Pulmonary Venoocclusive Disease (PVOD)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Venoocclusive Disease

MalaCards integrated aliases for Pulmonary Venoocclusive Disease:

Name: Pulmonary Venoocclusive Disease 12 52 25 29 15
Pulmonary Veno-Occlusive Disease 12 74 25 43 71
Obstructive Disease of the Pulmonary Veins 52 25
Pvod 52 25
Pulmonary Venoocclusive Disease 1, Autosomal Dominant 71
Venous Form of Primary Pulmonary Hypertension 25
Isolated Pulmonary Venous Sclerosis 25


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Disease Ontology 12 DOID:5453
MeSH 43 D011668
NCIt 49 C85039
SNOMED-CT 67 89420002
UMLS 71 C0034091 C3887658

Summaries for Pulmonary Venoocclusive Disease

Genetics Home Reference : 25 Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension. The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion are the most common symptoms of this condition. Other common features include dizziness, a lack of energy (lethargy), difficulty breathing when lying down, and a cough that does not go away. As the condition worsens, affected individuals can develop a bluish tint to the skin (cyanosis), chest pains, fainting spells, and an accumulation of fluid in the lungs (pulmonary edema). Certain features commonly seen in people with PVOD can be identified using a test called a CT scan. One of these features, which is seen in the lungs of affected individuals, is an abnormality described as centrilobular ground-glass opacities. Affected individuals also have abnormal thickening of certain tissues in the lungs, which is described as septal lines. In addition, lymph nodes in the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD. PVOD can begin at any age, and the blood flow problems worsen over time. Because of the increased blood pressure in the pulmonary arteries, the heart must work harder than normal to pump blood to the lungs, which can eventually lead to fatal heart failure. Most people with this severe disorder do not live more than 2 years after diagnosis.

MalaCards based summary : Pulmonary Venoocclusive Disease, also known as pulmonary veno-occlusive disease, is related to pulmonary venoocclusive disease 1, autosomal dominant and telangiectasis, and has symptoms including hemoptysis An important gene associated with Pulmonary Venoocclusive Disease is EIF2AK4 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4), and among its related pathways/superpathways are Cardiomyocyte Differentiation through BMP Receptors and ALK1 signaling events. The drugs Bevacizumab and Orange have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and lymph node, and related phenotypes are cardiovascular system and nervous system

Wikipedia : 74 Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension caused by progressive... more...

Related Diseases for Pulmonary Venoocclusive Disease

Diseases in the Pulmonary Venoocclusive Disease family:

Pulmonary Venoocclusive Disease 2, Autosomal Recessive Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Diseases related to Pulmonary Venoocclusive Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1, autosomal dominant 34.7 EIF2AK4 BMPR2
2 telangiectasis 30.3 GDF2 BMPR2 ACVRL1
3 pulmonary hypertension, primary, 1 30.0 NPPB KCNK3 BMPR2 ACVRL1
4 limited scleroderma 29.3 PDZK1IP1 PDE5A CAV1
5 mitral valve stenosis 29.3 WBP2NL PDZK1IP1 NPPB
6 heritable pulmonary arterial hypertension 28.6 TBX4 SMAD9 KCNK3 GDF2 EIF2AK4 CAV1
7 tricuspid valve insufficiency 28.1 WBP2NL PDZK1IP1 PDE5A PAH NPPB BMPR2
8 pulmonary hypertension 27.5 TBX4 SMAD9 PDE5A NPPB KCNK3 KCNA5
9 pulmonary venoocclusive disease 2, autosomal recessive 12.9
10 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 12.8
11 hepatic veno-occlusive disease 10.5
12 sarcoidosis 1 10.4
13 pulmonary edema 10.3
14 neuroblastoma 10.3
15 raynaud phenomenon 10.3
16 atrial standstill 1 10.2
17 lymphoma 10.2
18 thrombosis 10.2
19 hypertrophic cardiomyopathy 10.2
20 hemosiderosis 10.2
21 myeloproliferative neoplasm 10.2
22 mixed connective tissue disease 10.2
23 pulmonary fibrosis 10.2
24 hemolytic anemia 10.2
25 myeloid leukemia 10.2
26 idiopathic/heritable pulmonary arterial hypertension 10.2
27 pulmonary embolism 10.2
28 pfeiffer syndrome 10.1
29 total anomalous pulmonary venous return 1 10.1
30 burkitt lymphoma 10.1
31 felty syndrome 10.1
32 pulmonary hemosiderosis 10.1
33 down syndrome 10.1
34 suppressor of tumorigenicity 3 10.1
35 lung cancer 10.1
36 immune deficiency disease 10.1
37 myeloma, multiple 10.1
38 polycythemia vera 10.1
39 sudden infant death syndrome 10.1
40 leukemia, acute myeloid 10.1
41 cervical cancer 10.1
42 lymphangioleiomyomatosis 10.1
43 patent ductus arteriosus 1 10.1
44 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
45 cyanosis, transient neonatal 10.1
46 aspergillosis 10.1
47 exanthem 10.1
48 crest syndrome 10.1
49 castleman disease 10.1
50 parotitis 10.1

