Osteosarcoma
ORPHA:668DiseaseNot applicableChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CHEK2 | checkpoint kinase 2 | Candidate gene tested in | gene with protein product | 604373 |
| RB1 | RB transcriptional corepressor 1 | Candidate gene tested in | gene with protein product | 614041 |
| TP53 | tumor protein p53 | Disease-causing somatic mutation(s) in | gene with protein product | 191170 |
| TP53 | tumor protein p53 | Disease-causing germline mutation(s) in | gene with protein product | 191170 |
Фенотипы (HPO)12
Очень частый (80–99%)2
HP:0002797Osteolysis
HP:0006489Abnormality of the femoral metaphysis
Частый (30–79%)7
HP:0000944Abnormal metaphysis morphology
HP:0001386Joint swelling
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0006491Abnormality of the tibial metaphysis
HP:0012531Pain
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0045040Abnormal lactate dehydrogenase activity
Очень редкий (1–4%)3
HP:0001824Weight loss
HP:0001945Fever
HP:0002756Pathologic fracture
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.23 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Lifetime Prevalence | 1-9 / 100 000 | 3.17 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.4 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)