{"orpha":447740,"name":"Aggressive periodontitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AgP","Juvenile periodontitis","Susceptibility to localized juvenile periodontitis"],"definition":"A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447740/","orphanet_url":"https://www.orpha.net/en/disease/detail/447740","names":{"fr":{"name":"Parodontite agressive","synonyms":["AgP","Parodontite juvénile","Susceptibilité à la périodontite juvénile localisée"],"definition":"Déficit fonctionnel rare des neutrophiles, caractérisé par une susceptibilité accrue à la périodontite agressive chez des sujets par ailleurs jeunes et en bonne santé, dû à une diminution du chimiotactisme des leucocytes polymorphonucléaires vis-à-vis des peptides formylés bactériens. Rapidement progressive, la périodontite détruit progressivement le tissu parodontal et empêche son adhérence à la dent."},"de":{"name":"Aggressive Parodontitis","synonyms":["AgP","Juvenile Parodontitis","Suszeptibilität für lokalisierte juvenile Parodontitis"],"definition":"Ein seltener funktioneller Neutrophilendefekt, der durch eine erhöhte Anfälligkeit für aggressive Parodontitis bei ansonsten jungen, gesunden Menschen gekennzeichnet ist und auf eine gestörte Chemotaxis polymorphkerniger Leukozyten gegenüber bakteriellen Formylpeptiden zurückzuführen ist. Die Parodontitis schreitet schnell voran und führt zu einer fortschreitenden Zerstörung des Zahnfleischgewebes und zum Verlust des Zahnhalteapparats."},"es":{"name":"Periodontitis agresiva","synonyms":["Periodontitis juvenil","Susceptibilidad a la periodontitis juvenil localizada"],"definition":"Es un defecto funcional poco frecuente de los neutrófilos caracterizado por una mayor susceptibilidad a la periodontitis agresiva en individuos jóvenes y sanos, causada por una alteración de la quimiotaxis de los leucocitos polimorfonucleares hacia los formil péptidos bacterianos. La periodontitis progresa rápidamente resultando en una destrucción progresiva del tejido periodontal y pérdida de la inserción."},"it":{"name":"Parodontite aggressiva","synonyms":["AgP","Periodontite giovanile","Suscettibilità alla periodontite giovanile localizzata"],"definition":"Si tratta di un difetto funzionale raro dei neutrofili, caratterizzato dalla predisposizione alla parodontite aggressiva, in soggetti giovani e per il resto sani, causata da alterazioni della chemiotassi dei leucociti polimorfonucleati verso i formilpeptidi batterici. La parodontite ha una progressione rapida, con distruzione progressiva del tessuto parodontale e perdita dell'aderenza."},"nl":{"name":"Agressieve parodontitis","synonyms":["AgP","Gevoeligheid voor gelokaliseerde juveniele parodontitis","Juveniele parodontitis"],"definition":"Een zeldzaam functioneel defect van neutrofielen, gekenmerkt door verhoogde susceptibiliteit voor agressieve parodontitis bij jonge, voor het overige gezonde individuen, als gevolg van verstoorde chemotaxis van polymorfonucleaire leukocyten naar bacteriële formylpeptiden. De parodontitis is snel progressief met progressieve destructie van parodontium en verlies van aanhechting."},"pt":{"name":"Susceptibilidade à periodontite juvenil localizada"},"pl":{"name":"Agresywne zapalenie przyzębia","synonyms":["AgP","Juvenile periodontitis","Susceptibility to localized juvenile periodontitis"]},"cs":{"name":"Zvýšená náchylnost k lokalizované juvenilní periodontitidě","synonyms":["AgP","Juvenile periodontitis","Susceptibility to localized juvenile periodontitis"]},"uk":{"name":"Схильність до локалізованого ювенільного пародонтиту","definition":"A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss."},"zh":{"name":"局部青少年型牙周炎易感"},"tr":{"name":"Lokalize jüvenil periodontite duyarlılık"}},"xrefs":[{"source":"OMIM","code":"170650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608526","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D71","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":674648,"name":"Syndrome with congenital phagocyte functional defect as a major feature","classifications":[156,195]}],"children":[],"genes":[{"symbol":"FPR1","name":"formyl peptide receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19722801[PMID]","hgnc":"3826","ensembl":"ENSG00000171051","omim":"136537","loci":["19q13.41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[],"phenotypes":null}