Graphical network of the top 20 diseases related to Pulmonary Venoocclusive Disease:

Diseases related to Pulmonary Venoocclusive Disease

Symptoms & Phenotypes for Pulmonary Venoocclusive Disease

UMLS symptoms related to Pulmonary Venoocclusive Disease:


MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 ACVRL1 BMPR2 CAV1 GDF2 KCNA5 KCNK3
2 nervous system MP:0003631 9.28 ACVRL1 BMPR2 CAV1 EIF2AK4 KCNA5 KCNK3

Drugs & Therapeutics for Pulmonary Venoocclusive Disease

Drugs for Pulmonary Venoocclusive Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
2 Orange Approved Phase 1, Phase 2
Defibrotide Approved, Investigational Phase 2 83712-60-1
4 Protein Kinase Inhibitors Phase 1, Phase 2
5 Anti-Bacterial Agents Phase 1, Phase 2
6 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
7 Angiogenesis Inhibitors Phase 1, Phase 2
8 Antineoplastic Agents, Immunological Phase 1, Phase 2
9 Fibrinolytic Agents Phase 2
10 Platelet Aggregation Inhibitors Phase 2
Nitric Oxide Approved 10102-43-9 145068
Carbon monoxide Approved, Investigational 630-08-0 281
13 glutamine

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Adjunct Targeted Biologic Inhibition in Children With Multivessel Intraluminal Pulmonary Vein Stenosis Completed NCT00891527 Phase 1, Phase 2 Bevacizumab (Avastin) and Imatinib Mesylate (Gleevec)
2 Use of Defibrotide to Reduce Progression of Acute Respiratory Failure Rate in Patients With COVID-19 Pneumonia Not yet recruiting NCT04335201 Phase 2 Defibrotide Injection
3 A Randomized Control Studies on the Effects of Glutamine on the Clinical Outcome of Bone Marrow Transplant Recipients With Special Reference to Veno-occlusive Disease and Mucositis. Unknown status NCT00563498 Glutamine
4 Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers Recruiting NCT03902353

Search NIH Clinical Center for Pulmonary Venoocclusive Disease

Cochrane evidence based reviews: pulmonary veno-occlusive disease

Genetic Tests for Pulmonary Venoocclusive Disease

Genetic tests related to Pulmonary Venoocclusive Disease:

# Genetic test Affiliating Genes
1 Pulmonary Venoocclusive Disease 29

Anatomical Context for Pulmonary Venoocclusive Disease

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease:

Lung, Heart, Lymph Node, Testes, Skin, Bone, Bone Marrow

Publications for Pulmonary Venoocclusive Disease

Articles related to Pulmonary Venoocclusive Disease:

