{"orpha":60032,"name":"Recurrent respiratory papillomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation vary with the age of patients and the extent of lesions and include dysphonia, chronic cough and recurrent respiratory infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60032/","orphanet_url":"https://www.orpha.net/en/disease/detail/60032","names":{"fr":{"name":"Papillomatose respiratoire récurrente","definition":"Maladie respiratoire rare caractérisée par le développement de papillomes exophytiques affectant la muqueuse des voies aérodigestives supérieures (avec une forte prédilection pour le larynx), due à une infection par le papillomavirus humain. Variant en fonction de l'âge du patient et de l'étendue des lésions, les symptômes initiaux peuvent inclure une dysphonie, une toux chronique et des infections récurrentes des voies respiratoires."},"de":{"name":"Papillomatose, rekurrente respiratorische","definition":"Eine seltene Atemwegserkrankung, die durch die Entwicklung von exophytischen Papillomen gekennzeichnet ist, die die Schleimhaut der oberen Luft- und Speisewege (mit einer starken Prädilektion für den Kehlkopf) betreffen und durch eine Infektion mit dem humanen Papillomavirus verursacht werden. Die Symptome sind je nach Alter der Patienten und Ausmaß der Läsionen unterschiedlich und umfassen Dysphonie, chronischen Husten und wiederkehrende Atemwegsinfektionen."},"es":{"name":"Papilomatosis respiratoria recurrente","definition":"Es una enfermedad respiratoria poco frecuente caracterizada por el desarrollo de papilomas exofíticos que afectan a la mucosa del tracto aero-digestivo superior (con gran predilección por la laringe), causados por una infección por el virus del papiloma humano. Los síntomas de presentación varían en función de la edad de los pacientes y de la extensión de las lesiones, e incluyen disfonía, tos crónica e infecciones respiratorias recurrentes."},"it":{"name":"Papillomatosi respiratoria ricorrente","definition":"La papillomatosi respiratoria ricorrente è una malattia respiratoria rara caratterizzata dallo sviluppo di papillomi esofitici che interessano la mucosa del tratto aero-digestivo superiore (in particolare la laringe); è causata da un'infezione da papilloma virus umano. I sintomi d'esordio sono la raucedine, la tosse cronica, la dispnea, le infezioni ricorrenti delle vie aeree superiori, la polmonite, la disfagia, lo stridore e/o il ritardo della crescita."},"nl":{"name":"Recidiverende respiratoire papillomatose","synonyms":["Larynxpapilloom","RRP"],"definition":"Een zeldzame respiratoire aandoening, gekenmerkt door ontwikkeling van exofytische papillomen, die slijmvlies van bovenste ademhalings- en spijsverteringsstelsel aantasten (met een sterke voorkeur voor de larynx), en veroorzaakt door infectie met humaan papillomavirus. Symptomen bij de presentatie variëren naargelang de leeftijd van de patiënten en de omvang van de laesies, en zijn onder meer dysfonie, chronische hoest en recidiverende luchtweginfecties."},"pt":{"name":"Papilomatose respiratória recorrente","definition":"Doença respiratória rara caracterizada pelo desenvolvimento de papilomas exofíticos, acometendo a mucosa do trato aerodigestivo superior (com forte predileção pela laringe), causada por infeção do vírus do papiloma humano. Os sintomas de apresentação variam com a idade dos doentes e a extensão das lesões e incluem disfonia, tosse crónica e infeções respiratórias recorrentes."},"pl":{"name":"Nawrotowa brodawczakowatość dróg oddechowych"},"cs":{"name":"Rekurentní respirační papilomatóza"},"uk":{"name":"Рецидивуючий респіраторний папіломатоз","definition":"A rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation vary with the age of patients and the extent of lesions and include dysphonia, chronic cough and recurrent respiratory infections."},"zh":{"name":"复发性呼吸道乳头状瘤病"},"tr":{"name":"Tekrarlayan solunum papillomatozu"}},"xrefs":[{"source":"ICD-10","code":"D14.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F00.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"151039887"},{"source":"MONDO","code":"0018955","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535297","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1168198","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"111","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059314","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Netherlands","status":"Validated","source":"EXPERT_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Netherlands","status":"Validated","source":"EXPERT_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.34,"area":"United States","status":"Validated","source":"7488368[PMID]_20553527[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.76,"area":"Denmark","status":"Validated","source":"2350888[PMID]_20553527[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.42,"area":"United Kingdom","status":"Validated","source":"27208548[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_27208548[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-28","source":"25999724[PMID]_29605367[PMID]_29800325[PMID]_30406011[PMID]_28427542[PMID]","terms":[{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002778","label":"Abnormal trachea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Very rare (<4-1%)","criteria":null}]}}