{"orpha":133,"name":"Chronic beryllium disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Berylliosis","Chronic berylliosis","Chronic beryllium lung disease"],"definition":"A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-133/","orphanet_url":"https://www.orpha.net/en/disease/detail/133","names":{"fr":{"name":"Bérylliose chronique","synonyms":["Bérylliose","Bérylliose pulmonaire chronique"],"definition":"Pneumoconiose caractérisée par une inflammation granulomateuse, survenant chez les personnes qui développent une sensibilisation au béryllium (BeS pour beryllium sensitization), une réponse immunitaire à médiation cellulaire induite à la suite d'une exposition professionnelle ou environnementale au béryllium. La BeS est préalable à la maladie pulmonaire qui peut se manifester par une toux sèche chronique, une fatigue, une perte de poids, des douleurs thoraciques et une dyspnée s'installant progressivement."},"de":{"name":"Beryllium-Krankheit, chronische","synonyms":["Berylliose","Berylliose, chronische","Chronische Beryllium-Lungenkrankheit"],"definition":"Eine Pneumokoniose, die durch eine granulomatöse Entzündung gekennzeichnet ist und bei Personen auftritt, die eine Beryllium-Sensibilisierung (BeS) entwickeln, eine zellvermittelte Immunreaktion auf eine umweltbedingte oder berufsbedingte Berylliumexposition. BeS geht der Lungenerkrankung voraus, die mit chronischem trockenem Husten, Müdigkeit, Gewichtsverlust, Brustschmerzen und zunehmender Dyspnoe einhergehen kann."},"es":{"name":"Enfermedad crónica por berilio","synonyms":["Beriliosis","Beriliosis crónica","Enfermedad pulmonar crónica por berilio"],"definition":"Es una neumoconiosis caracterizada por inflamación granulomatosa que se produce en individuos que desarrollan sensibilización al berilio (BeS; por sus siglas en inglés), una respuesta inmunitaria mediada por células ante la exposición ambiental y ocupacional al berilio. La BeS precede a la enfermedad pulmonar, y puede presentarse con tos seca crónica, cansancio, pérdida de peso, dolor torácico y disnea progresiva."},"it":{"name":"Malattia cronica da berillio","synonyms":["Berilliosi cronica","Pneumopatia cronica da berillio","Berilliosi"],"definition":"La malattia cronica da berillio (CBD) è una pneumoconiosi caratterizzata da infiammazione granulomatosa, che si manifesta nelle persone che sviluppano una sensibilizzazione al berillio (BeS), una risposta immunitaria cellulo-mediata da esposizione ambientale e professionale al berillio. La BeS precede la pneumopatia, che può esordire con tosse cronica secca, affaticamento, perdita del peso, dolore toracico e dispnea progressiva."},"nl":{"name":"Chronische berylliumziekte","synonyms":["Berylliose","Chronische berylliose","Chronische berylliumlongziekte"],"definition":"Een pneumoconiose, gekarakteriseerd door granulomateuze inflammatie, die voorkomt bij individuen die beryllium sensitisatie (BeS) ontwikkelen, een cel-gemedieerde immuunreactie tegen blootstelling aan beryllium uit de omgeving of bij beroepsactiviteiten. BeS gaat vooraf aan de longziekte die zich kan manifesteren met chronische droge hoest, vermoeidheid, gewichtsverlies, pijn op de borst, en toenemende dyspneu."},"pt":{"name":"Doença crónica por berílio","definition":"A pneumoconiose, caracterizada por inflamação granulomatosa, ocorre em indivíduos que desenvolvem sensibilização ao berílio (BeS), uma resposta imunitária mediada por células à exposição ambiental e ocupacional ao berílio. A BeS precede a doença pulmonar, que se pode manifestar com tosse seca crónica, fadiga, perda de peso, dor torácica e aumento da dispneia."},"pl":{"name":"Przewlekla choroba berylowa","synonyms":["Beryloza","Przewlekła beryloza","Przewlekła beryloza płuc"]},"cs":{"name":"Berylióza","synonyms":["Chronická berylióza","Chronická berylióza plic","Otrava beryliem","Intoxikace beryliem","Beryliová granulomatóza"]},"uk":{"name":"Хронічна берилієва хвороба","synonyms":["Бериліоз","Хронічний бериліоз","Хронічна берилієва хвороба легень"],"definition":"A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea."},"zh":{"name":"慢性铍病","synonyms":["慢性肺尘肺病"]},"tr":{"name":"Kronik berilyum hastalığı","synonyms":["Berilyoz","Kronik berilyoz","Kronik berilyum akciğer hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"J63.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"CA60.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"212013370"},{"source":"MONDO","code":"0015274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221052","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10004485","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":182098,"name":"Pneumoconiosis","classifications":[184,233]}],"children":[],"genes":[{"symbol":"HLA-DPB1","name":"major histocompatibility complex, class II, DP beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22972925[PMID]","hgnc":"4940","ensembl":"ENSG00000223865","omim":"142858","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"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":"2021-07-13","source":"20981472[PMID]_32768458[PMID]_25007084[PMID]","terms":[{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006516","label":"Hypersensitivity pneumonitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031392","label":"Abnormal proportion of CD4 T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005607","label":"Abnormal tracheobronchial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006527","label":"Lymphocytic interstitial pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030877","label":"Reduced FEV1/FVC ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025393","label":"Reticulonodular pattern on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Very rare (<4-1%)","criteria":null}]}}