{"orpha":1959,"name":"Evans syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immune pancytopenia","Autoimmune hemolytic anemia and autoimmune thrombocytopenia"],"definition":"A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1959/","orphanet_url":"https://www.orpha.net/en/disease/detail/1959","names":{"fr":{"name":"Syndrome d'Evans","synonyms":["Anémie hémolytique et thrombocytopénie autoimmunes","Pancytopénie auto-immune"],"definition":"Le syndrome d'Evans est un trouble hématologique chronique rare caractérisé par l'association simultanée ou séquentielle d'une anémie hémolytique auto-immune (AHAI ; un trouble dans lequel les anticorps sont dirigés contre les globules rouges, causant une anémie de gravité variable), d'un purpura thrombocytopénique immunologique (PTI ; un trouble de la coagulation dans lequel les anticorps sont dirigés contre les plaquettes, ce qui provoque des épisodes hémorragiques), et parfois une neutropénie auto-immune, sans étiologie connue."},"de":{"name":"Evans-Syndrom","synonyms":["Autoimmune hämolytische Anämie und Immunthrombozytopenie","Immune Panzytopenie"],"definition":"Eine seltene chronische hämatologische Erkrankung, die durch die gleichzeitige oder aufeinander folgende Assoziation einer autoimmunen hämolytischen Anämie (AIHA; eine Erkrankung, bei der Autoantikörper gegen rote Blutkörperchen gerichtet sind und eine Anämie unterschiedlichen Schweregrades verursachen) mit einer immunthrombozytopenischen Purpura (ITP; eine Gerinnungsstörung, bei der Autoantikörper gegen Blutplättchen gerichtet sind und hämorrhagische Episoden verursachen) und gelegentlich einer autoimmunen Neutropenie gekennzeichnet ist, ohne dass eine zugrunde liegende Ätiologie bekannt ist."},"es":{"name":"Síndrome de Evans","synonyms":["Anemia hemolítica autoinmune y trombocitopenia autoinmune","Pancitopenia inmune"],"definition":"Es un trastorno hematológico crónico poco frecuente caracterizado, en ausencia de una etiología subyacente conocida, por la asociación simultánea o secuencial de anemia hemolítica autoinmune (AHA, un trastorno en el que los autoanticuerpos están dirigidos contra los glóbulos rojos causando anemia de diversos grados de intensidad) con púrpura trombocitopénica inmune (PTI; un trastorno de la coagulación en el cual los autoanticuerpos están dirigidos contra las plaquetas causando episodios hemorrágicos) y, ocasionalmente puede presentar también neutropenia autoinmune."},"it":{"name":"Sindrome di Evans","synonyms":["Anemia emolitica autoimmune e trombocitopenia autoimmune","Pancitopenia immune"]},"nl":{"name":"Syndroom van Evans","synonyms":["Auto-immune hemolytische anemie en auto-immune trombocytopenie","Immuun pancytopenie"],"definition":"Een zeldzame, chronische, hematologische aandoening, gekarakteriseerd door de simultane of sequentiële associatie van auto-immune hemolytische anemie (AIHA; een stoornis waarbij autoantilichamen gericht zijn tegen rode bloedcellen, wat anemie met variabele gradaties van ernst veroorzaakt) met immune trombocytopenie (ITP; een coagulatiestoornis waarbij autoantilichamen gericht zijn tegen bloedplaatjes, wat hemorragische episodes veroorzaakt) en occasioneel met auto-immune neutropenie, in afwezigheid van een gekende onderliggende etiologie."},"pt":{"name":"Síndrome Evans"},"pl":{"name":"Zespół Evansa","synonyms":["Autoimmunologiczna niedokrwistość hemolityczna i autoimmunologiczna trombocytopenia","Pancytopenia immunologiczna"]},"cs":{"name":"Evansův syndrom","synonyms":["Autoimunní hemolytická anémie a autoimunní trombocytopenie","Imunitní pancytopenie"]},"uk":{"name":"Синдром Еванса","synonyms":["Аутоімунна гемолітична анемія та аутоімунна тромбоцитопенія","Імунна панцитопенія"],"definition":"A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology."},"zh":{"name":"Evans综合征","synonyms":["自身免疫性溶血性贫血伴自身免疫性血小板减少"]},"tr":{"name":"Evans sendromu","synonyms":["Bağışıklık pansitopeni","Otoimmün hemolitik anemi ve otoimmün trombositopeni"]}},"xrefs":[{"source":"ICD-10","code":"D69.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A20.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1048228553"},{"source":"MONDO","code":"0016030","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536380","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272126","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6389","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98375,"name":"Autoimmune hemolytic anemia","classifications":[194]},{"orpha":71203,"name":"Autoimmune thrombocytopenia","classifications":[194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-15","source":"26190425[PMID]","terms":[{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null}]}}