PVOD
MCID: PLM025
MIFTS: 44

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 20 43 29 15
Pulmonary Veno-Occlusive Disease 12 73 43 54 44 70
Obstructive Disease of the Pulmonary Veins 20 43
Pvod 20 43
Pulmonary Venoocclusive Disease 1, Autosomal Dominant 70
Venous Form of Primary Pulmonary Hypertension 43
Isolated Pulmonary Venous Sclerosis 43

Classifications:



External Ids:

Disease Ontology 12 DOID:5453
MeSH 44 D011668
NCIt 50 C85039
SNOMED-CT 67 89420002
UMLS 70 C0034091 C3887658

Summaries for Pulmonary Venoocclusive Disease

MedlinePlus Genetics : 43 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 pulmonary hypertension, primary, 1, 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 Fluid shear stress and atherosclerosis and TGF-beta Signaling Pathways. The drugs Orange and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include heart, bone marrow and lung, and related phenotypes are cardiovascular system and nervous system

Wikipedia : 73 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 124)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1, autosomal dominant 33.2 EIF2AK4 BMPR2
2 pulmonary hypertension, primary, 1 29.9 TBX4 KCNK3 ENG EIF2AK4 BMPR2 ACVRL1
3 telangiectasis 29.8 GDF2 ENG BMPR2 ACVRL1
4 limited scleroderma 29.8 PDE5A EDN1 CAV1
5 tricuspid valve insufficiency 29.5 PDE5A NPPB EDN1 BMPR2
6 congestive heart failure 29.3 PDE5A NPPB EDN1
7 idiopathic/heritable pulmonary arterial hypertension 29.3 SMAD9 KCNK3 ENG CAV1 BMPR2 ACVRL1
8 vascular disease 28.7 NPPB HTR2A ENG EDN1 BMPR2 ACVRL1
9 heritable pulmonary arterial hypertension 28.5 TBX4 SMAD9 KCNK3 GDF2 ENG EIF2AK4
10 heart disease 27.3 TBX4 SMAD9 PDE5A NPPB KCNA5 HTR2A
11 pulmonary hypertension 27.1 TBX4 SMAD9 PDE5A NPPB KCNK3 KCNA5
12 pulmonary venoocclusive disease 2, autosomal recessive 11.8
13 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 11.6
14 sarcoidosis 1 10.4
15 pulmonary edema 10.4
16 neuroblastoma 10.3
17 raynaud phenomenon 10.3
18 hepatic veno-occlusive disease 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 lung disease 10.2
26 hypoactive sexual desire disorder 10.1 PDE5A HTR2A
27 psychosexual disorder 10.1 PDE5A HTR2A
28 inhibited female orgasm 10.1 PDE5A HTR2A
29 juvenile polyposis syndrome 10.1 SMAD9 BMPR2 ACVRL1
30 brachydactyly, type a2 10.1 GDF2 BMPR2 ACVRL1
31 pfeiffer syndrome 10.1
32 total anomalous pulmonary venous return 1 10.1
33 atrial standstill 1 10.1
34 burkitt lymphoma 10.1
35 felty syndrome 10.1
36 pulmonary hemosiderosis 10.1
37 down syndrome 10.1
38 suppressor of tumorigenicity 3 10.1
39 myeloma, multiple 10.1
40 polycythemia vera 10.1
41 sudden infant death syndrome 10.1
42 leukemia, acute myeloid 10.1
43 cervical cancer 10.1
44 lymphangioleiomyomatosis 10.1
45 patent ductus arteriosus 1 10.1
46 cyanosis, transient neonatal 10.1
47 aspergillosis 10.1
48 exanthem 10.1
49 crest syndrome 10.1
50 thrombosis 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:


hemoptysis

MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ACVRL1 BMPR2 CAV1 EDN1 ENG GDF2
2 nervous system MP:0003631 10.03 ACVRL1 BMPR2 CAV1 EDN1 EIF2AK4 ENG
3 muscle MP:0005369 9.97 ACVRL1 BMPR2 CAV1 EDN1 EIF2AK4 ENG
4 normal MP:0002873 9.76 ACVRL1 BMPR2 EDN1 ENG KCNK3 PDE5A
5 respiratory system MP:0005388 9.5 ACVRL1 BMPR2 CAV1 ENG GCN1 KCNK3
6 skeleton MP:0005390 9.23 BMPR2 CAV1 EDN1 GCN1 GDF2 HTR2A

