{"orpha":375,"name":"Anti-glomerular basement membrane disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anti-GBM syndrome"],"definition":"A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-375/","orphanet_url":"https://www.orpha.net/en/disease/detail/375","names":{"fr":{"name":"Maladie des anticorps anti-membrane basale glomérulaire","synonyms":["Glomérulonéphrite médiate anti-GBM","Maladie à anticorps anti-GBM"],"definition":"Vascularite rare et fulminante des petits vaisseaux qui affecte les lits capillaires des reins et des poumons et qui se caractérise par la présence d'anticorps anti-membrane basale glomérulaire (MBG) et, dans sa forme complète, anti-membrane basale alvéolaire (MBA). Par conséquent, elle peut se manifester par une glomérulonéphrite rapidement progressive (néphrite anti-MBG) ou par un syndrome pneumorénal avec hémorragie pulmonaire sévère."},"de":{"name":"Antikörper vermittelte Krankheit der glomerulären Basalmembran","synonyms":["Anti-Basalmembran-Glomerulonephritis","Anti-GBM-Nephritis","Anti-GBM-Syndrom"],"definition":"Eine fulminante Vaskulitis der kleinen Gefäße, die die Kapillarbetten der Nieren und der Lunge befällt und durch das Vorhandensein von Antikörpern gegen die glomeruläre Basalmembran (GBM) und, in ihrer Vollform, gegen die alveoläre Basalmembran (ABM) gekennzeichnet ist. Sie kann sich daher als rasch fortschreitende isolierte Glomerulonephritis (Anti-GBM-Nephritis) oder als pulmonal-renales Syndrom mit schweren Lungenblutungen manifestieren."},"es":{"name":"Enfermedad por anticuerpos antimembrana basal glomerular","synonyms":["Síndrome anti-MBG"],"definition":"Es una vasculitis fulminante de pequeño vaso poco frecuente que afecta al lecho capilar de los riñones y los pulmones y que se caracteriza por la presencia de anticuerpos anti-membrana basal glomerular (MBG) y, en su forma completa, de anticuerpos anti-membrana basal alveolar (MBA). En consecuencia, puede manifestarse como glomerulonefritis rápidamente progresiva aislada (nefritis anti-MBG) o como síndrome pulmonar-renal con hemorragia pulmonar grave."},"it":{"name":"Malattia da anticorpi anti membrana basale glomerulare","synonyms":["Sindrome da anti-GBM","Sindrome di Goodpasture"],"definition":"Si tratta di una vasculite dei piccoli vasi fulminante e rara, che colpisce i letti capillari dei reni e dei polmoni, ed è caratterizzata dalla presenza di anticorpi anti-membrana basale glomerulare (GBM) e, nella sua forma conclamata, da anticorpi anti-membrana basale alveolare (ABM). La malattia può manifestarsi sotto forma di glomerulonefrite isolata a progressione rapida (nefrite anti-GBM) o di sindrome polmonare-renale con grave emorragia polmonare."},"nl":{"name":"Antiglomerulaire-basaalmembraanziekte","synonyms":["Anti-GBM-syndroom"],"definition":"Een zeldzame, fulminante vasculitis van kleine bloedvaten die capillaire bedden van nieren en longen aantast, gekarakteriseerd door de aanwezigheid van antilichamen tegen glomerulair basaal membraan (GBM) en, in de volwaardige vorm, tegen alveolair basaal membraan (ABM). Het kan zich bijgevolg manifesteren als een snel progressieve, geïsoleerde glomerulonefritis (anti-GBM-nefritis) of als een pulmonaal-renaal syndroom met ernstige longbloeding."},"pt":{"name":"Doença de anticorpos anti-membrana basal glomerular","synonyms":["Glomerulonefrite por anticorpos anti-membrana basal glomerular","Síndrome pneumo-renal de Goodpasture"]},"pl":{"name":"Zespół Goodpasture'a","synonyms":["Choroba wywołana przeciwciałami przeciwko błonie podstawnej kłębuszków nerkowych"]},"cs":{"name":"Antirenální glomerulonefritida","synonyms":["Anti-GBM syndrom","Goodpastureův syndrom"]},"uk":{"name":"Хвороба антигломерулярної базальної мембрани","synonyms":["Анти-GBM-синдром","Синдром Гудпасчера"],"definition":"A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage."},"zh":{"name":"抗肾小球基膜疾病","synonyms":["Goodpasture综合征"]},"tr":{"name":"Anti-glomerüler bazal membran hastalığı","synonyms":["Anti-GBM sendromu","Goodpasture sendromu"]}},"xrefs":[{"source":"OMIM","code":"233450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M31.0+","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"N08.5*","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"MF85","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"591736785"},{"source":"MONDO","code":"0009303","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019867","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2551","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081981","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156146,"name":"Predominantly small-vessel vasculitis","classifications":[196,198]},{"orpha":264949,"name":"Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease","classifications":[184,233]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"China","status":"Validated","source":"15056270[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.179,"area":"New Zealand","status":"Validated","source":"22032242[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018 [OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}