{"orpha":166265,"name":"Dentinogenesis imperfecta type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Dentinogenesis imperfecta, Shields type 3"],"definition":"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166265/","orphanet_url":"https://www.orpha.net/en/disease/detail/166265","names":{"fr":{"name":"Dentinogenèse imparfaite type 3","synonyms":["Dentinogenèse imparfaite type Shields 3"],"definition":"Forme rare et grave de dentinogenèse imparfaite (DGI) caractérisée par un aspect opalescent des dents de lait et des dents définitives, une usure dentaire importante, des chambres pulpaires élargies, de multiples expositions pulpaires et un aspect caractéristique de coquille à l'examen radiographique (c'est-à-dire des dents qui paraissent creuses en raison d'une hypotrophie de la dentine)."},"de":{"name":"Dentinogenesis imperfecta Typ 3","synonyms":["Dentinogenesis imperfecta Typ Shields III"],"definition":"Die Dentinogenesis imperfecta Typ 3 (DGI-3) ist eine seltene, schwere Form der Dentinogenesis imperfecta (DGI, siehe diesen Begriff), die gekennzeichnet ist durch opalisierende Zähne des Milch- und des bleibenden Gebisses, ausgeprägte Abnutzung, große Pulpahöhlen, vielfach freiliegende Pulpa und radiologisch Muschelzähne (d.h. Zähne, die aufgrund von Dentin-Hypotrophie hohl erscheinen)."},"es":{"name":"Dentinogénesis imperfecta tipo 3","synonyms":["Dentinogénesis imperfecta Shields tipo 3","Dentinogénesis imperfecta de Shields tipo 3"],"definition":"La dentinogénesis imperfecta tipo 3 (DGI-3) es una forma grave, poco frecuente, de dentinogénesis imperfecta (DGI; ver este término) que se caracteriza por dientes primarios y permanentes opalescentes, atrición marcada de la dentina, cámaras pulpares grandes, exposiciones pulpares múltiples y un aspecto radiográfico característico en cáscara de los dientes (es decir, dientes que aparecen huecos por hipotrofia de la dentina)."},"it":{"name":"Dentinogenesi imperfetta, tipo 3","synonyms":["Dentinogenesi imperfetta, tipo Shields 3"],"definition":"La dentinogenesi imperfetta tipo 3 (DGI-3) è una forma rara grave di dentinogenesi imperfetta (DGI; si veda questo termine), caratterizzata da denti primari e permanenti opalescenti, accentuato attrito, grandi camere pulpari, esposizione multipla della polpa e denti a conchiglia all'esame radiologico (denti che sembrano cavi a causa dell'ipotrofia della dentina)."},"nl":{"name":"Dentinogenesis imperfecta type 3","synonyms":["Dentinogenesis imperfecta, Shields-type 3"],"definition":"Dentinogenesis imperfecta type 3 (DGI-3) is een zeldzame, ernstige vorm van dentinogenesis imperfecta (DGI, zie deze term) en is gekenmerkt door opalescente melktanden en blijvende tanden, uitgesproken slijtage, wijde pulpakamers, meerdere blootliggende pulpa en tanden die er radiografisch schelpvormig uitzien (i.e. tanden die hol lijken door dentine hypotrofie)."},"pt":{"name":"Dentinogénese imperfeita, tipo 3"},"pl":{"name":"Dentinogenesis imperfecta typu 3","synonyms":["Dentinogenesis imperfecta, Shieldsa type 3"]},"cs":{"name":"Dentinogenesis imperfecta, typ 3","synonyms":["Dentinogenesis imperfecta, Shieldsův typ 3"]},"uk":{"name":"Недосконалий дентиногенез, тип 3","synonyms":["Недосконалий дентиногенез, Щитки типу 3"],"definition":"Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)."},"zh":{"name":"牙本质发育不全3型","synonyms":["牙本质发育不全Shields3型"],"definition":"牙本质发育不全3型(DGI-3)是一种罕见的严重型牙本质发育不全(DGI)，其特征是乳牙和恒牙呈乳白色、磨损明显、牙髓腔大、多个牙髓外露以及影像学可见壳状牙(即牙本质减少导致牙齿凹陷)。"},"tr":{"name":"Dentinogenesis imperfekta tip 3","synonyms":["Dantinojenez bozukluğu, Shields tipi 3"]}},"xrefs":[{"source":"OMIM","code":"125500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"518257495"},{"source":"MONDO","code":"0007442","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399378","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10144","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":49042,"name":"Dentinogenesis imperfecta","classifications":[156,197]}],"children":[],"genes":[{"symbol":"DSPP","name":"dentin sialophosphoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3054","ensembl":"ENSG00000152591","omim":"125485","loci":["4q22.1"]}],"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"}],"phenotypes":null}