{"orpha":729,"name":"Polycythemia vera","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired primary erythrocytosis","Osler-Vaquez disease","PV","Polycythemia rubra vera","Vaquez disease"],"definition":"A rare acquired myeloproliferative neoplasm characterized by an elevated absolute red blood cell mass (RBCM) caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-729/","orphanet_url":"https://www.orpha.net/en/disease/detail/729","names":{"fr":{"name":"Polyglobulie de Vaquez","synonyms":["Erythrocytose primitive acquise","Maladie d'Osler-Vaquez","Maladie de Vaquez","Polyglobulie essentielle","Polycythémie vraie","Polycythémie rubra vera"],"definition":"Néoplasie myéloproliférative acquise rare, caractérisée par une augmentation de la masse érythrocytaire absolue due à une production incontrôlée de globules rouges, fréquemment associée à une production incontrôlée de globules blancs et de plaquettes."},"de":{"name":"Polycythaemia vera","synonyms":["Erythrozytose, erworbene primäre","PV","Polycythaemia rubra vera","Polyzythämie, echte","Vaquez-Krankheit","Vaquez-Osler-Krankheit"],"definition":"Eine seltene erworbene myeloproliferative Neoplasie, die gekennzeichnet sit durch erhöhte absolute Erythrozytenmasse (RBCM) als Folge unkontrollierter Erythropoese, häufig in Verbindung mit unkontrollierter Produktion von Leukozyten und Thrombozyten."},"es":{"name":"Policitemia vera","synonyms":["Enfermedad de Osler-Vaquez","Enfermedad de Vaquez","Eritrocitosis primaria adquirida","PV","Policitemia rubra vera"],"definition":"Es una neoplasia mieloproliferativa adquirida poco frecuente caracterizada por un incremento absoluto de la masa eritrocitaria (ME) causado por la producción descontrolada de glóbulos rojos, frecuentemente asociada con la producción descontrolada de glóbulos blancos y plaquetas."},"it":{"name":"Policitemia vera","synonyms":["Eritrocitosi primitiva acquisita","Malattia di Osler-Vaquez","Malattia di Vaquez","PV","Policitemia rubra vera"]},"nl":{"name":"Polycythemia vera","synonyms":["PV","Polycythaemia vera","Polycythemia rubra vera","Verworven primaire erytrocytose","Ziekte van Osler-Vaquez","Ziekte van Vaquez"],"definition":"Een zeldzaam verworven myeloproliferatief neoplasma, gekenmerkt door een verhoogd absolute massa van rode bloedcellen (RBCM) veroorzaakt door ongecontroleerde productie van rode bloedcellen, vaak geassocieerd met ongecontroleerde productie van witte bloedcellen en bloedplaatjes."},"pt":{"name":"Policitemia vera","definition":"A policitemia vera (PV) é uma doença mieloproliferativa adquirida caracterizada por um aumento absouto da massa de glóbulos vermelhos causada pela produção descontrolada de glóbulos vermelhos, estando tambem frequentemente associada à produção descontrolada de glóbulos brancos e de plaquetas."},"pl":{"name":"Czerwienica prawdziwa","synonyms":["Choroba Oslera i Vaqueza","Choroba Vaqueza","Erythremia","Nabyta erytrocytoza pierwotna","Polycythemia rubra vera","PV"],"definition":"Rzadki nabyty nowotwór mieloproliferacyjny, charakteryzujący się podwyższoną bezwzględną masą czerwonych krwinek wskutek ich niekontrolowanej produkcji, często powiązany z niekontrolowaną produkcją krwinek białych i płytek krwi."},"cs":{"name":"Polycythaemia vera","synonyms":["Získaná primární erytrocytóza","Oslerova-Vaquezova nemoc","PV","Polycythemia rubra vera","Vaquezova choroba","Osler-Vaquezova nemoc"]},"uk":{"name":"Поліцитемія стправжня","synonyms":["Набутий первинний еритроцитоз","Хвороба Ослера-Вакеса","Поліцитемія червоного кольору","PV","Хвороба Вакеза"],"definition":"Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production."},"zh":{"name":"真性红细胞增多症","synonyms":["获得性原发性红细胞增多症"]},"tr":{"name":"Polisitemia vera","synonyms":["PV","Vaquez hastalığı","Osler-Vaquez hastalığı","Polisitemi rubra vera","Edinsel primer eritrositoz"]}},"xrefs":[{"source":"OMIM","code":"263300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D45","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A20.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"818364947"},{"source":"MONDO","code":"0009891","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9891","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032463","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7422","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036057","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98427,"name":"Erythrocytosis","classifications":[194]},{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"JAK2","name":"Janus kinase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"6192","ensembl":"ENSG00000096968","omim":"147796","loci":["9p24.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Europe","status":"Validated","source":"[EXPERT]_European Medicines Agency 2014[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Italy","status":"Validated","source":"13679323[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-24","source":"23827419[PMID]_31151982[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011974","label":"Myelofibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002639","label":"Budd-Chiari syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033842","label":"Early satiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032147","label":"Erythromelalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004417","label":"Intermittent claudication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030242","label":"Portal vein thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}