PVOD
MCID: PLM025
MIFTS: 46

Pulmonary Venoocclusive Disease (PVOD)

Categories: 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 53 25 13 15
Pulmonary Veno-Occlusive Disease 12 76 25 29 55 6 44 40 73
Obstructive Disease of the Pulmonary Veins 53 25
Pvod 53 25
Pulmonary Venoocclusive Disease 1, Autosomal Dominant 73
Venous Form of Primary Pulmonary Hypertension 25
Isolated Pulmonary Venous Sclerosis 25

Classifications:



External Ids:

Disease Ontology 12 DOID:5453
MeSH 44 D011668
NCIt 50 C85039
SNOMED-CT 68 89420002

Summaries for Pulmonary Venoocclusive Disease

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 BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways is ALK1 signaling events. The drugs Bevacizumab and Orange have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and bone, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 76 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 all 46)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1, autosomal dominant 34.0 BMPR2 EIF2AK4
2 pulmonary hypertension, primary, 1 30.4 ACVRL1 BMPR2 KCNK3
3 connective tissue disease 30.1 ACVRL1 BMPR2
4 mixed connective tissue disease 30.0 ACVRL1 BMPR2
5 pulmonary hypertension 29.4 ACVRL1 BMPR2 EIF2AK4 KCNK3 TBX4
6 pulmonary venoocclusive disease 2, autosomal recessive 12.6
7 scleroderma, familial progressive 10.4
8 lymphoma 10.3
9 hemolytic anemia 10.2
10 thrombosis 10.2
11 lung disease 10.2
12 hypertrophic cardiomyopathy 10.2
13 total anomalous pulmonary venous return 1 10.0
14 down syndrome 10.0
15 lung cancer 10.0
16 hypoplastic left heart syndrome 1 10.0
17 myeloma, multiple 10.0
18 neuroblastoma 10.0
19 polycythemia vera 10.0
20 leukemia, acute myeloid 10.0
21 cervical cancer 10.0
22 leukemia, acute lymphoblastic 10.0
23 hematopoietic stem cell transplantation 10.0
24 hypoplastic left heart syndrome 10.0
25 leukemia 10.0
26 lymphocytic leukemia 10.0
27 pulmonary edema 10.0
28 granulomatous angiitis 10.0
29 adenocarcinoma 10.0
30 gastric adenocarcinoma 10.0
31 thyroiditis 10.0
32 mediastinitis 10.0
33 polycythemia 10.0
34 myeloid leukemia 10.0
35 viral infectious disease 10.0
36 sickle cell disease 10.0
37 fibrosing mediastinitis 10.0
38 diffuse alveolar hemorrhage 10.0
39 chronic pulmonary heart disease 10.0 ACVRL1 BMPR2
40 systemic lupus erythematosus 10.0
41 lupus erythematosus 10.0
42 telangiectasis 10.0 ACVRL1 BMPR2
43 hepatopulmonary syndrome 10.0 ACVRL1 BMPR2
44 arteriovenous malformation 10.0 ACVRL1 BMPR2
45 arteries, anomalies of 9.8 ACVRL1 BMPR2
46 heritable pulmonary arterial hypertension 9.4 ACVRL1 BMPR2 EIF2AK4 KCNK3 TBX4

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

GenomeRNAi Phenotypes related to Pulmonary Venoocclusive Disease according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.56 ACVRL1 APLNR BMPR2
2 Decreased substrate adherent cell growth GR00193-A-3 9.56 APLNR
3 Decreased substrate adherent cell growth GR00193-A-4 9.56 ACVRL1 EIF2AK4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 ACVRL1 BMPR2 TBX4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.55 ACVRL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.55 TBX4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 ACVRL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.55 ACVRL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.55 BMPR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 ACVRL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.55 BMPR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 ACVRL1 TBX4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.55 ACVRL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.55 BMPR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.55 ACVRL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 ACVRL1 BMPR2
17 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.33 ACVRL1 BMPR2 EIF2AK4

MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ACVRL1 APLNR BMPR2 EIF2AK4 KCNK3
2 cardiovascular system MP:0005385 9.77 ACVRL1 APLNR BMPR2 KCNK3 TBX4
3 homeostasis/metabolism MP:0005376 9.73 ACVRL1 APLNR BMPR2 EIF2AK4 KCNK3 TBX4
4 embryo MP:0005380 9.62 ACVRL1 APLNR BMPR2 TBX4
5 muscle MP:0005369 9.46 ACVRL1 APLNR BMPR2 EIF2AK4
6 nervous system MP:0003631 9.35 ACVRL1 BMPR2 EIF2AK4 KCNK3 TBX4
7 respiratory system MP:0005388 8.92 ACVRL1 APLNR BMPR2 KCNK3

