{"orpha":216820,"name":"Osteogenesis imperfecta type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OI type 4"],"definition":"A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216820/","orphanet_url":"https://www.orpha.net/en/disease/detail/216820","names":{"fr":{"name":"Ostéogenèse imparfaite type 4","synonyms":["OI type 4"],"definition":"Forme modérément sévère d'ostéogenèse imparfaite caractérisée par une fragilité osseuse accrue et une faible masse osseuse, dont les signes cliniques apparaissent pendant la petite enfance (à savoir, prédisposition aux fractures osseuses, petite taille, scoliose légère à modérée chez la plupart des patients, sclérotiques gris-bleu ou blanches et dentinogenèse imparfaite)."},"de":{"name":"Osteogenesis imperfecta Typ 4","synonyms":["OI Typ 4"],"definition":"Die Osteogenesis imperfecta Typ IV ist ein mittelschwerer Typ der Osteogenesis imperfecta, die durch eine erhöhte Knochenbrüchigkeit und eine geringe Knochenmasse gekennzeichnet ist und sich klinisch bereits im Säuglingsalter als Anfälligkeit für Knochenbrüche, Kleinwuchs, leichte bis mittelschwere Skoliose, graublaue oder weiße Sklera und Dentinogenesis imperfecta manifestiert."},"es":{"name":"Osteogénesis imperfecta tipo 4","synonyms":["OI tipo 4"],"definition":"Es una forma moderadamente grave de osteogénesis imperfecta caracterizada por un aumento de la fragilidad ósea y baja masa ósea que se manifiesta clínicamente desde la lactancia con susceptibilidad a las fracturas óseas, talla baja, escoliosis de leve a moderada en la mayoría de los pacientes, esclerótica gris-azulada o blanquecina, y dentinogénesis imperfecta."},"it":{"name":"Osteogenesi imperfetta tipo 4","synonyms":["OI tipo 4"],"definition":"Si tratta di una forma moderatamente grave di osteogenesi imperfetta, caratterizzata da fragilità ossea e dalla riduzione della massa ossea, che si manifesta dalla prima infanzia con tendenza alle fratture ossee, bassa statura, scoliosi lieve-moderata nella maggior parte dei pazienti, sclere grigio-blu o bianche, e dentinogenesi imperfetta."},"nl":{"name":"Osteogenesis imperfecta type 4","synonyms":["OI type 4"],"definition":"Een matig ernstige vorm van osteogenesis imperfecta, gekenmerkt door verhoogde botfragiliteit en lage botmassa, die zich klinisch manifesteert vanaf de zuigelingentijd met susceptibiliteit voor botfracturen, kleine gestalte, milde tot matige scoliose bij de meesten, grijs-blauwe of witte sclera, en dentinogenesis imperfecta."},"pt":{"name":"Osteogenesis imperfecta tipo 4","synonyms":["OI tipo 4","Osteogenesis imperfeita tipo 4"]},"pl":{"name":"Wrodzona łamliwość kości typu 4","synonyms":["OI typu 4"]},"cs":{"name":"Osteogenesis imperfecta, typ 4","synonyms":["OI typ 4"]},"uk":{"name":"Недосконалий остеогенез, тип 4","synonyms":["Тип ОІ 4"],"definition":"A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta."},"zh":{"name":"成骨不全症4型","synonyms":["4型OI"],"definition":"成骨不全IV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。IV型患者表现为中度身材矮小，轻度至中度脊柱侧凸，浅灰色或白色巩膜和牙本质发育不全（DI；见该词条）。"},"tr":{"name":"Osteogenezis imperfekta tip 4","synonyms":["OI tip 4"]}},"xrefs":[{"source":"OMIM","code":"166220","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":"610968","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613849","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613982","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615066","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616507","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":"829297901"},{"source":"MONDO","code":"0008148","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000631847","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268363","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8696","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":"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":"23434763[PMID]_25046257[PMID]","hgnc":"12774","ensembl":"ENSG00000125084","omim":"164820","loci":["12q13.12"]},{"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":"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":"PPIB","name":"peptidylprolyl isomerase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21282188[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":"25046257[PMID]","hgnc":"8824","ensembl":"ENSG00000132386","omim":"172860","loci":["17p13.3"]},{"symbol":"SP7","name":"Sp7 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]","hgnc":"17321","ensembl":"ENSG00000170374","omim":"606633","loci":["12q13.13"]},{"symbol":"SPARC","name":"secreted protein acidic and cysteine rich","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26027498[PMID]","hgnc":"11219","ensembl":"ENSG00000113140","omim":"182120","loci":["5q33.1"]},{"symbol":"TMEM38B","name":"transmembrane protein 38B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23313006[PMID]_25046257[PMID]","hgnc":"25535","ensembl":"ENSG00000095209","omim":"611236","loci":["9q31.2"]}],"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 / 100 000","value":1.35,"area":"Sweden","status":"Validated","source":"25944380[PMID]"}],"phenotypes":null}