{"Name":"Anti-neutrophil cytoplasmic antibody-associated vasculitis","DiseaseID__c":"GARD:0013011","id":13011,"encodedName":"anti-neutrophil-cytoplasmic-antibody-associated-vasculitis","IsDeleted":false,"Disease_Name_Full__c":"Anti-neutrophil cytoplasmic antibody-associated vasculitis","Xref_IDs__c":"C2717865; D056648; MEDGEN:403453; MONDO:0015492; ORPHA:156152","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015492","Disease_Description__c":"Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.","GARD_Name__c":"Anti-neutrophil cytoplasmic antibody-associated vasculitis","GARD_Synonym__c":"aav; anca-associated vasculitis; antineutrophil cytoplasmic antibody (anca) positive vasculitis; antineutrophil cytoplasmic antibody positive vasculitis; antineutrophil cytoplasmic antibody-associated vasculitis","Curated_Disease_Description_Source__c":"GARD:0013011","Curated_Disease_Description__c":"Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of diseases (granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis and microscopic polyangiitis), characterized by destruction and inflammation of small vessels. The clinical signs vary and affect several organs, such as the kidney, stomach, intestine, and lung. Skin lesions, such as purpura and urticaria, result when blood from small vessels leaks under the skin. AAV occurs when neutrophils attack small and medium vessels of the body. The underlying reason for this remains unclear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:156152","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015492","ORPHANET_ID__c":"ORPHA:156152","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Vasculitis asociada a anticuerpos anticitoplasma de neutrófilo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"vasculitis asociada a anticuerpos anticitoplasma de neutrófilo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of diseases (granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis and microscopic polyangiitis), characterized by destruction and inflammation of small vessels. The clinical signs vary and affect several organs, such as the kidney, stomach, intestine, and lung. Skin lesions, such as purpura and urticaria, result when blood from small vessels leaks under the skin. AAV occurs when neutrophils attack small and medium vessels of the body. The underlying reason for this remains unclear.","Curated_Disease_Description_Source__c":"GARD:0013011","GARD_Synonym__c":"aav; anca-associated vasculitis; antineutrophil cytoplasmic antibody (anca) positive vasculitis; antineutrophil cytoplasmic antibody positive vasculitis; antineutrophil cytoplasmic antibody-associated vasculitis","Name":"Anti-neutrophil cytoplasmic antibody-associated vasculitis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Vasculitis Foundation","Website__c":"https://www.vasculitisfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2717865","Source__c":"C2717865","Xref__c":"C2717865"},{"URL__c":"https://www.orpha.net/en/disease/detail/156152","Source__c":"C2717865; MONDO:0015492; ORPHA:156152","Xref__c":"ORPHA:156152"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=403453","Source__c":"C2717865","Xref__c":"MEDGEN:403453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056648","Source__c":"C2717865; MONDO:0015492","Xref__c":"D056648"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015492","Source__c":"GARD:0013011","Xref__c":"MONDO:0015492"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722191003","Source__c":"C2717865","Xref__c":"722191003"}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Rheumatology","Vascular Medicine"]},"synonyms":["aav"," anca-associated vasculitis"," antineutrophil cytoplasmic antibody (anca) positive vasculitis"," antineutrophil cytoplasmic antibody positive vasculitis"," antineutrophil cytoplasmic antibody-associated vasculitis"],"spanishId":13525,"spanishName":"vasculitis-asociada-a-anticuerpos-anticitoplasma-de-neutrofilo"}