(show top 50) (show all 426)
# Title Authors PMID Year
Molecular Profiling of Vascular Remodeling in Chronic Pulmonary Disease. 61
32275906 2020
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. 61
32547734 2020
Pulmonary capillary haemangiomatosis: a distinct entity? 61
32461209 2020
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. 61
32471403 2020
Pulmonary veno-occlusive disease: a probably underdiagnosed cause of pulmonary hypertension in systemic sclerosis. 61
31965379 2020
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
31501875 2020
Case 276: Pulmonary Veno-Occlusive Disease and Pulmonary Capillary Hemangiomatosis Disease. 61
32176598 2020
Eating Cheerios on ECMO: The Use of VA ECMO as a Bridge to Lung Transplant in an Infant. 61
32465083 2020
Venoocclusive Disease With Both Hepatic and Pulmonary Involvement. 61
32252933 2020
Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. 61
32209028 2020
Gas Exchange and Ventilatory Efficiency During Exercise in Pulmonary Vascular Diseases. 61
32111418 2020
Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension. 61
31202500 2020
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. 61
32348326 2020
Pulmonary vein occlusion and veno-occlusive disease in a bilateral lung transplant patient: A case report. 61
32257789 2020
Targeted therapy in pulmonary veno-occlusive disease: time for a rethink? 61
31856792 2019
An Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study. 61
31636247 2019
Features of radiological and physiological findings in pulmonary capillary hemangiomatosis: an updated pooled analysis of confirmed diagnostic cases. 61
31908771 2019
Computed tomographic and clinical features of pulmonary veno-occlusive disease: raising the radiologist's awareness. 61
31178067 2019
Racial and Ethnic Differences in Pediatric Pulmonary Hypertension: An Analysis of the Pediatric Pulmonary Hypertension Network Registry. 61
31176455 2019
A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica. 61
31337372 2019
[Advances in the study of pulmonary veno-occlusive disease]. 61
31365972 2019
A Case of Pulmonary Veno-Occlusive Disease Following Hepatic Veno-Occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma. 61
31335821 2019
Understanding the Similarities and Differences between Hepatic and Pulmonary Veno-Occlusive Disease. 61
30926335 2019
Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease. 61
30652195 2019
Pulmonary Veno-occlusive Disease: A Surgical Lung Biopsy-proven and Autopsied Case Radiologically Mimicking Hypersensitivity Pneumonitis at the Time of a Transbronchial Lung Biopsy. 61
30568112 2019
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. 61
31099303 2019
Comprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30697960 2019
Pulmonary capillary hemangiomatosis diagnosed by pathology of explanted lungs: a unique etiology serves as a key of clinical diagnosis. 61
29804176 2019
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. 61
30578383 2019
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. 61
30473253 2019
Tumoral pulmonary hypertension. 61
30728162 2019
Beneficial Effects of Imatinib in a Patient with Suspected Pulmonary Veno-Occlusive Disease. 61
30700638 2019
Pulmonary veno-occlusive disease is highly prevalent in scleroderma patients undergoing lung transplantation. 61
30775371 2019
Extracorporeal Membrane Oxygenation Support During Pregnancy in Pulmonary Veno-occlusive Disease. 61
29428338 2019
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30499214 2019
Haemodynamic definitions and updated clinical classification of pulmonary hypertension. 61
30545968 2019
Pulmonary Veno-Occlusive Disease: A Rare Cause of Pulmonary Hypertension. 61
31010327 2019
The 6th World Symposium on Pulmonary Hypertension: what's old is new. 61
31249672 2019
Pathology and pathobiology of pulmonary hypertension: state of the art and research perspectives. 61
30545970 2019
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. 61
30679663 2019
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. 61
30518401 2018
Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation. 61
30285736 2018
Respiratory failure in the hematopoietic stem cell transplant recipient. 61
30370228 2018
Drug-associated pulmonary arterial hypertension. 61
29508628 2018
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. 61
29548663 2018
Pulmonary tumor thrombotic microangiopathy and pulmonary veno-occlusive disease in a woman with cervical cancer treated with cediranib and durvalumab. 61
29996818 2018
Pulmonary veno-occlusive disease in a pediatric hematopoietic stem cell transplant patient: a cautionary tale. 61
28958195 2018
Lung Transplantation in Pulmonary Hypertension: A Multidisciplinary Unit's Management Experience. 61
29880377 2018
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease. 61
29108819 2018
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. 61
29743074 2018

