Loading the page.

heritable pulmonary arterial hypertension

MONDO:0017148Mondo

Findings

No curated finding names heritable pulmonary arterial hypertension yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Heritable 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.

Definition from the Mondo Disease Ontology (MONDO:0017148), read 2026-09-29. CC BY 4.0.

Genes

6 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.

BMPR2HGNC:1078
- Supportive · Orphanet · Autosomal dominant · 2021
CAV1HGNC:1527
- Supportive · Orphanet · Autosomal dominant · 2021
EIF2AK4HGNC:19687
- Supportive · Orphanet · Autosomal dominant · 2021
KCNK3HGNC:6278
- Supportive · Orphanet · Autosomal dominant · 2021
SMAD9HGNC:6774
- Supportive · Orphanet · Autosomal dominant · 2021
TBX4HGNC:11603
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: hereditary disease
pulmonary arterial hypertension
Narrower terms (7): pulmonary hypertension, primary, 1
pulmonary hypertension, primary, 2
pulmonary hypertension, primary, 3
pulmonary hypertension, primary, 4
pulmonary hypertension, primary, 5
pulmonary hypertension, primary, 6
pulmonary hypertension, primary, 7

Other names

4 names

Resolves to: heritable pulmonary arterial hypertension

Also called: familial pulmonary arterial hypertensionFPAHhereditary pulmonary arterial hypertensionHPAH