pulmonary venoocclusive disease 2
Findings
No curated finding names pulmonary venoocclusive disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.
Definition from the Mondo Disease Ontology (MONDO:0009329), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
27 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.
- DyspneaHPOHP:0002094
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Centrilobular ground-glass opacification on pulmonary HRCTHPOHP:0025180
- 15 of 16 reported patients
- Frequent (30% to 79% of cases)
- Decreased DLCOHPOHP:0045051
- 17 of 19 reported patients
- Very frequent (80% to 99% of cases)
- Capillary malformationHPOHP:0025104
- Very frequent (80% to 99% of cases)
- Ground-glass opacificationHPOHP:0025179
- Very frequent (80% to 99% of cases)
- Interlobular septal thickeningHPOHP:0030879
Show the remaining 15
- Diffuse alveolar hemorrhageHPOHP:0025420
- Frequent (30% to 79% of cases)
- Elevated pulmonary artery pressureHPOHP:0004890
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- HemoptysisHPOHP:0002105
- Frequent (30% to 79% of cases)
- HemothoraxHPOHP:0012151
- Frequent (30% to 79% of cases)
- HypoxemiaHPOHP:0012418
- Frequent (30% to 79% 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.
- EIF2AK4HGNC:19687
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of