pulmonary arterial hypertension
Findings
No curated finding names pulmonary arterial hypertension yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).
Definition from the Mondo Disease Ontology (MONDO:0015924), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Pulmonary arterial hypertensionHPOHP:0002092
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system physiologyHPOHP:0011025
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
- Elevated jugular venous pressureHPOHP:0030848
- Occasional (5% to 29% of cases)
- FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
- Heart murmur
Show the remaining 1
- Pedal edemaHPOHP:0010741
- Very rare (1% to 4% of cases)
Genes
25 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP13A3HGNC:24113
- Definitive · ClinGen · Semidominant · 2021
- BMPR2HGNC:1078
- Definitive · ClinGen · Autosomal dominant · 2020
- CAV1HGNC:1527
- Definitive · ClinGen · Autosomal dominant · 2025
- GDF2HGNC:4217
- Definitive · ClinGen · Autosomal dominant · 2022
- KCNK3HGNC:6278
- Definitive · ClinGen · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: pulmonary arterial hypertension
- Also called
- PAH