{"orpha":314721,"name":"Atypical dentin dysplasia due to SMOC2 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Dentin dysplasia type 1 with microdontia and shape anomalies"],"definition":"A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314721/","orphanet_url":"https://www.orpha.net/en/disease/detail/314721","names":{"fr":{"name":"Dysplasie de la dentine atypique par déficit en SMOC2","synonyms":["Dysplasie de la dentine type 1 avec microdontie et anomalies de forme"],"definition":"Dysplasie rare de la dentine d'origine génétique caractérisée par une microdontie extrême, une oligodontie et une forme anormale des dents (y compris la formation de dents globulaires, d'encoches sur le bord incisif et de dents doubles). Des racines courtes avec un phénotype de pulpe variable (y compris le taurodontisme et une pulpe en forme de flamme), une hypoplasie de l'émail et une occlusion ouverte antérieure peuvent également être associées."},"de":{"name":"Dentindysplasie, atypische, durch SMOC2-Mangel","synonyms":["Dentindysplasie Typ 1 mit Mikrodontie und Formanomalien"]},"es":{"name":"Displasia de dentina atípica por deficiencia de SMOC2","synonyms":["Displasia de dentina tipo 1 con microdontia y anomalías en la forma"],"definition":"Es una displasia de la dentina genética y poco frecuente caracterizada por microdoncia extrema, oligodoncia y anomalías de la forma de los dientes (incluyendo dientes globulares, muescas incisales y formación de dientes dobles). También puede asociar raíces cortas con un fenotipo de pulpa variable (que incluye taurodoncia y pulpa en forma de llama), hipoplasia del esmalte y mordida abierta anterior."},"it":{"name":"Displasia atipica della dentina da deficit di SMOC2","synonyms":["Displasia della dentina tipo 1 con microdontia e anomalie nella forma"],"definition":"È una displasia rara della dentina, di origine genetica, caratterizzata da microdontia molto marcata, oligodontia e anomalie della forma dei denti (denti globulari, presenza di fenditure sugli incisivi e formazione di denti doppi). Altri segni clinici sono le radici corte con caratteristiche variabili della polpa (taurodontismo e polpa a forma di fiamma), l'ipoplasia dello smalto e il morso aperto anteriore."},"nl":{"name":"Atypische dentinedysplasie door SMOC2-deficiëntie","synonyms":["Dentinedysplasie type 1 met microdontie en vormanomalieën"],"definition":"Een zeldzame, genetische, dentinedysplasie die gekarakteriseerd wordt door extreme microdontie, oligodontie, en tanden met abnormale vorm (waaronder bolvormige tanden, inkepingen in snijtanden en vorming van dubbele tanden). Korte wortels met tandmerg met een variabel fenotype (waaronder taurodontie en vlamvormig merg), hypoplasie van het tandglazuur, en anterieur open beet kunnen ook geassocieerd zijn."},"pt":{"name":"Displasia da dentina, atipica, devido à deficiência de SMOC2","synonyms":["Displasia da dentina, tipo 1, com microdontia e anomalias da forma"]},"pl":{"name":"Atypowa dysplazja zębiny z powodu niedoboru SMOC2","synonyms":["Dysplazja zębiny typu 1 z mikrodoncją i nieprawidłowym kształtem zębów"]},"cs":{"name":"Atypická dysplázie dentinu způsobená deficitem SMOC2","synonyms":["Dysplázie dentinu typ 1 s mikrodoncií a tvarovými odchylkami"]},"uk":{"name":"Атипова дисплазія дентину, зумовлена дефіцитом SMOC2","synonyms":["Дисплазія дентину 1 типу з мікродонтією та аномаліями форми"],"definition":"A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated."},"zh":{"name":"SMOC2基因缺陷所致非典型牙本质发育不良","synonyms":["牙本质发育不良1型伴牙过小和畸形"],"definition":"一种罕见的遗传性牙本质发育不良疾病，其特征是极度的小牙、少牙和牙齿畸形（包括球状牙、切牙缺口和双牙形成）。牙根短，伴有多样的牙髓表型（包括牛齿牙和火焰形牙髓）、牙釉质发育不良和前牙开𬌗也可能相关。"},"tr":{"name":"SMOC2 eksikliğine bağlı atipik dentin displazisi","synonyms":["Mikrodonti ve şekil bozuklukları ile seyreden dentin displazisi tip 1"]}},"xrefs":[{"source":"OMIM","code":"125400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190802","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":1653,"name":"Dentin dysplasia","classifications":[156,197]}],"children":[],"genes":[{"symbol":"SMOC2","name":"SPARC related modular calcium binding 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22152679[PMID]","hgnc":"20323","ensembl":"ENSG00000112562","omim":"607223","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"15243476[PMID]_22152679[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}