfecta","Severe osteogenesis imperfecta"],"definition":"A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216812/","orphanet_url":"https://www.orpha.net/en/disease/detail/216812","names":{"fr":{"name":"Ostéogenèse imparfaite type 3","synonyms":["OI type 3","Ostéogenèse imparfaite progressive déformante","Ostéogenèse imparfaite sévère"],"definition":"Forme sévère d'ostéogenèse imparfaite caractérisée par une fragilité osseuse excessive et une faible masse osseuse se manifestant sur le plan clinique par une prédisposition aux fractures osseuses, une petite taille de forme sévère, un visage triangulaire, une scoliose modérée à sévère, une sclérotique de coloration bleutée ou bleu-gris et une dentinogenèse imparfaite."},"de":{"name":"Osteogenesis imperfecta Typ 3","synonyms":["OI Typ 3","Progressive deformierende Osteogenesis imperfecta","Schwere Osteogenesis imperfecta"],"definition":"Eine schwere Form der Osteogenesis imperfecta, die durch erhöhte Knochenbrüchigkeit und verringerte Gewebeverdichtung gekennzeichnet ist und sich klinisch durch Anfälligkeit für Knochenbrüche, starken Kleinwuchs, ein dreieckiges Gesicht, mäßige bis schwere Skoliose, blaue oder blaugraue Sklera und Dentinogenesis imperfecta äußert."},"es":{"name":"Osteogénesis imperfecta tipo 3","synonyms":["OI tipo 3","Osteogénesis imperfecta deformante progresiva","Osteogénesis imperfecta grave"],"definition":"Es un tipo grave de osteogénesis imperfecta caracterizada por un aumento de la fragilidad ósea y baja masa ósea que se manifiesta clínicamente como susceptibilidad a las fracturas óseas, talla baja extrema, cara triangular, escoliosis de moderada a grave, esclerótica azul o azul-grisácea y dentinogénesis imperfecta."},"it":{"name":"Osteogenesi imperfetta tipo 3","synonyms":["OI tipo 3","Osteogenesi imperfetta deformante progressiva","Osteogenesi imperfetta grave"],"definition":"Si tratta di una forma grave 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, statura notevolmente bassa, viso triangolare, scoliosi moderata-grave, sclere blu o grigio-blu e dentinogenesi imperfetta."},"nl":{"name":"Osteogenesis imperfecta type 3","synonyms":["Ernstige osteogenesis imperfecta","OI type 3","Progressief deformerende osteogenesis imperfecta"],"definition":"Een ernstige vorm van osteogenesis imperfecta, gekenmerkt door verhoogde botfragiliteit en lage botmassa, die zich klinisch manifesteert met susceptibiliteit voor botfracturen, ernstige kleine gestalte, een driehoekig aangezicht, matige tot ernstige scoliose, blauwe of grijs-blauwe sclera, en dentinogenesis imperfecta."},"pt":{"name":"Osteogenesis imperfecta tipo 3","synonyms":["OI tipo 3","Osteogenesis imperfeita tipo 3","Osteogénese imperfeita deformante progressiva","Osteogénese imperfeita grave"]},"pl":{"name":"Wrodzona łamliwość kości typu 3","synonyms":["Ciężka postać wrodzonej łamliwości kości","OI typu 3","Postępująca deformująca wrodzona łamliwość kości"]},"cs":{"name":"Osteogenesis imperfecta, typ 3","synonyms":["OI typ 3","Progresivní deformující osteogenesis imperfecta","Težká osteogenesis imperfecta","Těžká osteogenesis imperfecta"]},"uk":{"name":"Недосконалий остеогенез, тип 3","synonyms":["Тип ОІ 3","Прогресуючий деформуючий недосконалий остеогенез","Важка форма недосконалого остеогенезу"],"definition":"A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta."},"zh":{"name":"成骨不全症3型","synonyms":["进行性变形性成骨不全"],"definition":"成骨不全Ⅲ型是一种严重的成骨不全（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。III型患者的主要症状包括身材矮小、三角形脸、严重的脊柱侧凸、浅灰色巩膜和牙本质发育不全（DI；见该词条）。"},"tr":{"name":"Osteogenezis imperfekta tip 3","synonyms":["OI tip 3","Ağır osteogenezis imperfekta","İlerleyici deforme edici osteogenezis imperfekta"]}},"xrefs":[{"source":"OMIM","code":"259420","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"259440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610682","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610915","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610968","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613848","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613982","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614856","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616229","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617952","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":"629873920"},{"source":"MONDO","code":"0009804","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268362","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8695","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":167762,"name":"Rare disease with dentinogenesis imperfecta","classifications":[156,197]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]}],"children":[],"genes":[{"symbol":"TENT5A","name":"terminal nucleotidyltransferase 5A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29358272[PMID]","hgnc":"18345","ensembl":"ENSG00000112773","omim":"611357","loci":["6q14.1"]},{"symbol":"WNT1","name":"Wnt family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23499310[PMID]_25046257[PMID]","hgnc":"12774","ensembl":"ENSG00000125084","omim":"164820","loci":["12q13.12"]},{"symbol":"BMP1","name":"bone morphogenetic protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22052668[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":"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":"CREB3L1","name":"cAMP responsive element binding protein 3 like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24079343[PMID]","hgnc":"18856","ensembl":"ENSG00000157613","omim":"616215","loci":["11p11.2"]},{"symbol":"CRTAP","name":"cartilage associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]","hgnc":"2379","ensembl":"ENSG00000170275","omim":"605497","loci":["3p22.3"]},{"symbol":"FKBP10","name":"FKBP prolyl isomerase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]_25046257[PMID]","hgnc":"18169","ensembl":"ENSG00000141756","omim":"607063","loci":["17q21.2"]},{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27380894[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"]},{"symbol":"P3H1","name":"prolyl 3-hydroxylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]","hgnc":"19316","ensembl":"ENSG00000117385","omim":"610339","loci":["1p34.2"]},{"symbol":"PPIB","name":"peptidylprolyl isomerase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]","hgnc":"9255","ensembl":"ENSG00000166794","omim":"123841","loci":["15q22.31"]},{"symbol":"SERPINF1","name":"serpin family F member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21353196[PMID]_25046257[PMID]","hgnc":"8824","ensembl":"ENSG00000132386","omim":"172860","loci":["17p13.3"]},{"symbol":"SERPINH1","name":"serpin family H member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]","hgnc":"1546","ensembl":"ENSG00000149257","omim":"600943","loci":["11q13.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"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 / 1 000 000","value":0.89,"area":"Sweden","status":"Validated","source":"25944380[PMID]"}],"phenotypes":null}