Systemic mastocytosis with associated hematologic neoplasm
ORPHA:98849DiseaseNot applicableAdult, Elderly
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Disease-causing somatic mutation(s) in | gene with protein product | 164920 |
| TET2 | tet methylcytosine dioxygenase 2 | Disease-causing somatic mutation(s) in | gene with protein product | 612839 |
| SRSF2 | serine and arginine rich splicing factor 2 | Disease-causing somatic mutation(s) in | gene with protein product | 600813 |
| ASXL1 | ASXL transcriptional regulator 1 | Disease-causing somatic mutation(s) in | gene with protein product | 612990 |
Фенотипы (HPO)45
Очень частый (80–99%)4
HP:0004377Hematological neoplasm
HP:0012324Myeloid leukemia
HP:0031901Increased serum mast cell beta-tryptase concentration
HP:0100494Abnormal mast cell morphology
Частый (30–79%)13
HP:0000980Pallor
HP:0000989Pruritus
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001880Eosinophilia
HP:0001895Normochromic anemia
HP:0001897Normocytic anemia
HP:0001945Fever
HP:0001974Leukocytosis
HP:0002315Headache
HP:0005547Myeloproliferative disorder
HP:0012378Fatigue
HP:0031020Bone marrow hypercellularity
Периодический (5–29%)25
HP:0000939Osteoporosis
HP:0001025Urticaria
HP:0001279Syncope
HP:0001649Tachycardia
HP:0001744Splenomegaly
HP:0002014Diarrhea
HP:0002018Nausea
HP:0002027Abdominal pain
HP:0002086Abnormality of the respiratory system
HP:0002240Hepatomegaly
HP:0002615Hypotension
HP:0002653Bone pain
HP:0002659Increased susceptibility to fractures
HP:0002665Lymphoma
HP:0002716Lymphadenopathy
HP:0002829Arthralgia
HP:0002863Myelodysplasia
HP:0003326Myalgia
HP:0004398Peptic ulcer
HP:0004808Acute myeloid leukemia
HP:0011897Neutrophilia
HP:0012138Granulocytic hyperplasia
HP:0012325Chronic myelomonocytic leukemia
HP:0031284Flushing
HP:0031807Increased basophil count
Очень редкий (1–4%)3
HP:0005550Chronic lymphatic leukemia
HP:0006775Multiple myeloma
HP:0011034Amyloidosis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)