{"orpha":167759,"name":"Hereditary dentin defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare disorders comprises dentinogenesis imperfecta and dentin dysplasia characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. Clinically, the teeth are discolored and exhibit structural defects, such as bulbous crowns and small pulp chambers on radiographs. The underlying mineralization defect often results in shearing of the overlying enamel, leaving weakened dentin exposed and prone to wear.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-167759/","orphanet_url":"https://www.orpha.net/en/disease/detail/167759","names":{"fr":{"name":"Anomalie héréditaire de la dentine","definition":"Les anomalies héréditaires de la dentine, la dentinogénèse imparfaite (DGI) et la dysplasie de la dentine (DD), comprennent un groupe de maladies caractérisées par une structure anormale de la dentine ayant un effet, soit sur la dentition primaire, soit à la fois sur les dentitions primaire et secondaire."},"de":{"name":"Dentindefekt, hereditärer","definition":"Eine Gruppe seltener Störungen, darunter Dentinogenesis imperfecta und Dentin-Dysplasie, ist durch eine abnormale Dentinstruktur gekennzeichnet, die entweder das Milchgebiss oder sowohl das Milchgebiss als auch das bleibende Gebiss betrifft. Klinisch sind die Zähne verfärbt und weisen strukturelle Defekte auf, wie z. B. bauchige Kronen und kleine Pulpakammern auf Röntgenaufnahmen. Der zugrunde liegende Mineralisierungsdefekt führt häufig zu einer Abnutzung des darüber liegenden Zahnschmelzes, wodurch geschwächtes Dentin freigelegt wird und anfällig für Abnutzung ist."},"es":{"name":"Defecto hereditario de la dentina","definition":"Es un grupo de trastornos poco frecuentes, que comprende la dentinogénesis imperfecta y la displasia dentinaria, caracterizado por una estructura dentinaria anómala que afecta a la dentición primaria o a ambas. Clínicamente, los dientes presentan decoloración y defectos estructurales, como coronas bulbosas y cámaras pulpares pequeñas en las radiografías. El defecto de mineralización subyacente suele provocar el cizallamiento del esmalte suprayacente, dejando expuesta la dentina debilitada y propensa al desgaste."},"it":{"name":"Difetto ereditario della dentina","definition":"Le malattie ereditarie della dentina, la dentinogenesi imperfetta (DGI; si veda questo termine) e la displasia della dentina (DD; si veda questo termine) sono caratterizzate da una anomalia strutturale della dentina, che colpisce la dentizione primaria oppure sia quella primaria che quella permanente."},"nl":{"name":"Erfelijk dentinedefect","definition":"Een groep van zeldzame aandoeningen bestaande uit dentinogenesis imperfecta en dentinedysplasie, gekenmerkt door een abnormale structuur van dentine die ofwel het melkgebit, of zowel het melkgebit als het permanente gebit aantast. Klinisch vertonen de tanden verkleuring en structurele defecten zoals bolvormige kronen en kleine pulpakamers bij radiografie. Het onderliggende mineralisatiedefect resulteert vaak in afscheuren van bovenliggend tandglazuur, waardoor verzwakt dentine blootgesteld en vatbaar voor slijtage wordt."},"pt":{"name":"Deficiência hereditária da dentina"},"pl":{"name":"Wrodzony defekt zębiny"},"cs":{"name":"Vrozené vady dentinu"},"uk":{"name":"Спадковий дефект дентину","definition":"The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions."},"zh":{"name":"遗传性牙本质缺损","definition":"遗传性牙本质疾病，即牙本质发育不全（DGI）和牙本质发育异常（DD），是一组以牙本质结构异常为特征的疾病，且影响乳牙列或乳牙列和恒牙列。"},"tr":{"name":"Kalıtsal dentin defekti"}},"xrefs":[{"source":"MONDO","code":"15668","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680465","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":420755,"name":"Rare genetic odontal or periodontal disorder","classifications":[156]},{"orpha":164001,"name":"Rare odontal or periodontal disorder","classifications":[197]}],"children":[{"orpha":1653,"name":"Dentin dysplasia","type":"Disease"},{"orpha":49042,"name":"Dentinogenesis imperfecta","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}