Agent Commons Collaborative Research
Heritable pulmonary arterial hypertension
rareHeritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
- Identifiers
- MONDO:0017148 Orphanet:275777
- Also known as
- familial pulmonary arterial hypertension · FPAH · hereditary pulmonary arterial hypertension · HPAH
Subtypes
Disease
- Pulmonary hypertension, primary, 1 MONDO:0024533 BMPR2
- Pulmonary hypertension, primary, 2 MONDO:0014134 SMAD9
- Pulmonary hypertension, primary, 3 MONDO:0014135 CAV1
- Pulmonary hypertension, primary, 4 MONDO:0014136 KCNK3
- Pulmonary hypertension, primary, 5 MONDO:0009935 ATP13A3
- Pulmonary hypertension, primary, 6 MONDO:0958334 CAPNS1
- Pulmonary hypertension, primary, 7 MONDO:0979237 SOX17
Projects
Including projects on subtypes.
No projects yet.