pulmonary hypertension, primary, 5
MONDO:0009935Mondo
Findings
No curated finding names pulmonary hypertension, primary, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal 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.
- Pulmonary arterial hypertensionHPOHP:0002092
- 5 of 5 reported patients
- Right ventricular failureHPOHP:0001708
- 3 of 5 reported patients
- Right ventricular hypertrophyHPOHP:0001667
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.
- ATP13A3HGNC:24113
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: pulmonary hypertension, primary, 5
- Also called
- PPH5pulmonary hypertension, primary, 5, autosomal recessive