Aggressive systemic mastocytosis
ORPHA:98850DiseaseNot applicableAdult, Antenatal, Elderly, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| 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 |
| RUNX1 | RUNX family transcription factor 1 | Disease-causing somatic mutation(s) in | gene with protein product | 151385 |
| CBL | Cbl proto-oncogene | Disease-causing somatic mutation(s) in | gene with protein product | 165360 |
Фенотипы (HPO)39
Очень частый (80–99%)1
HP:0100494Abnormal mast cell morphology
Частый (30–79%)21
HP:0000939Osteoporosis
HP:0000989Pruritus
HP:0001433Hepatosplenomegaly
HP:0001824Weight loss
HP:0001974Leukocytosis
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002039Anorexia
HP:0002615Hypotension
HP:0002653Bone pain
HP:0002716Lymphadenopathy
HP:0002829Arthralgia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0012378Fatigue
HP:0025142Constitutional symptom
HP:0031284Flushing
HP:0031408Increased proportion of CD25+ mast cells
HP:0031901Increased serum mast cell beta-tryptase concentration
HP:0032155Abdominal cramps
HP:0100845Anaphylactic shock
Периодический (5–29%)17
HP:0001025Urticaria
HP:0001409Portal hypertension
HP:0001410Decreased liver function
HP:0001541Ascites
HP:0001873Thrombocytopenia
HP:0001875Decreased total neutrophil count
HP:0001876Pancytopenia
HP:0001903Anemia
HP:0001909Leukemia
HP:0001971Hypersplenism
HP:0002239Gastrointestinal hemorrhage
HP:0002756Pathologic fracture
HP:0002797Osteolysis
HP:0004377Hematological neoplasm
HP:0008066Abnormal blistering of the skin
HP:0011121Abnormal skin morphology
HP:0040186Maculopapular exanthema
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)