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MCID: PLM025
MIFTS: 43

Pulmonary Venoocclusive Disease

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pulmonary Venoocclusive Disease

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Respiratory diseases
See all MalaCards categories (disease lists)


External Ids:

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

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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.

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, 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...

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Related Diseases for Pulmonary Venoocclusive Disease

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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 12)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1, autosomal dominant 33.9 BMPR2 EIF2AK4
2 pulmonary hypertension 27.7 ACVRL1 BMPR2 EIF2AK4 KCNK3
3 pulmonary venoocclusive disease 2, autosomal recessive 12.5
4 systemic lupus erythematosus 9.9
5 lupus erythematosus 9.9
6 chronic pulmonary heart disease 9.8 ACVRL1 BMPR2
7 telangiectasis 9.8 ACVRL1 BMPR2
8 mixed connective tissue disease 9.7 ACVRL1 BMPR2
9 arteriovenous malformation 9.6 ACVRL1 BMPR2
10 connective tissue disease 9.4 ACVRL1 BMPR2
11 pulmonary hypertension, primary, 1 9.0 ACVRL1 BMPR2 KCNK3
12 heritable pulmonary arterial hypertension 8.5 ACVRL1 BMPR2 EIF2AK4 KCNK3

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



Diseases related to Pulmonary Venoocclusive Disease
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Symptoms & Phenotypes for Pulmonary Venoocclusive Disease

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UMLS symptoms related to Pulmonary Venoocclusive Disease:


hemoptysis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.23 ACVRL1 APLNR BMPR2
2 Decreased substrate adherent cell growth GR00193-A-3 9.23 APLNR
3 Decreased substrate adherent cell growth GR00193-A-4 9.23 ACVRL1 EIF2AK4
4 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 BMPR2 EIF2AK4 ACVRL1

MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 APLNR BMPR2 EIF2AK4 HTR2A KCNK3 ACVRL1
2 muscle MP:0005369 9.35 APLNR BMPR2 EIF2AK4 HTR2A ACVRL1
3 respiratory system MP:0005388 8.92 APLNR BMPR2 KCNK3 ACVRL1
Sources

Drugs & Therapeutics for Pulmonary Venoocclusive Disease

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
2 Orange Approved, Nutraceutical Phase 1, Phase 2
3 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
4 Angiogenesis Inhibitors Phase 1, Phase 2
5 Angiogenesis Modulating Agents Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 1, Phase 2
7 Protein Kinase Inhibitors Phase 1, Phase 2
8
Cocaine Approved, Illicit 50-36-2 5760 446220
9
Bosentan Approved, Investigational 147536-97-8 104865
10
Methamphetamine Approved, Illicit 537-46-2 10836
11
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
12 Endothelin Receptor Antagonists
13 Antihypertensive Agents
14 Sildenafil Citrate 171599-83-0
15 Vasodilator Agents
16 Phosphodiesterase 5 Inhibitors
17 Phosphodiesterase Inhibitors
18 glutamine Nutraceutical Not Applicable
19 Tryptophan Nutraceutical
20 Citrate Nutraceutical

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 Active, not recruiting 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

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Genetic Tests for Pulmonary Venoocclusive Disease

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Genetic tests related to Pulmonary Venoocclusive Disease:

# Genetic test Affiliating Genes
1 Pulmonary Veno-Occlusive Disease 29 BMPR2
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Anatomical Context for Pulmonary Venoocclusive Disease

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MalaCards organs/tissues related to Pulmonary Venoocclusive Disease:

41
Lung, Heart, Bone, Bone Marrow, Endothelial, Myeloid
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Publications for Pulmonary Venoocclusive Disease

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Articles related to Pulmonary Venoocclusive Disease:

