pulmonary hypertension, primary, 1
Findings
No curated finding names pulmonary hypertension, primary, 1 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 BMPR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0024533), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- CoughHPOHP:0012735
- 1 of 1 reported patient
- Pulmonary arterial hypertensionHPOHP:0002092
- 14 of 14 reported patients
- Increased pulmonary vascular resistanceHPOHP:0005317
- Very frequent (80% to 99% of cases)
- Right ventricular failureHPOHP:0001708
- Very frequent (80% to 99% of cases)
- Right ventricular hypertrophyHPOHP:0001667
- Very frequent (80% to 99% of cases)
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.
- BMPR2HGNC:1078
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: pulmonary hypertension, primary, 1
- Also called
- BMPR2 primary pulmonary hypertensionprimary pulmonary hypertension caused by mutation in BMPR2pulmonary hypertension, familial primary, 1, with or without HHTpulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated