{"orpha":1163,"name":"Aspergillosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1163/","orphanet_url":"https://www.orpha.net/en/disease/detail/1163","names":{"fr":{"name":"Aspergillose","definition":"Maladie infectieuse rare causée par l'inhalation d'un champignon opportuniste, du genre <i>Aspergillus</i>, pouvant entraîner les manifestations suivantes : aspergillose bronchopulmonaire allergique (ABPA), aspergillome, aspergillose pulmonaire chronique nécrosante (APCN) et aspergillose invasive (AI). L'aspergillome survient chez les patients atteints d'une maladie pulmonaire cavitaire et se traduit par une masse fongique dont la présentation clinique varie d'asymptomatique à potentiellement létale (hémoptysie massive). L'APCN se manifeste par une pneumonie subaiguë chez les patients présentant une maladie sous-jacente. L'AI est une aspergillose disséminée qui finit par envahir d'autres organes. L'aspergillose cutanée est généralement la manifestation dermatologique de l'AI qui se présente sous la forme de plaques ou de papules allant d'érythémateuses à violacées, souvent caractérisées par un ulcère nécrotique central ou une escarre."},"de":{"name":"Aspergillose","definition":"Eine seltene Infektionskrankheit, die durch die Inhalation des opportunistischen Pilzes <i>Aspergillus</i> verursacht wird und zu folgenden Erscheinungsformen führen kann: Allergische bronchopulmonale Aspergillose (ABPA), Aspergillom, chronische nekrotisierende pulmonale Aspergillose (CNPA) und invasive Aspergillose (IA). Das Aspergillom tritt bei Patienten mit kavitärer Lungenerkrankung auf und führt zu einer Pilzmasse mit unterschiedlichen klinischen Erscheinungsbildern von asymptomatisch bis lebensbedrohlich (massive Hämoptysen). CNPA manifestiert sich als subakute Lungenentzündung bei Patienten mit einer Grunderkrankung. IA ist eine disseminierte Aspergillose, die schließlich andere Organe befällt. Die kutane Aspergillose ist in der Regel die dermatologische Manifestation der IA, die sich als erythematöse bis violette Plaques oder Papeln manifestiert, die häufig durch ein zentrales nekrotisches Ulkus oder Schorf gekennzeichnet sind."},"es":{"name":"Aspergilosis","definition":"Es una enfermedad infecciosa poco frecuente producida por la inhalación del hongo oportunista <i>aspergillus</i> que puede derivar en las siguientes manifestaciones clínicas: aspergilosis broncopulmonar alérgica (ABPA), aspergiloma, aspergilosis pulmonar necrotizante crónica (CNPA) y aspergilosis invasiva (IA). Se presenta en afectados por una enfermedad pulmonar cavitaria y resulta en una masa fúngica con manifestaciones clínicas variables, desde asintomática hasta potencialmente mortal (hemoptisis masiva). La enfermedad se manifiesta como neumonía subaguda en afectados con enfermedad subyacente. La IA se disemina como aspergilosis, invadiendo eventualmente otros órganos. La aspergilosis cutánea suele ser la manifestación dermatológica de la IA que se presenta con placas o pápulas eritematosas a violáceas y, con frecuencia, caracterizadas por una úlcera o escara necrótica central."},"it":{"name":"Aspergillosi","definition":"L'aspergillosi è una malattia infettiva rara causata dall'inalazione del fungo opportunistico <i>aspergillus</i> . I segni clinici comprendono l'aspergillosi broncopolmonare allergica (ABPA), l'aspergilloma, l'aspergillosi polmonare necrotizzante cronica (CNPA) e l'aspergillosi invasiva (IA). L'aspergilloma colpisce i pazienti che presentano lesioni cavitarie polmonari preesistenti. La malattia si presenta sotto forma di massa fungina ed è caratterizzata da un quadro clinico variabile. I pazienti possono essere asintomatici o presentare segni clinici potenzialmente letali (emottisi grave). La CNPA si manifesta sotto forma di polmonite subacuta nei pazienti con malattia preesistente. L'IA è un'aspergillosi disseminata che invade altri organi. Di solito, l'aspergillosi cutanea è la forma dermatologica dell'IA che si manifesta con placche o papule eritematose o violacee, spesso caratterizzate da un'ulcera o un'escara centrale necrotica."},"nl":{"name":"Aspergillose","definition":"Een zeldzame infectieziekte veroorzaakt door inademing van de opportunistische schimmel <i>aspergillus</i>, wat kan leiden tot de volgende manifestaties: allergische bronchopulmonale aspergillose (ABPA), aspergilloom, chronische necrotiserende pulmonale aspergillose (CNPA), en invasieve aspergillose (IA). Aspergilloom komt voor bij patiënten met cavitaire longziekte en leidt tot een fungale massa met variabele klinische presentaties gaande van asymptomatisch tot levensbedreigend (massale hemoptoë). CNPA manifesteert zich als subacute pneumonie in patiënten met onderliggende ziekte. IA is verspreide aspergillose die op termijn andere organen binnendringt. Cutane aspergillose is doorgaans de dermatologische manifestatie van IA en manifesteert zich als erythemateuze tot paarse plaques of papels, vaak gekarakteriseerd door een centrale necrotische ulcus of eschar."},"pt":{"name":"Aspergilose"},"pl":{"name":"Aspergiloza"},"cs":{"name":"Aspergilóza"},"uk":{"name":"Аспергільоз","definition":"A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar."},"zh":{"name":"曲霉菌病"},"tr":{"name":"Aspergilloz"}},"xrefs":[{"source":"OMIM","code":"614079","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"B44.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B44.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B44.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B44.7","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B44.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"B44.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1F20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1913468488"},{"source":"ICD-11","code":"1F20.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1314810340"},{"source":"ICD-11","code":"1F20.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"2043496606"},{"source":"MONDO","code":"0005657","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0004030","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5856","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10003488","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":163591,"name":"Rare mycosis","classifications":[203]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-01","source":"21881144[PMID]_26897064[PMID]","terms":[{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020153","label":"Positive blood 1,3 beta glucan test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032016","label":"Abnormal sputum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032177","label":"Parenchymal consolidation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002031","label":"Abnormal esophagus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002207","label":"Diffuse reticular or finely nodular infiltrations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006516","label":"Hypersensitivity pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020103","label":"Invasive pulmonary aspergillosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031417","label":"Rhinorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005607","label":"Abnormal tracheobronchial morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011450","label":"Unusual CNS infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011531","label":"Vitritis","frequency":"Very rare (<4-1%)","criteria":null}]}}