(show top 50) (show all 52)
# Title Authors Year
1
Pulmonary Hypertension Associated with Pulmonary Veno-occlusive Disease in Patients with Polycythemia Vera. ( 28824072 )
2017
2
Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. ( 28087362 )
2017
3
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
4
Favorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis. ( 27045880 )
2016
5
Small Sample Lung Biopsy Findings in Patients With Clinicoradiologic Suspicion of Pulmonary Venoocclusive Disease-Pulmonary Capillary Hemangiomatosis. ( 27623416 )
2016
6
EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature. ( 27684876 )
2016
7
Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease. ( 26541523 )
2015
8
Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations. ( 25142489 )
2014
9
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. ( 24292273 )
2014
10
Pulmonary venoocclusive disease in childhood. ( 24503954 )
2014
11
Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation. ( 25296345 )
2014
12
ERG-APLNR axis controls pulmonary venule endothelial proliferation in pulmonary veno-occlusive disease. ( 25062690 )
2014
13
Postradiofrequency ablation inflammatory pseudotumor associated with pulmonary venoocclusive disease: case report and review of the literature. ( 23352326 )
2013
14
Different sizes of centrilobular ground-glass opacities in chest high-resolution computed tomography of patients with pulmonary veno-occlusive disease and patients with pulmonary capillary hemangiomatosis. ( 23312620 )
2013
15
Cytotoxic cells and granulysin in pulmonary arterial hypertension and pulmonary veno-occlusive disease. ( 23220918 )
2013
16
Single-lobe lung transplantation for rapidly deteriorating pulmonary venoocclusive disease. ( 23336879 )
2013
17
Hypoplastic left heart syndrome and pulmonary veno-occlusive disease in an infant. ( 22961346 )
2013
18
Pulmonary veno-occlusive disease following reduced-intensity allogeneic bone marrow transplantation for acute myeloid leukemia. ( 22246490 )
2012
19
Rapidly progressive pulmonary venoocclusive disease in young women taking oral contraceptives. ( 22884388 )
2012
20
Safety and efficacy of epoprostenol therapy in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 22481098 )
2012
21
Computed tomography findings of pulmonary venoocclusive disease in scleroderma patients presenting with precapillary pulmonary hypertension. ( 22549387 )
2012
22
Platelet-derived growth factor receptor-I^ and epidermal growth factor receptor in pulmonary vasculature of systemic sclerosis-associated pulmonary arterial hypertension versus idiopathic pulmonary arterial hypertension and pulmonary veno-occlusive disease: a case-control study. ( 21492463 )
2011
23
Long-term remission of pulmonary veno-occlusive disease associated with primary SjAPgren's syndrome following immunosuppressive therapy. ( 21394665 )
2011
24
Fatal pulmonary veno-occlusive disease after chemotherapy for Burkitt's lymphoma. ( 21696511 )
2011
25
Granulomatous angiitis leading to a pulmonary veno-occlusive disease-like picture. ( 19251802 )
2009
26
Pulmonary veno-occlusive disease in myeloproliferative disorder. ( 19118232 )
2009
27
Pulmonary venoocclusive disease and failure of specific therapy. ( 19809068 )
2009
28
Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease. ( 17520258 )
2007
29
From the Archives of the AFIP: pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 17495297 )
2007
30
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: a clinicopathologic study of 35 cases. ( 16819327 )
2006
31
Pulmonary hypertension: CT of the chest in pulmonary venoocclusive disease. ( 15208112 )
2004
32
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. ( 12446270 )
2003
33
Pulmonary veno-occlusive disease after neoadjuvant mitomycin chemotherapy and surgery for lung carcinoma. ( 11955658 )
2002
34
"High probability" perfusion lung scans in pulmonary venoocclusive disease. ( 11069842 )
2000
35
Venous and arterial changes in pulmonary veno-occlusive disease, mitral stenosis and fibrosing mediastinitis. ( 10678631 )
2000
36
High-resolution CT of the chest in four patients with pulmonary capillary hemangiomatosis or pulmonary venoocclusive disease. ( 9798872 )
1998
37
Pulmonary veno-occlusive disease complicating Felty's syndrome. ( 9893784 )
1998
38
Pulmonary venoocclusive disease: CT findings in eight patients. ( 8819387 )
1996
39
Pulmonary venoocclusive disease: CT findings before and after single-lung transplantation. ( 8456659 )
1993
40
Pediatric case of the day. Pulmonary venoocclusive disease. ( 8498252 )
1993
41
Pulmonary venoocclusive disease in a patient with systemic lupus erythematosus. ( 8014950 )
1993
42
Segmental contour pattern in a case of pulmonary venoocclusive disease. ( 8403701 )
1993
43
Fatal pulmonary venoocclusive disease after use of oral contraceptives. ( 1462933 )
1992
44
Death due to diffuse alveolar hemorrhage in a child with pulmonary veno-occlusive disease. ( 1935313 )
1991
45
Fatal pulmonary venoocclusive disease secondary to a generalized venulopathy: a new syndrome presenting with facial swelling and pericardial tamponade. ( 1994922 )
1991
46
Pulmonary venoocclusive disease following bone marrow transplantation. ( 2660361 )
1989
47
Pulmonary venoocclusive disease in pregnancy. ( 6738961 )
1984
48
CT findings in pulmonary venoocclusive disease. ( 6736380 )
1984
49
Pulmonary veno-occlusive disease in siblings: case reports and morphometric study. ( 7129408 )
1982
50
Pulmonary venoocclusive disease: case report and review of the literature. ( 403796 )
1977
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Variations for Pulmonary Venoocclusive Disease