Drugs & Therapeutics for Pulmonary Venoocclusive Disease

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Orange Approved Phase 1, Phase 2
2
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
3 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
4 Angiogenesis Inhibitors Phase 1, Phase 2
5 Antineoplastic Agents, Immunological Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 1, Phase 2
7 Protein Kinase Inhibitors Phase 1, Phase 2
8 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 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

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:

40
Heart, Bone Marrow, Lung, Myeloid, Endothelial, Smooth Muscle, Bone

Publications for Pulmonary Venoocclusive Disease

Articles related to Pulmonary Venoocclusive Disease:

(show top 50) (show all 447)
# Title Authors PMID Year
1
Serotonin-induced smooth muscle hyperplasia in various forms of human pulmonary hypertension. 61 54
15059929 2004
2
Characteristics and Long-term Outcomes of Pulmonary Venoocclusive Disease Induced by Mitomycin C. 61
32979348 2021
3
The role of cardiopulmonary exercise test in identifying pulmonary veno-occlusive disease. 61
33653804 2021
4
No Good Deed Goes Unpunished: Mitomycin-Induced Pulmonary Venoocclusive Disease and Cancer. 61
33678275 2021
5
[Screening for pulmonary veno-occlusive disease: A specific approach]. 61
33573875 2021
6
Pulmonary Veno Occlusive Disease Presenting as Failure to Thrive. 61
33447934 2021
7
United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. 61
32858008 2021
8
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties. 61
33477983 2021
9
Upfront triple combination therapy in severe paediatric pulmonary arterial hypertension. 61
32855224 2021
10
Valved reverse Potts shunt in a case of pulmonary hypertension due to pulmonary veno-occlusive disease. 61
33442212 2021
11
Mitomycin C induces pulmonary vascular endothelial-to-mesenchymal transition and pulmonary veno-occlusive disease via Smad3-dependent pathway in rats. 61
33140842 2021
12
Dyspnoea and diffuse pulmonary nodules in a patient with pulmonary veno-occlusive disease: a case report and literature review. 61
33478317 2021
13
[Familial pulmonary veno-occlusive disease with a composite biallelic heterozygous EIF2AK4 mutation]. 61
33071063 2020
14
Pulmonary hypertension secondary to pulmonary veno occlusive disease: Catastrophe in the catheterization laboratory. 61
33311937 2020
15
A Case of Pulmonary Veno-occlusive Disease Following Hepatic Veno-occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma. 61
31335821 2020
16
[Pulmonary involvement in cancers]. 61
33071699 2020
17
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients. 61
33066286 2020
18
Trichloroethylene increases pulmonary endothelial permeability: implication for pulmonary veno-occlusive disease. 61
33149891 2020
19
Gas Exchange and Ventilatory Efficiency During Exercise in Pulmonary Vascular Diseases. 61
32111418 2020
20
Pulmonary capillary hemangiomatosis in Chinese patients without EIF2AK4 mutations. 61
32825965 2020
21
Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report. 61
32631303 2020
22
A case report, a case who developed limited cutaneous scleroderma and pulmonary hypertension 8 years after diagnosis of anti-centromere antibody-positive Sjögren syndrome. 61
33086997 2020
23
Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. 61
32209028 2020
24
Anesthesia for pulmonary veno-occlusive disease: the dilemma and what we should know as anesthesiologists: A case report. 61
32791767 2020
25
Anti-synthetase syndrome-associated pulmonary veno-occlusive disease. 61
32655855 2020
26
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. 61
32547734 2020
27
Two patients with mixed connective tissue disease complicated by pulmonary arterial hypertension showing contrasting responses to pulmonary vasodilators. 61
33087021 2020
28
Molecular Profiling of Vascular Remodeling in Chronic Pulmonary Disease. 61
32275906 2020
29
Pulmonary capillary haemangiomatosis: a distinct entity? 61
32461209 2020
30
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
31501875 2020
31
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. 61
32471403 2020
32
Pulmonary veno-occlusive disease: a probably underdiagnosed cause of pulmonary hypertension in systemic sclerosis. 61
31965379 2020
33
Venoocclusive Disease With Both Hepatic and Pulmonary Involvement. 61
32252933 2020
34
Case 276: Pulmonary Veno-Occlusive Disease and Pulmonary Capillary Hemangiomatosis Disease. 61
32176598 2020
35
Pulmonary vein occlusion and veno-occlusive disease in a bilateral lung transplant patient: A case report. 61
32257789 2020
36
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. 61
32348326 2020
37
Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension. 61
31202500 2020
38
Targeted therapy in pulmonary veno-occlusive disease: time for a rethink? 61
31856792 2019
39
Features of radiological and physiological findings in pulmonary capillary hemangiomatosis: an updated pooled analysis of confirmed diagnostic cases. 61
31908771 2019
40
An Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study. 61
31636247 2019
41
Computed tomographic and clinical features of pulmonary veno-occlusive disease: raising the radiologist's awareness. 61
31178067 2019
42
Racial and Ethnic Differences in Pediatric Pulmonary Hypertension: An Analysis of the Pediatric Pulmonary Hypertension Network Registry. 61
31176455 2019
43
A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica. 61
31337372 2019
44
[Advances in the study of pulmonary veno-occlusive disease]. 61
31365972 2019
45
Understanding the Similarities and Differences between Hepatic and Pulmonary Veno-Occlusive Disease. 61
30926335 2019
46
Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease. 61
30652195 2019
47
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. 61
31099303 2019
48
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
49
Comprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30697960 2019
50
Pulmonary capillary hemangiomatosis diagnosed by pathology of explanted lungs: a unique etiology serves as a key of clinical diagnosis. 61
29804176 2019

