Autosomal dominant secondary polycythemia
ORPHA:247511DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| EPO | erythropoietin | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 133170 |
| EGLN1 | egl-9 family hypoxia inducible factor 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606425 |
| EPAS1 | endothelial PAS domain protein 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 603349 |
| HBA1 | hemoglobin subunit alpha 1 | Disease-causing germline mutation(s) in | gene with protein product | 141800 |
| HBA2 | hemoglobin subunit alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 141850 |
| HBB | hemoglobin subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 141900 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)