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ClinVar genetic disease variations for Pulmonary Venoocclusive Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 NM_001204.6(BMPR2): c.1120delA (p.I374*) deletion Pathogenic rs1085307300 GRCh37 Chromosome 2, 203395669: 203395669
2 BMPR2 NM_001204.6(BMPR2): c.1120delA (p.I374*) deletion Pathogenic rs1085307300 GRCh38 Chromosome 2, 202530946: 202530946
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Expression for Pulmonary Venoocclusive Disease

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

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

# Super pathways Score Top Affiliating Genes
1
ALK1 signaling events 1
Show member pathways
 10.05 ACVRL1 BMPR2
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GO Terms for Pulmonary Venoocclusive Disease

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

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.33 ACVRL1 BMPR2 HTR2A
2 caveola GO:0005901 9.26 BMPR2 HTR2A
3 neuronal cell body GO:0043025 9.13 ACVRL1 BMPR2 HTR2A
4 integral component of plasma membrane GO:0005887 9.02 ACVRL1 APLNR BMPR2 HTR2A KCNK3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.76 ACVRL1 BMPR2 EIF2AK4
2 protein phosphorylation GO:0006468 9.74 ACVRL1 BMPR2 EIF2AK4
3 negative regulation of cell growth GO:0030308 9.58 ACVRL1 BMPR2
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.56 ACVRL1 BMPR2
5 BMP signaling pathway GO:0030509 9.55 ACVRL1 BMPR2
6 signal transduction by protein phosphorylation GO:0023014 9.54 ACVRL1 BMPR2
7 positive regulation of endothelial cell proliferation GO:0001938 9.52 ACVRL1 BMPR2
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.51 ACVRL1 BMPR2
9 cellular response to BMP stimulus GO:0071773 9.49 ACVRL1 BMPR2
10 positive regulation of BMP signaling pathway GO:0030513 9.48 ACVRL1 BMPR2
11 blood vessel remodeling GO:0001974 9.46 ACVRL1 BMPR2
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.43 ACVRL1 BMPR2
13 activin receptor signaling pathway GO:0032924 9.4 ACVRL1 BMPR2
14 lymphangiogenesis GO:0001946 9.37 ACVRL1 BMPR2
15 negative regulation of DNA biosynthetic process GO:2000279 9.32 ACVRL1 BMPR2
16 artery development GO:0060840 9.26 ACVRL1 BMPR2
17 retina vasculature development in camera-type eye GO:0061298 9.16 ACVRL1 BMPR2
18 lymphatic endothelial cell differentiation GO:0060836 8.96 ACVRL1 BMPR2
19 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 9.54 ACVRL1 BMPR2 EIF2AK4
2 protein kinase activity GO:0004672 9.5 ACVRL1 BMPR2 EIF2AK4
3 protein serine/threonine kinase activity GO:0004674 9.43 ACVRL1 BMPR2 EIF2AK4
4 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.16 ACVRL1 BMPR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 ACVRL1 BMPR2
6 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2
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Sources for Pulmonary Venoocclusive Disease

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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