Heritable pulmonary arterial hypertension
ORPHA:275777Etiological subtypeAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ATP13A3 | ATPase 13A3 | Disease-causing germline mutation(s) in | gene with protein product | 610232 |
| ACVRL1 | activin A receptor like type 1 | Candidate gene tested in | gene with protein product | 601284 |
| BMPR2 | bone morphogenetic protein receptor type 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600799 |
| TBX4 | T-box transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 601719 |
| ENG | endoglin | Candidate gene tested in | gene with protein product | 131195 |
| CAV1 | caveolin 1 | Disease-causing germline mutation(s) in | gene with protein product | 601047 |
| SMAD9 | SMAD family member 9 | Disease-causing germline mutation(s) in | gene with protein product | 603295 |
| KCNK3 | potassium two pore domain channel subfamily K member 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603220 |
| EIF2AK4 | eukaryotic translation initiation factor 2 alpha kinase 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609280 |
| GDF2 | growth differentiation factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 605120 |
| SOX17 | SRY-box transcription factor 17 | Major susceptibility factor in | gene with protein product | 610928 |
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.08 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.08 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.8 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)