PVOD
MCID: PLM025
MIFTS: 47

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 54 26 13 15
Pulmonary Veno-Occlusive Disease 12 77 26 30 56 6 45 41 74
Obstructive Disease of the Pulmonary Veins 54 26
Pvod 54 26
Pulmonary Venoocclusive Disease 1, Autosomal Dominant 74
Venous Form of Primary Pulmonary Hypertension 26
Isolated Pulmonary Venous Sclerosis 26

Classifications:



External Ids:

Disease Ontology 12 DOID:5453
MeSH 45 D011668
NCIt 51 C85039
SNOMED-CT 69 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 EIF2AK4 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4), 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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 51)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1, autosomal dominant 34.1 BMPR2 EIF2AK4
2 pulmonary hypertension, primary, 1 30.2 ACVRL1 BMPR2 KCNK3
3 connective tissue disease 30.1 ACVRL1 BMPR2
4 mixed connective tissue disease 29.9 ACVRL1 BMPR2
5 pulmonary hypertension 28.9 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 leukemia 10.2
11 systemic scleroderma 10.2
12 thrombosis 10.2
13 lung disease 10.2
14 hypertrophic cardiomyopathy 10.2
15 pulmonary embolism 10.1
16 total anomalous pulmonary venous return 1 10.0
17 hashimoto thyroiditis 10.0
18 down syndrome 10.0
19 lung cancer 10.0
20 hypoplastic left heart syndrome 1 10.0
21 myeloma, multiple 10.0
22 neuroblastoma 10.0
23 polycythemia vera 10.0
24 leukemia, acute myeloid 10.0
25 cervical cancer 10.0
26 leukemia, acute lymphoblastic 10.0
27 hematopoietic stem cell transplantation 10.0
28 hypoplastic left heart syndrome 10.0
29 lymphocytic leukemia 10.0
30 pulmonary edema 10.0
31 allergic hypersensitivity disease 10.0
32 granulomatous angiitis 10.0
33 adenocarcinoma 10.0
34 gastric adenocarcinoma 10.0
35 bone marrow cancer 10.0
36 thyroiditis 10.0
37 mediastinitis 10.0
38 polycythemia 10.0
39 myeloid leukemia 10.0
40 rere-related disorders 10.0
41 sickle cell disease 10.0
42 fibrosing mediastinitis 10.0
43 diffuse alveolar hemorrhage 10.0
44 systemic lupus erythematosus 10.0
45 lupus erythematosus 10.0
46 chronic pulmonary heart disease 10.0 ACVRL1 BMPR2
47 telangiectasis 10.0 ACVRL1 BMPR2
48 hepatopulmonary syndrome 10.0 ACVRL1 BMPR2
49 arteriovenous malformation 9.9 ACVRL1 BMPR2
50 arteries, anomalies of 9.7 ACVRL1 BMPR2

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:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.58 ACVRL1 BMPR2 TBX4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.58 ACVRL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.58 TBX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.58 ACVRL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.58 ACVRL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.58 BMPR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 ACVRL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 BMPR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 ACVRL1 TBX4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.58 BMPR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 ACVRL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.58 BMPR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.58 ACVRL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 ACVRL1 BMPR2
15 Decreased substrate adherent cell growth GR00193-A-1 9.56 ACVRL1 APLNR BMPR2
16 Decreased substrate adherent cell growth GR00193-A-3 9.56 APLNR
17 Decreased substrate adherent cell growth GR00193-A-4 9.56 ACVRL1 EIF2AK4
18 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.33 ACVRL1 BMPR2 EIF2AK4

MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease:

47
# 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 23)
# 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 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
4 Antineoplastic Agents, Immunological Phase 1, Phase 2
5 Protein Kinase Inhibitors Phase 1, Phase 2
6 Angiogenesis Inhibitors Phase 1, Phase 2
7 Anti-Bacterial Agents Phase 1, Phase 2
8 Angiogenesis Modulating Agents Phase 1, Phase 2
9
Bosentan Approved, Investigational 147536-97-8 104865
10
Ambrisentan Approved, Investigational 177036-94-1 6918493
11
Methamphetamine Approved, Illicit 537-46-2 10836
12
Cocaine Approved, Illicit 50-36-2 446220 5760
13
Sodium Citrate Approved, Investigational 68-04-2
14
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
15 glutamine Not Applicable
16 Antihypertensive Agents
17 Tryptophan
18 Endothelin Receptor Antagonists
19 Phosphodiesterase 5 Inhibitors
20 Phosphodiesterase Inhibitors
21 Vasodilator Agents
22 Citrate
23 Sildenafil Citrate 171599-83-0

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
6 Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers Not yet recruiting NCT03902353 Not Applicable

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 30

Anatomical Context for Pulmonary Venoocclusive Disease

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease:

42
Lung, Heart, Bone, Bone Marrow, Endothelial, Myeloid, Lymph Node

Publications for Pulmonary Venoocclusive Disease

Articles related to Pulmonary Venoocclusive Disease:

