Primary myelofibrosis
ORPHA:824DiseaseNot applicableAdult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| 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 |
| TET2 | tet methylcytosine dioxygenase 2 | Disease-causing somatic mutation(s) in | gene with protein product | 612839 |
| CALR | calreticulin | Disease-causing somatic mutation(s) in | gene with protein product | 109091 |
Фенотипы (HPO)36
Очень частый (80–99%)1
HP:0005561Abnormality of bone marrow cell morphology
Частый (30–79%)10
HP:0000980Pallor
HP:0001433Hepatosplenomegaly
HP:0001744Splenomegaly
HP:0001871Abnormality of blood and blood-forming tissues
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002240Hepatomegaly
HP:0012143Abnormal megakaryocyte morphology
HP:0012378Fatigue
HP:0025142Constitutional symptom
Периодический (5–29%)20
HP:0000967Petechiae
HP:0000979Purpura
HP:0001409Portal hypertension
HP:0001876Pancytopenia
HP:0001892Abnormal bleeding
HP:0001894Thrombocytosis
HP:0001945Fever
HP:0001974Leukocytosis
HP:0001977Abnormal thrombosis
HP:0001978Extramedullary hematopoiesis
HP:0002039Anorexia
HP:0002716Lymphadenopathy
HP:0003388Easy fatigability
HP:0004420Arterial thrombosis
HP:0004447Poikilocytosis
HP:0004936Venous thrombosis
HP:0011134Low-grade fever
HP:0030157Flank pain
HP:0031020Bone marrow hypercellularity
HP:0031364Ecchymosis
Очень редкий (1–4%)4
HP:0001028Hemangioma
HP:0004326Cachexia
HP:0004377Hematological neoplasm
HP:0025435Increased circulating lactate dehydrogenase concentration
Исключён (0%)1
HP:0030057Autoimmune antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 3 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)