pulmonary hypertension, primary, 3
Findings
No curated finding names pulmonary hypertension, primary, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014135), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 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.
- Elevated pulmonary artery pressureHPOHP:0004890
- Increased pulmonary vascular resistanceHPOHP:0005317
- Pulmonary arterial hypertensionHPOHP:0002092
Genes
1 gene
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.
- CAV1HGNC:1527
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · Ambry Genetics · Autosomal dominant · 2016
Where it sits
Other names
3 names
Resolves to: pulmonary hypertension, primary, 3
- Also called
- CAV1 primary pulmonary hypertensionprimary pulmonary hypertension caused by mutation in CAV1pulmonary hypertension, primary, type 3