{"orpha":3318,"name":"Essential thrombocythemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ET","Essential thrombocytosis"],"definition":"Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3318/","orphanet_url":"https://www.orpha.net/en/disease/detail/3318","names":{"fr":{"name":"Thrombocytémie essentielle","synonyms":["Thrombocytose essentielle"],"definition":"Néoplasie myéloproliférative (NMP) caractérisée par une augmentation soutenue du nombre de plaquettes (> 450 x 109/L) et une tendance aux thromboses et aux hémorragies."},"de":{"name":"Essentielle Thrombozythämie","synonyms":["ET","Thrombozytose, essentielle"],"definition":"Die Essentielle Thrombozythämie (ET) ist eine erworbene myeloproliferative Erkrankung (MPD) mit dauernd erhöhter Thrombozytenzahl und Thrombose- und Blutungsneigung."},"es":{"name":"Trombocitemia esencial","synonyms":["ET","Trombocitosis esencial"],"definition":"Es una neoplasia mieloproliferativa (NMP) caracterizada por una elevación sostenida del número de plaquetas (> 450 x 10E9/L) con tendencia a la trombosis y a la hemorragia."},"it":{"name":"Trombocitemia essenziale","synonyms":["ET","Trombocitosi essenziale"]},"nl":{"name":"Essentiële trombocytemie","synonyms":["ET","Essentiële trombocytose"],"definition":"Essentiële trombocytemie (ET) is een myeloproliferatief neoplasma (MPN; zie deze term) dat gekenmerkt wordt door een aanhoudende verhoging van het aantal bloedplaatjes (> 450 x 10E9/L) met een neiging tot trombose en bloeding."},"pt":{"name":"Trombocitemia essencial"},"pl":{"name":"Nadpłytkowość samoistna","synonyms":["ET","Trombocytoza samoistna"]},"cs":{"name":"Esenciální trombocytemie","synonyms":["ET"]},"uk":{"name":"Есенціальна тромбоцитемія","synonyms":["Есенціальний тромбоцитоз","ET"],"definition":"Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage."},"zh":{"name":"原发性血小板增多症","synonyms":["原发性血小板增多症"]},"tr":{"name":"Esansiyel trombositemi","synonyms":["ET","Esansiyel trombositoz"]}},"xrefs":[{"source":"OMIM","code":"187950","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601977","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614521","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3B63.1Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1735329275"},{"source":"MONDO","code":"0005029","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013920","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0040028","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6594","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015493","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":225968,"name":"OBSOLETE: Inherited predisposition to essential thrombocythemia","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]},{"orpha":248404,"name":"Rare thrombotic disorder due to an acquired platelet anomaly","classifications":[194]}],"children":[],"genes":[{"symbol":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"19262601[PMID]_23781511[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"9258660[PMID]_21653328[PMID]_20068225[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"CALR","name":"calreticulin","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24325256[PMID]_24325359[PMID]","hgnc":"1455","ensembl":"ENSG00000179218","omim":"109091","loci":["19p13.13"]},{"symbol":"JAK2","name":"Janus kinase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21653328[PMID]_21825979[PMID]","hgnc":"6192","ensembl":"ENSG00000096968","omim":"147796","loci":["9p24.1"]},{"symbol":"MPL","name":"MPL proto-oncogene, thrombopoietin receptor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"7217","ensembl":"ENSG00000117400","omim":"159530","loci":["1p34.2"]},{"symbol":"SH2B3","name":"SH2B adaptor protein 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21653328[PMID]_21825979[PMID]","hgnc":"29605","ensembl":"ENSG00000111252","omim":"605093","loci":["12q24.12"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":24.0,"area":"United States","status":"Validated","source":"18181200[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.55,"area":"Sweden","status":"Validated","source":"16673273[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Sweden","status":"Validated","source":"16673273[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-23","source":"30969531[PMID]_31774958[PMID]","terms":[{"hpo":"HP:0011875","label":"Abnormal platelet morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005513","label":"Increased megakaryocyte count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031388","label":"Megakaryocyte nucleus hyperlobulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032147","label":"Erythromelalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030243","label":"Hepatic vein thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011974","label":"Myelofibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}