{"orpha":216804,"name":"Osteogenesis imperfecta type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Lethal osteogenesis imperfecta","OI type 2"],"definition":"A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216804/","orphanet_url":"https://www.orpha.net/en/disease/detail/216804","names":{"fr":{"name":"Ostéogenèse imparfaite type 2","synonyms":["OI type 2","Ostéogenèse imparfaite létale"],"definition":"Type létal d'ostéogenèse imparfaite (OI) caractérisé par une fragilité osseuse, une faible masse osseuse et une susceptibilité aux fractures, se manifestant par de multiples fractures des côtes et des os longs à la naissance, des déformations marquées, des os longs larges, une faible densité radiographique du crâne et une sclérotique sombre."},"de":{"name":"Osteogenesis imperfecta Typ 2","synonyms":["Letale Osteogenesis imperfecta","OI Typ 2"],"definition":"Eine letale Form der Osteogenesis imperfecta (OI), die durch erhöhte Knochenbrüchigkeit, verminderte Knochenmasse und Frakturanfälligkeit gekennzeichnet ist. Betroffene Kinder weisen bei der Geburt multiple Rippen- und Röhrenknochenbrüche, ausgeprägte Fehlbildungen, breite Röhrenknochen, eine geringe Schädeldichte im Röntgenbild und eine dunkle Sklera auf."},"es":{"name":"Osteogénesis imperfecta tipo 2","synonyms":["Osteogénesis imperfecta letal","OI tipo 2"],"definition":"Es un tipo letal de osteogénesis imperfecta (OI) caracterizada por un incremento de la fragilidad ósea, baja masa ósea y susceptibilidad a las fracturas óseas y que se presenta con múltiples fracturas de costillas y huesos largos al nacer, deformidades notables, ensanchamiento de los huesos largos, cráneo de baja densidad en la radiografía, y esclerótica oscura."},"it":{"name":"Osteogenesi imperfetta tipo 2","synonyms":["OI tipo 2","Osteogenesi imperfetta letale","OI, tipo 2"],"definition":"Si tratta di una forma letale di osteogenesi imperfetta (OI), caratterizzata da un aumento della fragilità ossea, dalla riduzione della massa ossea e dalla predisposizione alle fratture. La malattia si manifesta con fratture multiple congenite delle costole e delle ossa lunghe, deformità significative, allargamento delle ossa lunghe, ridotta densità del cranio alle radiografie e sclere scure."},"nl":{"name":"Osteogenesis imperfecta type 2","synonyms":["Letale osteogenesis imperfecta","OI type 2"],"definition":"Een letaal type van osteogenesis imperfecta (OI), gekenmerkt door verhoogde botfragiliteit, lage botmassa, en susceptibiliteit voor botfracturen, en zich presenterend met multipele fracturen van ribben en pijpbeenderen bij de geboorte, opmerkelijke misvormingen, brede pijpbeenderen, lage densiteit van schedel op röntgenopnames, en donkere sclerae."},"pt":{"name":"Osteogénese imperfecta tipo 2","synonyms":["OI tipo 2","Osteogénese imperfeita letal","Osteogénese imperfeita tipo 2"],"definition":"Uma forma letal de osteogénese imperfeita (OI) caracterizada por maior fragilidade óssea, baixa massa óssea e suscetibilidade a fraturas ósseas, existindo múltiplas fraturas das costelas e dos ossos longos ao nascimento, deformidades marcadas, ossos longos largos, diminuição da densidade do crânio na radiografia, e esclera escurecida."},"pl":{"name":"Wrodzona łamliwość kości typu 2","synonyms":["OI typu 2","Śmiertelna postać wrodzonej łamliwości kości"]},"cs":{"name":"Osteogenesis imperfecta, typ 2","synonyms":["Letální osteogenesis imperfecta","OI typ 2"]},"uk":{"name":"Недосконалий остеогенез, тип 2","synonyms":["Летальний недосконалий остеогенез","Тип 2 ОІ"],"definition":"A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera."},"zh":{"name":"成骨不全症2型","synonyms":["致死性成骨不全"],"definition":"成骨不全Ⅱ型是一种致死型成骨不全（OI，见该词条），是一种以骨脆性增加，骨量低和易骨折为特征的遗传性疾病。II型患者出生时可见肋骨和长骨多发骨折、明显先天畸形、宽长骨、头骨X片低密度影和暗色巩膜。"},"tr":{"name":"Osteogenezis imperfekta tip 2","synonyms":["OI tip 2","Letal osteogenezis imperfekta"]}},"xrefs":[{"source":"OMIM","code":"166210","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":"618644","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":"2024049157"},{"source":"MONDO","code":"0008147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268358","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10142","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":"MESD","name":"mesoderm development LRP chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33596325[PMID]_31564437[PMID]","hgnc":"13520","ensembl":"ENSG00000117899","omim":"607783","loci":["15q25.1"]},{"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":"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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}