Familial thrombocytosis
ORPHA:71493DiseaseAutosomal dominant, X-linked recessiveChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| THPO | thrombopoietin | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600044 |
| JAK2 | Janus kinase 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 147796 |
| MPL | MPL proto-oncogene, thrombopoietin receptor | Disease-causing germline mutation(s) in | gene with protein product | 159530 |
Фенотипы (HPO)24
Очень частый (80–99%)4
HP:0001892Abnormal bleeding
HP:0001894Thrombocytosis
HP:0004420Arterial thrombosis
HP:0004936Venous thrombosis
Частый (30–79%)9
HP:0000975Hyperhidrosis
HP:0000989Pruritus
HP:0001744Splenomegaly
HP:0002315Headache
HP:0002326Transient ischemic attack
HP:0002637Cerebral ischemia
HP:0003401Paresthesia
HP:0004950Peripheral arterial stenosis
HP:0100749Chest pain
Периодический (5–29%)11
HP:0001123Visual field defect
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001279Syncope
HP:0001824Weight loss
HP:0002092Pulmonary arterial hypertension
HP:0002321Vertigo
HP:0002863Myelodysplasia
HP:0004808Acute myeloid leukemia
HP:0005268Spontaneous abortion
HP:0005506Chronic myelogenous leukemia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)