{"orpha":922,"name":"Familial nasal acilia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-922/","orphanet_url":"https://www.orpha.net/en/disease/detail/922","names":{"fr":{"name":"Absence familiale de cils nasaux","definition":"L'absence familiale de cils nasaux est une maladie génétique oto-rhino-laryngologique rare caractérisée par une morbidité respiratoire due au manque de cils sur les cellules épithéliales des voies respiratoires. La maladie se manifeste à partir de la naissance par une détresse respiratoire, une pneumonie néonatale, une dyspnée, une atélectasie lobaire et une bronchiectasie. Les troubles typiques se présentant tout au long de la vie sont des infections récurrentes des voies respiratoires supérieures et inférieures, une toux chronique humide, ainsi que des sinusites, otites et rhinites chroniques."},"de":{"name":"Syndrom der fehlenden Nasenzilien, familiäre Form","definition":"Eine seltene genetische otorhinolaryngologische Erkrankung, die durch eine respiratorische Morbidität aufgrund fehlender Zilien auf den Epithelzellen der Atemwege gekennzeichnet ist. Die Erkrankung manifestiert sich von Geburt an mit Atemnot, neonataler Pneumonie, Dyspnoe, lobärer Atelektase und Bronchiektasie. Wiederkehrende Infektionen der oberen und unteren Atemwege, chronischer feuchter Husten und chronische Sinusitis, Otitis und Rhinitis sind typische lebenslange Beschwerdebilder."},"es":{"name":"Acilia nasal familiar","definition":"La acilia nasal familiar es una enfermedad otorrinolaringológica rara de causa genética, caracterizada por morbilidad respiratoria debida a la falta de cilios en las células epiteliales del tracto respiratorio. La enfermedad se manifiesta desde el nacimiento con dificultad respiratoria, neumonía neonatal, disnea, atelectasia lobular y bronquiectasia. Las infecciones recurrentes del tracto respiratorio superior e inferior, la tos húmeda crónica y la sinusitis, la otitis y la rinitis crónicas son condiciones típicas que se presentan durante toda la vida."},"it":{"name":"Assenza delle ciglia nasali, forma familiare","definition":"L'assenza familiare delle ciglia nasali è una malattia genetica rara di interesse otorinolaringoiatrico; è caratterizzata da morbilità respiratoria secondaria all'assenza delle ciglia sulle cellule epiteliali delle vie respiratorie. La malattia esordisce alla nascita con distress respiratorio, polmonite neonatale, dispnea, atelettasia lobare e bronchiectasia. I segni caratteristici costanti durante la vita del paziente sono le infezioni ricorrenti delle vie respiratorie superiori e inferiori, la tosse umida cronica, la sinusite, l'otite e la rinite cronica."},"nl":{"name":"Familiale nasale acilie","definition":"Familiale nasale acilie is een zeldzame otorinolaryngologische ziekte die gekarakteriseerd wordt door respiratoire morbiditeit als gevolg van een gebrek aan cilia op de epitheelcellen van de ademhalingswegen. De ziekte manifesteert zich vanaf de geboorte met respiratoire insufficiëntie, neonatale pneumonie, dyspnoe, lobaire atelectase en bronchiëctasie. Terugkerende infecties van de bovenste en onderste luchtwegen, chronische natte hoest, en chronische sinusitis, otitis en rinitis zijn typische, levenslang voorkomende condities."},"pt":{"name":"Acilia nasal familiar"},"pl":{"name":"Rodzinny brak rzęsek w nosie"},"cs":{"name":"Familiární nazální acilie","synonyms":["Familiární chybění nazálních řasinek"]},"uk":{"name":"Сімейна відсутність назальних війок","definition":"Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions."},"zh":{"name":"家族性鼻腔无纤毛症"},"tr":{"name":"Ailesel nazal asilia"}},"xrefs":[{"source":"ICD-10","code":"Q30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019634","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706505","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2254","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":466084,"name":"Genetic otorhinolaryngologic disease","classifications":[156]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"4002006[PMID]_8813877[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4002006[PMID]_8813877[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-01","source":"8813877[PMID]_4002006[PMID]","terms":[{"hpo":"HP:0005938","label":"Abnormal respiratory motile cilium morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002257","label":"Chronic rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null}]}}