(show top 50) (show all 233)
# Title Authors Year
1
Pulmonary veno-occlusive disease is highly prevalent in scleroderma patients undergoing lung transplantation. ( 30775371 )
2019
2
Extracorporeal Membrane Oxygenation Support During Pregnancy in Pulmonary Veno-occlusive Disease. ( 29428338 )
2019
3
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 30499214 )
2019
4
Comprehensive Three-dimensional Morphology of Neoangiogenesis in Pulmonary Veno-occlusive Disease and Pulmonary Capillary Hemangiomatosis. ( 30697960 )
2019
5
Beneficial Effects of Imatinib in a Patient with Suspected Pulmonary Veno-Occlusive Disease. ( 30700638 )
2019
6
Pulmonary tumor thrombotic microangiopathy and pulmonary veno-occlusive disease in a woman with cervical cancer treated with cediranib and durvalumab. ( 29996818 )
2018
7
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. ( 30518401 )
2018
8
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival. ( 28697925 )
2018
9
Pulmonary veno-occlusive disease in a pediatric hematopoietic stem cell transplant patient: a cautionary tale. ( 28958195 )
2018
10
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease. ( 29108819 )
2018
11
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. ( 29548663 )
2018
12
Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art. ( 29960280 )
2018
13
Lung transplantation as a viable option of treatment for pulmonary veno-occlusive disease. ( 30378654 )
2018
14
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. ( 30473253 )
2018
15
Pulmonary Veno-occlusive Disease: A Surgical Lung Biopsy-proven and Autopsied Case Radiologically Mimicking Hypersensitivity Pneumonitis at the Time of a Transbronchial Lung Biopsy. ( 30568112 )
2018
16
Pulmonary Hypertension Associated with Pulmonary Veno-occlusive Disease in Patients with Polycythemia Vera. ( 28824072 )
2017
17
Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. ( 28087362 )
2017
18
Rapidly progressive pulmonary veno-occlusive disease in an infant with Down syndrome. ( 28782495 )
2017
19
Pulmonary veno-occlusive disease as an occupational lung disease. ( 28463181 )
2017
20
Pulmonary veno-occlusive disease: An important consideration in patients with pulmonary hypertension. ( 29229098 )
2017
21
Sudden Death in a Patient with Pulmonary Veno-occlusive Disease (PVOD) and Severe Pulmonary Hypertension. ( 28768975 )
2017
22
Pulmonary hypertension secondary to pulmonary veno-occlusive disease complicated by right heart failure, hypotension and acute kidney injury. ( 27872804 )
2017
23
Prognostic significance of computed tomography criteria for pulmonary veno-occlusive disease in systemic sclerosis-pulmonary arterial hypertension. ( 29029203 )
2017
24
The First Experience of Pulmonary Veno-occlusive Disease Treatment With Macitentan and Sildenafil. ( 27840150 )
2017
25
Pulmonary veno-occlusive disease: Two children with gradual disease progression. ( 28070482 )
2017
26
Pulmonary veno-occlusive disease: characterising a rare but important disease. ( 28087361 )
2017
27
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 28118962 )
2017
28
Myocardial injury in severe heritable pulmonary veno-occlusive disease. ( 28320632 )
2017
29
Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 28947033 )
2017
30
Lung transplantation for mitomycin-induced pulmonary veno-occlusive disease. ( 29129416 )
2017
31
Pulmonary Veno-Occlusive Disease: Welcome to the PAHty (Bostonian for Party). ( 29158214 )
2017
32
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
33
Favorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis. ( 27045880 )
2016
34
Small Sample Lung Biopsy Findings in Patients With Clinicoradiologic Suspicion of Pulmonary Venoocclusive Disease-Pulmonary Capillary Hemangiomatosis. ( 27623416 )
2016
35
EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature. ( 27684876 )
2016
36
Pulmonary Veno-occlusive Disease and Pulmonary Hypertension in Dogs: Striking Similarities to the Human Condition. ( 27298303 )
2016
37
Pulmonary Veno-Occlusive Disease: A Newly Recognized Cause of Severe Pulmonary Hypertension in Dogs. ( 26926086 )
2016
38
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
39
Pulmonary veno-occlusive disease. ( 27009171 )
2016
40
Letter by Belge et al Regarding Article, "Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models". ( 27045135 )
2016
41
Response to Letter Regarding Article, "Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Model". ( 27045136 )
2016
42
Scintigraphy Leading to the Misdiagnosis of Chronic Thromboembolic Disease in a Patient With Pulmonary Veno-Occlusive Disease. ( 27142608 )
2016
43
Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease. ( 27514598 )
2016
44
Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease. ( 26541523 )
2015
45
Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension in systemic sclerosis. Case presentation and review of the literature . ( 26402988 )
2015
46
Pulmonary veno-occlusive disease as a cause of pulmonary arterial hypertension. ( 26130886 )
2015
47
Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension. ( 25528660 )
2015
48
Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models. ( 26130118 )
2015
49
Letter by Papangeli et al Regarding Article, "The ERG-APLNR Axis Controls Pulmonary Venule Endothelial Proliferation in Pulmonary Veno-Occlusive Disease". ( 26169651 )
2015
50
Response to Letter Regarding Article, "The ERG-APLNR Axis Controls Pulmonary Venule Endothelial Proliferation in Pulmonary Veno-Occlusive Disease". ( 26169652 )
2015

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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