{"orpha":71493,"name":"Familial thrombocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial thrombocythemia","Hereditary thrombocythemia"],"definition":"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71493/","orphanet_url":"https://www.orpha.net/en/disease/detail/71493","names":{"fr":{"name":"Thrombocytose familiale","synonyms":["Thrombocytémie familiale","Thrombocytémie héréditaire"],"definition":"La thrombocytose familiale est un type de thrombocytose, une augmentation durable de la numération plaquettaire qui affecte la lignée plaquettaire/mégacaryocytaire et peut provoquer une tendance aux thromboses et aux hémorragies sans causer de myéloprolifération."},"de":{"name":"Thrombozytose, familiäre","synonyms":["Thrombozythämie, hereditäre"]},"es":{"name":"Trombocitosis familiar","synonyms":["Trombocitopenia familiar","Trombocitopenia hereditaria"],"definition":"La trombocitosis familiar es un tipo de trombocitosis, un aumento mantenido del número de plaquetas, que afecta a la línea de progenitores de plaquetas/megacariocitos y puede producir tendencia a trombosis y hemorragia, pero no causa proliferación maligna."},"it":{"name":"Trombocitosi familiare","synonyms":["Trombocitemia ereditaria","Trombocitemia familiare"]},"nl":{"name":"Familiale trombocytose","synonyms":["Erfelijke trombocytemie","Familiale trombocytemie"],"definition":"Een type van trombocytose, een aanhoudende verhoging van aantal trombocyten, die de cellijn van trombocyten/megakaryocyten aantast en kan leiden tot vatbaarheid voor trombose en hemorragie, maar niet tot myeloproliferatie."},"pt":{"name":"Trombocitose familiar","synonyms":["Trombocitemia hereditária"]},"pl":{"name":"Nadpłytkowość rodzinna","synonyms":["Dziedziczna trombocytemia","Trombocytopenia rodzinna"]},"cs":{"name":"Familiární trombocytóza","synonyms":["Familiární trombocytémie","Hereditární trombocytémie"]},"uk":{"name":"Сімейний тромбоцитоз","synonyms":["Сімейна тромбоцитемія","Спадкова тромбоцитемія"],"definition":"Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation."},"zh":{"name":"家族性血小板增多症","synonyms":["遗传性血小板增多症"]},"tr":{"name":"Ailesel trombositoz","synonyms":["Ailesel trombositemi","Kalıtsal trombositemi"]}},"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":"OMIM","code":"620478","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B63.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1695088249"},{"source":"MONDO","code":"0019111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":248401,"name":"Rare thrombotic disorder due to a constitutional platelet anomaly","classifications":[156,194]}],"children":[],"genes":[{"symbol":"JAK2","name":"Janus kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22397670[PMID]","hgnc":"6192","ensembl":"ENSG00000096968","omim":"147796","loci":["9p24.1"]},{"symbol":"THPO","name":"thrombopoietin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":null,"hgnc":"11795","ensembl":"ENSG00000090534","omim":"600044","loci":["3q27.1"]},{"symbol":"MPL","name":"MPL proto-oncogene, thrombopoietin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7217","ensembl":"ENSG00000117400","omim":"159530","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"23736217[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11155408[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","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:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004950","label":"Peripheral arterial stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005506","label":"Chronic myelogenous leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}