{"orpha":747,"name":"Autoimmune pulmonary alveolar proteinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autoimmune PAP","aPAP"],"definition":"A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-747/","orphanet_url":"https://www.orpha.net/en/disease/detail/747","names":{"fr":{"name":"Protéinose alvéolaire pulmonaire auto-immune","synonyms":["PAP auto-immune","aPAP"],"definition":"Pneumopathie interstitielle primaire rare caractérisée par l'accumulation de lipides et de protéines dérivés du surfactant dans les alvéoles pulmonaires en association avec la présence d'anticorps dirigés contre le facteur de stimulation de colonies de macrophages -granulocytes (GM-CSF). La maladie entraîne une altération progressive des échanges gazeux et une insuffisance respiratoire."},"de":{"name":"Pulmonale Alveolarproteinose, autoimmune","synonyms":["PAP, autoimmune","PAP, idiopathische","Pulmonale Alveolarproteinose, idiopathische","aPAP","iPAP"],"definition":"Eine seltene primäre interstitielle Lungenerkrankung, die durch eine Akkumulation von Surfactant-Phospholipiden und Lipoproteinen in den Alveolen gekennzeichnet ist. Charakteristisch für die Störung sind Antikörper gegen den Granulozyten-Makrophagen-Kolonie-stimulierenden Faktor (GM-CSF)."},"es":{"name":"Proteinosis alveolar pulmonar autoinmune","synonyms":["PAP autoinmune","PAPa"],"definition":"Es una enfermedad pulmonar intersticial primaria poco frecuente caracterizada por el acúmulo de lípidos y proteínas del surfactante en el alvéolo, asociado a la presencia de anticuerpos contra el factor estimulante de colonias de granulocitos y macrófagos (GM-CSF). La enfermedad conduce a un deterioro progresivo del intercambio gaseoso e insuficiencia respiratoria."},"it":{"name":"Proteinosi alveolare polmonare autoimmune","synonyms":["PAP autoimmune","aPAP"],"definition":"Si tratta di una pneumopatia interstiziale primitiva rara, caratterizzata dall'accumulo di lipidi e proteine correlate al surfattante negli alveoli, associata alla presenza di anticorpi diretti contro il fattore stimolante le colonie dei granulociti e dei macrofagi (GM-CSF). La malattia causa la progressiva compromissione dello scambio gassoso e l'insufficienza respiratoria."},"nl":{"name":"Auto-immune pulmonale alveolaire proteïnose","synonyms":["Auto-immune PAP","aPAP"],"definition":"Een zeldzame primaire interstitiële longziekte, gekenmerkt door accumulatie van lipiden en proteïnen gerelateerd aan surfactant in longblaasjes, in associatie met aanwezigheid van antilichamen tegen granulocyt-macrofaag koloniestimulerende factor (GM-CSF). De ziekte leidt tot progressieve verstoring van gasuitwisseling en respiratoire insufficiëntie."},"pt":{"name":"Proteinose alveolar pulmonar autoimune","synonyms":["PAP autoimune"],"definition":"Doença pulmonar intersticial primária rara caracterizada pelo acumulação de lipídios e proteínas relacionadas com o surfatante nos alvéolos em associação com a presença de anticorpos contra o fator estimulador de colónias de granulócitos-macrófagos (GM-CSF). A doença leva a um compromisso progressivo das trocas gasosas e a insuficiência respiratória."},"pl":{"name":"Autoimmunologiczna proteinoza pęcherzyków płucnych","synonyms":["aPAP","Autoimmunologiczna PAP","Idiopatyczna PAP","Idiopatyczna proteinoza pęcherzyków płucnych","iPAP"]},"cs":{"name":"Autoimunitní plicní alveolární proteinóza","synonyms":["Autoimunitní PAP","Idiopatická PAP","Idiopatická plicní alveolární proteinóza","aPAP","iPAP"]},"uk":{"name":"Аутоімунний альвеолярний протеїноз легень","synonyms":["aPAP","Аутоімунний PAP"],"definition":"A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency."},"zh":{"name":"自身免疫性肺泡蛋白沉积症","synonyms":["特发性肺泡蛋白沉积症"]},"tr":{"name":"Otoimmün pulmoner alveolar proteinoz","synonyms":["aPAP","iPAP","Otoimmün PAP","İdiyopatik PAP","İdiyopatik pulmoner alveolar proteinoz"]}},"xrefs":[{"source":"OMIM","code":"610910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"CB04.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"676409940"},{"source":"MONDO","code":"0012579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970472","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7499","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264740,"name":"Primary interstitial lung disease specific to adulthood","classifications":[184,233]}],"children":[],"genes":[{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"33589587[PMID]","hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.165,"area":"Japan","status":"Validated","source":"30895185[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":2.66,"area":"Japan","status":"Validated","source":"30895185[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":2.66,"area":"Worldwide","status":"Validated","source":"30895185[PMID]_30064481[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.687,"area":"United States","status":"Validated","source":"30064481[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"21632797[PMID]","terms":[{"hpo":"HP:0006517","label":"Intraalveolar phospholipid accumulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010876","label":"Abnormal circulating protein level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002087","label":"Abnormality of the upper respiratory tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045051","label":"Decreased DLCO","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003651","label":"Foam cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025391","label":"Crazy paving pattern on pulmonary HRCT","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very rare (<4-1%)","criteria":null}]}}