{"orpha":49042,"name":"Dentinogenesis imperfecta","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DGI","DGI without OI","DI","Dentinogenesis imperfecta without osteogenesis imperfecta","Non-syndromic DGI","Non-syndromic dentinogenesis imperfecta","Opalescent teeth without OI","Opalescent teeth without osteogenesis imperfecta"],"definition":"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-49042/","orphanet_url":"https://www.orpha.net/en/disease/detail/49042","names":{"fr":{"name":"Dentinogenèse imparfaite","synonyms":["DGI","DGI non syndromique","DGI sans OI","DI","Dentinogenèse imparfaite non syndromique","Dentinogenèse imparfaite sans ostéogenèse imparfaite","Dents opalescentes sans OI"],"definition":"Anomalie héréditaire de la dentine, caractérisée par une structure anormale de la dentine entraînant un développement anormal de la dent."},"de":{"name":"Dentinogenesis imperfecta","synonyms":["DGI","DGI ohne OI","DI","Dentinogenesis imperfecta, nicht-syndromale","Opaleszierende Zähne ohne Osteogenesis imperfecta"],"definition":"Die Dentinogenesis imperfecta (DGI) ist ein erblicher Dentindefekt (siehe dort), der durch eine abnorme Dentinstruktur gekennzeichnet ist, die zu einer abnormen Zahnentwicklung führt."},"es":{"name":"Dentinogénesis imperfecta","synonyms":["DGI","DGI no sindrómica","DGI sin OI","DI","Dentinogénesis imperfecta no sindrómica","Dentinogénesis imperfecta sin osteogénesis imperfecta","Dientes opalescentes sin OI","Dientes opalescentes sin osteogénesis imperfecta"],"definition":"La dentinogénesis imperfecta (DGI) es un defecto hereditario de la dentina (consulte este término) caracterizado por una estructura anómala de la dentina que da lugar a un desarrollo anómalo de los dientes."},"it":{"name":"Dentinogenesi imperfetta","synonyms":["DGI","DGI non sindromica","DGI senza OI","DI","Denti opalescenti senza OI","Denti opalescenti senza osteogenesi imperfetta","Dentinogenesi imperfetta non sindromica","Dentinogenesi imperfetta senza osteogenesi imperfetta"],"definition":"La dentinogenesi imperfetta (DGI) è un difetto ereditario della dentina (si veda questo termine) caratterizzato da anomalie strutturali della dentina responsabili di uno sviluppo anomalo dei denti."},"nl":{"name":"Dentinogenesis imperfecta","synonyms":["Opalescerende tanden zonder osteogenesis imperfecta","DGI","DGI zonder OI","DI","Dentinogenesis imperfecta zonder osteogenesis imperfecta","Niet-syndromale DGI","Niet-syndromale dentinogenesis imperfecta","Opalescerende tanden zonder OI"],"definition":"Dentinogenesis imperfecta (DGI) is een erfelijke dentinestoornis (zie deze term) gekenmerkt door een abnormale dentinestructuur met een abnormale tandontwikkeling als gevolg."},"pt":{"name":"Dentinogenesis imperfecta","synonyms":["DGI","DGI não sindrómica","DGI sem OI","DI","Dentinogenesis imperfecta sem osteogenesis imperfecta","Dentinogénese imperfeita"]},"pl":{"name":"Wrodzony niedorozwój zębiny","synonyms":["Dentinogenesis imperfecta bez wrodzonej łamliwości kości","DGI","DGI bez OI","DI","Niesyndromiczna","Niesyndromiczny wrodzony niedorozwój zębiny","Opalizujące zęby bez OI","Opalizujące zęby bez osteogenesis imperfecta"]},"cs":{"name":"Dentinogenesis imperfecta","synonyms":["DGI","DGI bez OI","DI","Dentinogenesis imperfecta bez osteogenesis imperfecta","Nesyndromická DGI","Nesyndromická dentinogenesis imperfecta","Opaleskující zuby bez OI","Opaleskující zuby bez osteogenesis imperfecta","Opaleskující dentin","Dentinogenesis imperfecta, typ II"]},"uk":{"name":"Недосконалий дентиногенез","synonyms":["Недосконалий дентиногенез без недосконалого остеогенезу","DGI","DGI без ОІ","DI","Несиндромний недосконалий дентиногенез","Несиндромна DGI","Опалесцентні зуби без ОІ","Опалесцентні зуби без недосконалого остеогенезу"],"definition":"Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development."},"zh":{"name":"牙本质发育不全","synonyms":["无成骨不全性牙本质发育不全"]},"tr":{"name":"Dentinogenezis imperfekta","synonyms":["DI","DGI","OI oile seyretmeyen DGI","Sendromik olmayan DGI","OI ile seyretmeyen opelesan dişler","Sendromik olmayan dentinogenezis imperfekta","Osteogenezis imperfekta olmayan opelesan dişler","Osteogenezis imperfekta ile seyretmeyen dentinogenezis imperfekta"]}},"xrefs":[{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA30.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2090257992"},{"source":"MONDO","code":"0018849","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011436","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6258","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10054013","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":167759,"name":"Hereditary dentin defect","classifications":[156,197]}],"children":[{"orpha":166260,"name":"Dentinogenesis imperfecta type 2","type":"Clinical subtype"},{"orpha":166265,"name":"Dentinogenesis imperfecta type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":166260,"name":"Dentinogenesis imperfecta type 2"}},{"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"],"via":{"orpha":166265,"name":"Dentinogenesis imperfecta type 3"}}],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-11","source":"30964718[PMID]_30134932[PMID]_31284784[PMID]","terms":[{"hpo":"HP:0006486","label":"Abnormality of the dental root","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006350","label":"Obliteration of the pulp chamber","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010299","label":"Abnormality of dentin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006479","label":"Abnormality of the dental pulp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025124","label":"Fragile teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006282","label":"Generalized hypoplasia of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000683","label":"Grayish enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011084","label":"Hypocalcification of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000694","label":"Odontodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006286","label":"Yellow-brown discoloration of the teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006094","label":"Finger joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010485","label":"Hyperextensibility at elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001592","label":"Selective tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006336","label":"Short dental roots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very rare (<4-1%)","criteria":null}]}}