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pulmonary venoocclusive disease 1 (PVOD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary venoocclusive disease 1

MONDO:0020713

Also known as:PVOD1pulmonary venoocclusive disease 1, autosomal dominant

Overview

GeneticsAutosomal dominant · BMPR2 (chr 2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Centrilobular ground-glass opacification on pulmonary HRCT, Abnormally loud pulmonic component of the second heart sound, and Interlobular septal thickening. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, High blood pressure in lung arteries (pulmonary arterial hypertension)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BMPR2 encodes bone morphogenetic protein receptor type 2 (1,038 aa). On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Highest expression in Lung (45.1 TPM) and Artery Aorta (35.3 TPM).

Pulmonary venoocclusive disease 1 is associated with mutations in the BMPR2 gene on chromosome 2.

The BMPR2 protein participates in Signaling by BMP pathway.

BMPR2 is classified as a druggable target (Cell Surface, Druggable Genome, Kinase, and Serine Threonine Kinase categories) with score 8.7.

Diagnosis

Genetic testing for BMPR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary venoocclusive disease 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pulmonary venoocclusive disease 1.

47 publications have been identified in PubMed for pulmonary venoocclusive disease 1. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	12	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:265450

Questions for Your Care Team

→Should I pursue genetic testing for BMPR2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

pulmonary venoocclusive disease 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension.

Impact of Pulmonary Veno-Occlusive Disease on Posttransplant Survival in Pulmonary Hypertension.

pulmonary venoocclusive disease 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension.

Impact of Pulmonary Veno-Occlusive Disease on Posttransplant Survival in Pulmonary Hypertension.