{"orpha":412206,"name":"Primary failure of tooth eruption","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PFE","Primary retention of teeth"],"definition":"A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412206/","orphanet_url":"https://www.orpha.net/en/disease/detail/412206","names":{"fr":{"name":"Défaut primaire d'éruption","synonyms":["DPE","Echec primaire d'éruption","PFE"],"definition":"Maladie odontologique génétique rare caractérisée par l'absence d'éruption de dents permanentes non ankylosées, en l'absence d'une obstruction mécanique manifeste. Les dents postérieures sont généralement affectées (avec une atteinte typique de toutes les dents distales par rapport à la dent non éruptée mésiale), donnant lieu à une béance postérieure. Les dents non ankylosées ont tendance à s'ankyloser, et le traitement orthodontique des dents concernées est généralement sans succès."},"de":{"name":"Zahndurchbruchstörung, primäre","synonyms":["PFE"],"definition":"Eine seltene genetisch bedingte Zahnerkrankung, die durch einen ausbleibenden Durchbruch von nicht ankylosierten bleibenden Zähnen ohne Anzeichen einer offensichtlichen mechanischen Obstruktion gekennzeichnet ist. Bevorzugt sind die Seitenzähne betroffen (typischerweise alle Zähne distal des mesialsten nicht durchgebrochenen Zahnes), was zu einem offenen Biss im Seitenzahnbereich führt. Nicht ankylosierte Zähne neigen zur Ankylosierung und eine kieferorthopädische Behandlung der betroffenen Zähne ist in der Regel erfolglos."},"es":{"name":"Fracaso primario de la erupción dentaria","synonyms":["PFE","Retención primaria de los dientes"],"definition":"Es una enfermedad odontológica de base genética poco frecuente caracterizada por un fallo en la erupción de dientes permanentes no anquilosados sin evidencia de una obstrucción mecánica obvia. Los dientes posteriores se ven afectados preferentemente (afectando típicamente a todos los dientes distales al diente no erupcionado más mesial) y resultando en una mordida abierta posterior. Los dientes no anquilosados tienden a anquilosarse, y el tratamiento de ortodoncia de los dientes afectados, por lo general, no resulta efectivo."},"it":{"name":"Deficit primitivo dell'eruzione dei denti","synonyms":["PFE","Ritenzione primitiva dei denti"],"definition":"Si tratta di una malattia odontogena genetica rara, caratterizzata dalla mancata eruzione dei denti permanenti non anchilosati, in assenza di un'evidente ostruzione meccanica. Di solito la malattia colpisce i denti posteriori (con interessamento di tutti i denti distali rispetto al dente maggiormente mesiale non erotto), e si associa al morso aperto posteriore. I denti non anchilosati tendono as anchilosarsi e il trattamento ortodontico dei denti interessati in genere non ha successo."},"nl":{"name":"Primair falen van tanderuptie","synonyms":["PFE","Primaire retentie van de tanden"],"definition":"Een zeldzame genetische aandoening van gebit, gekarakteriseerd door falen van eruptie van niet-geankyloseerde permanente tanden zonder bewijs van duidelijke mechanische obstructie. Voornamelijk posterieure tanden worden getroffen (doorgaans met betrokkenheid van alle tanden distaal van de meest mesiaal gelegen niet-doorgebroken tand), wat resulteert in een posterieur open beet. Niet-geankyloseerde tanden worden vaak geankyloseerd, en orthodontische behandeling van aangetaste tanden is doorgaans niet succesvol."},"pt":{"name":"Falência primária da erupção dentária"},"pl":{"name":"Pierwotny brak wyrżnięcia zęba","synonyms":["PFE","Pierwotne zatrzymanie zębów"]},"cs":{"name":"Primární retence zubů","synonyms":["PFE","Primární selhání erupce zubu"]},"uk":{"name":"Первинне порушення прорізування зубів","synonyms":["PFE","Первинна ретенція зубів"],"definition":"A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful."},"zh":{"name":"原发性牙萌出障碍","synonyms":["原发性牙萌出障碍"]},"tr":{"name":"Primer diş çıkarma yetersizliği","synonyms":["PFE","primer diş tutulması"]}},"xrefs":[{"source":"OMIM","code":"125350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA07.6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007434","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565114","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852222","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":[],"genes":[{"symbol":"PTH1R","name":"parathyroid hormone 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19061984[PMID]_23910200[PMID]_20830195[PMID]","hgnc":"9608","ensembl":"ENSG00000160801","omim":"168468","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":314.0,"area":"Worldwide","status":"Validated","source":"29544499[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29544499[PMID]_ORPHANET"}],"phenotypes":null}