pulmonary venoocclusive disease 1
MONDO:0020713Mondo
Findings
No curated finding names pulmonary venoocclusive disease 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Abnormally loud pulmonic component of the second heart soundHPOHP:0031687
- 1 of 1 reported patient
- Centrilobular ground-glass opacification on pulmonary HRCTHPOHP:0025180
- 1 of 1 reported patient
- Interlobular septal thickeningHPOHP:0030879
- 1 of 1 reported patient
- Elevated jugular venous pressureHPOHP:0030848
- Pulmonary arterial hypertensionHPOHP:0002092
- Pulmonary venous occlusionHPOHP:0006518
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
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: pulmonary venoocclusive disease 1
- Also called
- PVOD1