Essential thrombocythemia
ORPHA:3318DiseaseMultigenic/multifactorial, Not applicableAll ages
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TET2 | tet methylcytosine dioxygenase 2 | Biomarker tested in | gene with protein product | 612839 |
| JAK2 | Janus kinase 2 | Disease-causing somatic mutation(s) in | gene with protein product | 147796 |
| MPL | MPL proto-oncogene, thrombopoietin receptor | Disease-causing somatic mutation(s) in | gene with protein product | 159530 |
| CALR | calreticulin | Disease-causing somatic mutation(s) in | gene with protein product | 109091 |
| SH2B3 | SH2B adaptor protein 3 | Disease-causing somatic mutation(s) in | gene with protein product | 605093 |
| TP53 | tumor protein p53 | Biomarker tested in | gene with protein product | 191170 |
Фенотипы (HPO)30
Очень частый (80–99%)15
HP:0001658Myocardial infarction
HP:0001872Abnormality of thrombocytes
HP:0001894Thrombocytosis
HP:0003010Prolonged bleeding time
HP:0003401Paresthesia
HP:0004420Arterial thrombosis
HP:0004936Venous thrombosis
HP:0005513Increased megakaryocyte count
HP:0005561Abnormality of bone marrow cell morphology
HP:0011875Abnormal platelet morphology
HP:0012378Fatigue
HP:0031388Megakaryocyte nucleus hyperlobulation
HP:0100576Amaurosis fugax
HP:0100659Abnormality of the cerebral vasculature
HP:0100749Chest pain
Частый (30–79%)6
HP:0001892Abnormal bleeding
HP:0002076Migraine
HP:0001744Splenomegaly
HP:0002315Headache
HP:0002321Vertigo
HP:0100785Insomnia
Периодический (5–29%)9
HP:0000505Visual impairment
HP:0000978Bruising susceptibility
HP:0001974Leukocytosis
HP:0002326Transient ischemic attack
HP:0002488Acute leukemia
HP:0002863Myelodysplasia
HP:0011974Myelofibrosis
HP:0030243Hepatic vein thrombosis
HP:0032147Erythromelalgia
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 24 | United States | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.55 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | 30 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Annual incidence | 1-9 / 1 000 000 | 0.48 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)