Variations for Pulmonary Venoocclusive Disease

Expression for Pulmonary Venoocclusive Disease

Search GEO for disease gene expression data for Pulmonary Venoocclusive Disease.

Pathways for Pulmonary Venoocclusive Disease

Pathways related to Pulmonary Venoocclusive Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.47 SMAD9 NPPB BMPR2
Show member pathways
3 10.2 SMAD9 BMPR2

GO Terms for Pulmonary Venoocclusive Disease

Cellular components related to Pulmonary Venoocclusive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.43 WBP2NL KCNK3 KCNA5 GDF2 CAV1 ATP13A3
2 caveola GO:0005901 8.8 KCNA5 CAV1 BMPR2

Biological processes related to Pulmonary Venoocclusive Disease according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.84 TBX4 GDF2 CAV1 ACVRL1
2 response to hypoxia GO:0001666 9.79 KCNA5 CAV1 ACVRL1
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.74 SMAD9 BMPR2 ACVRL1
4 positive regulation of endothelial cell proliferation GO:0001938 9.69 GDF2 BMPR2 ACVRL1
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.63 GDF2 BMPR2 ACVRL1
6 blood vessel remodeling GO:0001974 9.62 BMPR2 ACVRL1
7 blood vessel morphogenesis GO:0048514 9.62 GDF2 ACVRL1
8 negative regulation of cell growth GO:0030308 9.62 NPPB GDF2 BMPR2 ACVRL1
9 negative regulation of endothelial cell migration GO:0010596 9.61 GDF2 ACVRL1
10 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.6 BMPR2 ACVRL1
11 negative regulation of cytosolic calcium ion concentration GO:0051481 9.59 KCNK3 KCNA5
12 positive regulation of endothelial cell differentiation GO:0045603 9.58 GDF2 ACVRL1
13 positive regulation of cartilage development GO:0061036 9.58 GDF2 BMPR2
14 negative regulation of endothelial cell proliferation GO:0001937 9.58 GDF2 CAV1 ACVRL1
15 negative regulation of systemic arterial blood pressure GO:0003085 9.56 NPPB BMPR2
16 BMP signaling pathway GO:0030509 9.56 SMAD9 GDF2 BMPR2 ACVRL1
17 lymphangiogenesis GO:0001946 9.55 BMPR2 ACVRL1
18 positive regulation of BMP signaling pathway GO:0030513 9.54 GDF2 BMPR2 ACVRL1
19 artery development GO:0060840 9.52 BMPR2 ACVRL1
20 retina vasculature development in camera-type eye GO:0061298 9.49 BMPR2 ACVRL1
21 lymphatic endothelial cell differentiation GO:0060836 9.48 BMPR2 ACVRL1
22 venous blood vessel development GO:0060841 9.43 BMPR2 ACVRL1
23 activin receptor signaling pathway GO:0032924 9.33 GDF2 BMPR2 ACVRL1
24 negative regulation of DNA biosynthetic process GO:2000279 9.13 GDF2 BMPR2 ACVRL1
25 cellular response to BMP stimulus GO:0071773 8.92 SMAD9 GDF2 BMPR2 ACVRL1

Molecular functions related to Pulmonary Venoocclusive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR2 ACVRL1
2 transforming growth factor beta-activated receptor activity GO:0005024 8.96 BMPR2 ACVRL1
3 BMP receptor activity GO:0098821 8.62 BMPR2 ACVRL1

Sources for Pulmonary Venoocclusive Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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