Drugs & Therapeutics for Pulmonary Venoocclusive Disease

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
2 Orange Approved Phase 1, Phase 2
3 Protein Kinase Inhibitors Phase 1, Phase 2
4 Angiogenesis Modulating Agents 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
Cocaine Approved, Illicit 50-36-2 5760 446220
9
Ambrisentan Approved, Investigational 177036-94-1 6918493
10
Bosentan Approved, Investigational 147536-97-8 104865
11
Methamphetamine Approved, Illicit 537-46-2 10836
12
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
13 glutamine Not Applicable
14 Tryptophan
15 Antihypertensive Agents
16 Endothelin Receptor Antagonists
17 Sildenafil Citrate 171599-83-0
18 Phosphodiesterase Inhibitors
19 Vasodilator Agents
20 Citrate
21 Phosphodiesterase 5 Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study Using Avastin and Gleevec to Treat the Progression of Intraluminal Pulmonary Vein Stenosis Completed NCT00891527 Phase 1, Phase 2 Bevacizumab (Avastin) and Imatinib Mesylate (Gleevec)
2 Effects on Glutamine on the Outcome of Allogeneic Bone Marrow Transplant Recipients Unknown status NCT00563498 Not Applicable Glutamine
3 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
4 Special Investigation For Long-Term Use Of Sildenafil (Regulatory Post Marketing Commitment Plan) Completed NCT00666198 SILDENAFIL
5 Registration Study for Rare Type of Pulmonary Hypertension Recruiting NCT03169010

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 Veno-Occlusive Disease 29 BMPR2

Anatomical Context for Pulmonary Venoocclusive Disease

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease:

41
Lung, Heart, Bone, Bone Marrow, Endothelial, Myeloid, Thyroid

Publications for Pulmonary Venoocclusive Disease

Articles related to Pulmonary Venoocclusive Disease:

(show top 50) (show all 229)
# Title Authors Year
1
Pulmonary tumor thrombotic microangiopathy and pulmonary veno-occlusive disease in a woman with cervical cancer treated with cediranib and durvalumab. ( 29996818 )
2018
2
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. ( 30518401 )
2018
3
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival. ( 28697925 )
2018
4
Pulmonary veno-occlusive disease in a pediatric hematopoietic stem cell transplant patient: a cautionary tale. ( 28958195 )
2018
5
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease. ( 29108819 )
2018
6
Extracorporeal Membrane Oxygenation Support During Pregnancy in Pulmonary Veno-occlusive Disease. ( 29428338 )
2018
7
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. ( 29548663 )
2018
8
Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art. ( 29960280 )
2018
9
Lung transplantation as a viable option of treatment for pulmonary veno-occlusive disease. ( 30378654 )
2018
10
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. ( 30473253 )
2018
11
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 30499214 )
2018
12
Pulmonary Hypertension Associated with Pulmonary Veno-occlusive Disease in Patients with Polycythemia Vera. ( 28824072 )
2017
13
Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. ( 28087362 )
2017
14
Rapidly progressive pulmonary veno-occlusive disease in an infant with Down syndrome. ( 28782495 )
2017
15
Pulmonary veno-occlusive disease as an occupational lung disease. ( 28463181 )
2017
16
Pulmonary veno-occlusive disease: An important consideration in patients with pulmonary hypertension. ( 29229098 )
2017
17
Prognostic significance of computed tomography criteria for pulmonary veno-occlusive disease in systemic sclerosis-pulmonary arterial hypertension. ( 29029203 )
2017
18
The First Experience of Pulmonary Veno-occlusive Disease Treatment With Macitentan and Sildenafil. ( 27840150 )
2017
19
Pulmonary hypertension secondary to pulmonary veno-occlusive disease complicated by right heart failure, hypotension and acute kidney injury. ( 27872804 )
2017
20
Pulmonary veno-occlusive disease: Two children with gradual disease progression. ( 28070482 )
2017
21
Pulmonary veno-occlusive disease: characterising a rare but important disease. ( 28087361 )
2017
22
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 28118962 )
2017
23
Myocardial injury in severe heritable pulmonary veno-occlusive disease. ( 28320632 )
2017
24
Sudden Death in a Patient with Pulmonary Veno-occlusive Disease (PVOD) and Severe Pulmonary Hypertension. ( 28768975 )
2017
25
Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 28947033 )
2017
26
Lung transplantation for mitomycin-induced pulmonary veno-occlusive disease. ( 29129416 )
2017
27
Pulmonary Veno-Occlusive Disease: Welcome to the PAHty (Bostonian for Party). ( 29158214 )
2017
28
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
29
Favorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis. ( 27045880 )
2016
30
Small Sample Lung Biopsy Findings in Patients With Clinicoradiologic Suspicion of Pulmonary Venoocclusive Disease-Pulmonary Capillary Hemangiomatosis. ( 27623416 )
2016
31
EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature. ( 27684876 )
2016
32
Founder mutation C.3344C>t(p.Pro1115Leu) in the EIF2KA4 gene in iberian romani patients with pulmonary veno-occlusive disease: A warning for our daily practice. ( 26915523 )
2016
33
Pulmonary Veno-Occlusive Disease: A Newly Recognized Cause of Severe Pulmonary Hypertension in Dogs. ( 26926086 )
2016
34
Pulmonary veno-occlusive disease. ( 27009171 )
2016
35
Letter by Belge et al Regarding Article, "Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models". ( 27045135 )
2016
36
Response to Letter Regarding Article, "Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Model". ( 27045136 )
2016
37
Scintigraphy Leading to the Misdiagnosis of Chronic Thromboembolic Disease in a Patient With Pulmonary Veno-Occlusive Disease. ( 27142608 )
2016
38
Pulmonary Veno-occlusive Disease and Pulmonary Hypertension in Dogs: Striking Similarities to the Human Condition. ( 27298303 )
2016
39
Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease. ( 27514598 )
2016
40
Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease. ( 26541523 )
2015
41
Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension. ( 25528660 )
2015
42
Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models. ( 26130118 )
2015
43
Pulmonary veno-occlusive disease as a cause of pulmonary arterial hypertension. ( 26130886 )
2015
44
Letter by Papangeli et al Regarding Article, "The ERG-APLNR Axis Controls Pulmonary Venule Endothelial Proliferation in Pulmonary Veno-Occlusive Disease". ( 26169651 )
2015
45
Response to Letter Regarding Article, "The ERG-APLNR Axis Controls Pulmonary Venule Endothelial Proliferation in Pulmonary Veno-Occlusive Disease". ( 26169652 )
2015
46
Gemcitabine-Induced Pulmonary Toxicity: A Case Report of Pulmonary Veno-Occlusive Disease. ( 26380562 )
2015
47
Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension in systemic sclerosis. Case presentation and review of the literature . ( 26402988 )
2015
48
Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations. ( 25142489 )
2014
49
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. ( 24292273 )
2014
50
Pulmonary venoocclusive disease in childhood. ( 24503954 )
2014

