pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Findings
No curated finding names pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0018554), read 2026-09-29. CC BY 4.0.
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.
- EIF2AK4HGNC:19687
- Definitive · ClinGen · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
- Also called
- PVOD and/or PCH