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 11.64 EDN1 CAV1 BMPR2
2 11.42 SMAD9 ENG ACVRL1
3 10.47 SMAD9 NPPB BMPR2
4
Show member pathways
10.45 SMAD9 GDF2 CAV1 BMPR2 ACVRL1
5 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 integral component of plasma membrane GO:0005887 9.43 KCNK3 KCNA5 HTR2A CAV1 BMPR2 ACVRL1
2 caveola GO:0005901 8.92 KCNA5 HTR2A CAV1 BMPR2

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.94 KCNK3 HTR2A ENG EDN1
2 positive regulation of angiogenesis GO:0045766 9.87 GDF2 ENG ACVRL1
3 angiogenesis GO:0001525 9.85 TBX4 GDF2 ENG CAV1 ACVRL1
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.84 SMAD9 ENG ACVRL1
5 negative regulation of cell growth GO:0030308 9.83 NPPB GDF2 BMPR2 ACVRL1
6 positive regulation of endothelial cell proliferation GO:0001938 9.79 GDF2 BMPR2 ACVRL1
7 cellular calcium ion homeostasis GO:0006874 9.78 HTR2A EDN1 CAV1 ATP13A3
8 response to hypoxia GO:0001666 9.77 KCNA5 ENG EDN1 CAV1 ACVRL1
9 regulation of blood pressure GO:0008217 9.76 NPPB EDN1 ACVRL1
10 vasculogenesis GO:0001570 9.75 GDF2 ENG CAV1
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.74 EDN1 CAV1 ACVRL1
12 outflow tract septum morphogenesis GO:0003148 9.7 ENG BMPR2
13 negative regulation of endothelial cell migration GO:0010596 9.69 GDF2 ACVRL1
14 regulation of vasoconstriction GO:0019229 9.69 KCNA5 EDN1
15 cellular response to peptide hormone stimulus GO:0071375 9.69 EDN1 CAV1
16 branching involved in blood vessel morphogenesis GO:0001569 9.69 GDF2 ENG EDN1
17 membrane depolarization GO:0051899 9.68 EDN1 CAV1
18 positive regulation of endothelial cell differentiation GO:0045603 9.68 GDF2 ACVRL1
19 vasoconstriction GO:0042310 9.68 EDN1 CAV1
20 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.68 BMPR2 ACVRL1
21 endocardial cushion morphogenesis GO:0003203 9.67 ENG ACVRL1
22 positive regulation of cartilage development GO:0061036 9.67 GDF2 BMPR2
23 negative regulation of nitric-oxide synthase activity GO:0051001 9.67 ENG CAV1
24 blood vessel morphogenesis GO:0048514 9.67 GDF2 EDN1 ACVRL1
25 negative regulation of cytosolic calcium ion concentration GO:0051481 9.66 KCNK3 KCNA5
26 positive regulation of renal sodium excretion GO:0035815 9.65 NPPB EDN1
27 positive regulation of urine volume GO:0035810 9.65 NPPB EDN1
28 negative regulation of systemic arterial blood pressure GO:0003085 9.65 NPPB BMPR2
29 lymphangiogenesis GO:0001946 9.64 BMPR2 ACVRL1
30 response to transforming growth factor beta GO:0071559 9.63 ENG EDN1
31 artery smooth muscle contraction GO:0014824 9.63 HTR2A EDN1
32 cellular response to leucine starvation GO:1990253 9.62 GCN1 EIF2AK4
33 artery development GO:0060840 9.62 BMPR2 ACVRL1
34 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.62 GDF2 ENG BMPR2 ACVRL1
35 retina vasculature development in camera-type eye GO:0061298 9.61 BMPR2 ACVRL1
36 activin receptor signaling pathway GO:0032924 9.61 GDF2 BMPR2 ACVRL1
37 dorsal aorta morphogenesis GO:0035912 9.6 ENG ACVRL1
38 body fluid secretion GO:0007589 9.59 NPPB EDN1
39 negative regulation of DNA biosynthetic process GO:2000279 9.58 GDF2 BMPR2 ACVRL1
40 lymphatic endothelial cell differentiation GO:0060836 9.56 BMPR2 ACVRL1
41 negative regulation of endothelial cell proliferation GO:0001937 9.56 GDF2 ENG CAV1 ACVRL1
42 venous blood vessel development GO:0060841 9.55 BMPR2 ACVRL1
43 endocardial cushion to mesenchymal transition GO:0090500 9.54 ENG ACVRL1
44 cellular response to BMP stimulus GO:0071773 9.46 SMAD9 GDF2 BMPR2 ACVRL1
45 positive regulation of BMP signaling pathway GO:0030513 9.26 GDF2 ENG BMPR2 ACVRL1
46 BMP signaling pathway GO:0030509 9.02 SMAD9 GDF2 ENG BMPR2 ACVRL1

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.67 NPPB KCNA5 EDN1 CAV1
2 transforming growth factor beta binding GO:0050431 9.4 ENG ACVRL1
3 activin binding GO:0048185 9.32 ENG ACVRL1
4 BMP binding GO:0036122 9.26 ENG BMPR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR2 ACVRL1
6 BMP receptor activity GO:0098821 8.96 BMPR2 ACVRL1
7 transforming growth factor beta-activated receptor activity GO:0005024 8.8 ENG BMPR2 ACVRL1

Sources for Pulmonary Venoocclusive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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