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
Show member pathways
10.05 ACVRL1 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 8.92 ACVRL1 APLNR BMPR2 KCNK3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.77 ACVRL1 BMPR2 EIF2AK4
2 protein phosphorylation GO:0006468 9.75 ACVRL1 BMPR2 EIF2AK4
3 angiogenesis GO:0001525 9.63 ACVRL1 APLNR TBX4
4 negative regulation of cell growth GO:0030308 9.58 ACVRL1 BMPR2
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.57 ACVRL1 BMPR2
6 BMP signaling pathway GO:0030509 9.56 ACVRL1 BMPR2
7 positive regulation of endothelial cell proliferation GO:0001938 9.55 ACVRL1 BMPR2
8 pattern specification process GO:0007389 9.54 ACVRL1 BMPR2
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.52 ACVRL1 BMPR2
10 cellular response to BMP stimulus GO:0071773 9.51 ACVRL1 BMPR2
11 positive regulation of BMP signaling pathway GO:0030513 9.49 ACVRL1 BMPR2
12 blood vessel remodeling GO:0001974 9.48 ACVRL1 BMPR2
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.43 ACVRL1 BMPR2
14 activin receptor signaling pathway GO:0032924 9.4 ACVRL1 BMPR2
15 negative regulation of DNA biosynthetic process GO:2000279 9.37 ACVRL1 BMPR2
16 lymphangiogenesis GO:0001946 9.32 ACVRL1 BMPR2
17 artery development GO:0060840 9.26 ACVRL1 BMPR2
18 retina vasculature development in camera-type eye GO:0061298 9.16 ACVRL1 BMPR2
19 lymphatic endothelial cell differentiation GO:0060836 8.96 ACVRL1 BMPR2
20 venous blood vessel development GO:0060841 8.62 ACVRL1 BMPR2

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.61 ACVRL1 BMPR2 EIF2AK4
2 protein kinase activity GO:0004672 9.58 ACVRL1 BMPR2 EIF2AK4
3 protein serine/threonine kinase activity GO:0004674 9.54 ACVRL1 BMPR2 EIF2AK4
4 SMAD binding GO:0046332 9.32 ACVRL1 BMPR2
5 growth factor binding GO:0019838 9.26 ACVRL1 BMPR2
6 transforming growth factor beta-activated receptor activity GO:0005024 9.16 ACVRL1 BMPR2
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 ACVRL1 BMPR2
8 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Pulmonary Venoocclusive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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