Gastrointestinal stromal tumor
ORPHA:44890DiseaseAutosomal dominant, Not applicableAdolescent, Adult, Childhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PDGFRA | platelet derived growth factor receptor alpha | Disease-causing germline mutation(s) in | gene with protein product | 173490 |
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600857 |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Candidate gene tested in | gene with protein product | 185470 |
| SDHC | succinate dehydrogenase complex subunit C | Candidate gene tested in | gene with protein product | 602413 |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Disease-causing somatic mutation(s) in | gene with protein product | 164920 |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 164920 |
| PDGFRA | platelet derived growth factor receptor alpha | Disease-causing somatic mutation(s) in | gene with protein product | 173490 |
Фенотипы (HPO)18
Очень частый (80–99%)3
HP:0006753Neoplasm of the stomach
HP:0100242Sarcoma
HP:0100723Gastrointestinal stroma tumor
Частый (30–79%)6
HP:0002015Dysphagia
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0002239Gastrointestinal hemorrhage
HP:0005214Intestinal obstruction
HP:0012378Fatigue
Периодический (5–29%)9
HP:0000988Skin rash
HP:0001392Abnormality of the liver
HP:0001903Anemia
HP:0007378Neoplasm of the gastrointestinal tract
HP:0007400Irregular hyperpigmentation
HP:0100273Neoplasm of the colon
HP:0100743Neoplasm of the rectum
HP:0100751Esophageal neoplasm
HP:0100833Neoplasm of the small intestine
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.9 | Korea, Republic of | Value and class |
| Point prevalence | 1-5 / 10 000 | 14.5 | Hong Kong | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.82 | Hong Kong | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.5 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 12.9 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)