{"orpha":900,"name":"Granulomatosis with polyangiitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GPA","Wegener granulomatosis"],"definition":"A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-900/","orphanet_url":"https://www.orpha.net/en/disease/detail/900","names":{"fr":{"name":"Granulomatose avec polyangéite","synonyms":["GPA","Granulomatose de Wegener","Maladie de Wegener"],"definition":"Vascularite systémique rare associée à des anticorps anticytoplasme des polynucléaires neutrophiles (ANCA). Elle est caractérisée par une nécrose inflammatoire des vaisseaux de petit et moyen calibre (capillaires, veinules et artérioles), qui entraîne une ischémie tissulaire."},"de":{"name":"Granulomatose mit Polyangiitis","synonyms":["Wegener-Granulomatose","GPA"],"definition":"Eine seltene, mit anti-neutrophilen zytoplasmatischen Antikörpern (ANCA) assoziierte Vaskulitis, die durch eine nekrotisierende Entzündung kleiner und mittlerer Gefäße (Kapillaren, Venolen und Arteriolen) gekennzeichnet ist und zu einer Gewebeischämie führt."},"es":{"name":"Granulomatosis con poliangeítis","synonyms":["GPA","Granulomatosis de Wegener"],"definition":"Es una vasculitis poco frecuente asociada a anticuerpos anti-citoplasma de neutrofilos (ANCA) caracterizada por una inflamación necrotizante de los pequeños y medianos vasos (capilares, vénulas y arteriolas) que produce isquemia tisular."},"it":{"name":"Granulomatosi con poliangioite","synonyms":["GPA","Granulomatosi di Wegener"],"definition":"E' una vasculite rara associata agli anticorpi anti-citoplasma dei neutrofili (ANCA), caratterizzata da un'infiammazione necrotizzante dei vasi piccoli e medi (capillari, venule e arteriole), che esita in un'ischemia dei tessuti."},"nl":{"name":"Granulomatose met polyangiitis","synonyms":["GPA","Wegener-granulomatose"],"definition":"Een zeldzame antineutrofiele cytoplasmatische antistoffen (ANCA)-geassocieerde vasculitis die gekarakteriseerd wordt door necrotiserende inflammatie van kleine en middelgrote bloedvaten (capillairen, venulen en arteriolen), met weefselischemie tot gevolg."},"pt":{"name":"Granulomatose com poliangeíte","synonyms":["Granulomatose de Wegener"],"definition":"A granulomatose de Wegener é uma vasculite necrotizante dos pequenos vasos caracterizada pela associação de inflamação da parede vascular e perivascular e granulomatose extravascular."},"pl":{"name":"Ziarniniakowatość z zapaleniem naczyń","synonyms":["GPA","Ziarniniak Wegenera"]},"cs":{"name":"Granulomatóza s polyangiitidou","synonyms":["GPA","Wegenerova granulomatóza"]},"uk":{"name":"Гранулематоз з поліангіїтом","synonyms":["GPA"],"definition":"A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia."},"zh":{"name":"肉芽肿性血管炎","synonyms":["GPA"]},"tr":{"name":"Polyangiitli granülomatoz","synonyms":["GPA"]}},"xrefs":[{"source":"OMIM","code":"608710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M31.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A44.A1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1020056159"},{"source":"MONDO","code":"0012105","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495801","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7880","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156152,"name":"Anti-neutrophil cytoplasmic antibody-associated vasculitis","classifications":[184,196,198,231,233]},{"orpha":166484,"name":"Inflammatory and autoimmune disease with epilepsy","classifications":[181]},{"orpha":209007,"name":"Systemic inflammatory disease associated with an acquired peripheral neuropathy","classifications":[181]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[],"genes":[{"symbol":"CTLA4","name":"cytotoxic T-lymphocyte associated protein 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22508400[PMID]","hgnc":"2505","ensembl":"ENSG00000163599","omim":"123890","loci":["2q33.2"]},{"symbol":"HLA-DPA1","name":"major histocompatibility complex, class II, DP alpha 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28029757[PMID]","hgnc":"4938","ensembl":"ENSG00000231389","omim":"142880","loci":["6p21.32"]},{"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":"23740775[PMID]","hgnc":"4940","ensembl":"ENSG00000223865","omim":"142858","loci":["6p21.32"]},{"symbol":"PRTN3","name":"proteinase 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22808956[PMID]","hgnc":"9495","ensembl":"ENSG00000196415","omim":"177020","loci":["19p13.3"]},{"symbol":"PTPN22","name":"protein tyrosine phosphatase non-receptor type 22","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22508400[PMID]_22696186[PMID]","hgnc":"9652","ensembl":"ENSG00000134242","omim":"600716","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.35,"area":"New Zealand","status":"Validated","source":"16368729[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.93,"area":"Finland","status":"Validated","source":"18799060[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.85,"area":"Europe","status":"Validated","source":"16859601[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Europe","status":"Validated","source":"16859601[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United Kingdom","status":"Validated","source":"10693883[PMID]_11156552[PMID]_22258386[PMID]_19790134[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Sweden","status":"Validated","source":"17553910[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.86,"area":"Germany","status":"Validated","source":"15696553[PMID]_25805746[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.37,"area":"France","status":"Validated","source":"14872461[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.19,"area":"Sweden","status":"Validated","source":"16960922[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.49,"area":"Spain","status":"Validated","source":"11156552[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.51,"area":"Norway","status":"Validated","source":"11083271[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Norway","status":"Validated","source":"11760724[PMID]_11083271[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"Australia","status":"Validated","source":"18771432[PMID]_25805746[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"United States","status":"Validated","source":"8546743[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.94,"area":"China","status":"Validated","source":"26989646[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Lithuania","status":"Validated","source":"15647446[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.66,"area":"Greece","status":"Validated","source":"19604432[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Italy","status":"Validated","source":"24932888[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Canada","status":"Validated","source":"23838025[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Japan","status":"Validated","source":"21798892[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Taiwan, Province of China","status":"Validated","source":"24560699[PMID]_25805746[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Japan","status":"Validated","source":"17699321[PMID]_25805746[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.43,"area":"Italy","status":"Validated","source":"24932888[PMID]_25805746[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Denmark","status":"Validated","source":"17582741[PMID]_25805746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"United States","status":"Validated","source":"28881446[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-02","source":"32491759[PMID]","terms":[{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Very frequent 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insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000071","label":"Ureteral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}