MCID: PLM025
MIFTS: 42

Pulmonary Venoocclusive Disease

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

Aliases & Classifications for Pulmonary Venoocclusive Disease

MalaCards integrated aliases for Pulmonary Venoocclusive Disease:

Name: Pulmonary Venoocclusive Disease 12 49 24 13 14
Pulmonary Veno-Occlusive Disease 12 72 24 28 51 41 69
Obstructive Disease of the Pulmonary Veins 49 24
Pvod 49 24
Pulmonary Venoocclusive Disease 1, Autosomal Dominant 69
Venous Form of Primary Pulmonary Hypertension 24
Isolated Pulmonary Venous Sclerosis 24

Classifications:



External Ids:

Disease Ontology 12 DOID:5453
MeSH 41 D011668
NCIt 46 C85039
SNOMED-CT 64 89420002

Summaries for Pulmonary Venoocclusive Disease

Genetics Home Reference : 24 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 : 72 Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension caused by progressive... more...

Related Diseases for Pulmonary Venoocclusive Disease

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:

25
# 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 ACVRL1 BMPR2 EIF2AK4

MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease:

43
# 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 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 14)
# 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 Angiogenesis 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 123596
7 Protein Kinase Inhibitors Phase 1, Phase 2
8
Cocaine Approved, Illicit 50-36-2 446220 5760
9
Bosentan Approved, Investigational 147536-97-8 104865
10
Methamphetamine Approved, Illicit 537-46-2 10836
11 Endothelin Receptor Antagonists
12 Antihypertensive Agents
13 glutamine Nutraceutical
14 Tryptophan 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 Glutamine
3 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
4 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 28 BMPR2

Anatomical Context for Pulmonary Venoocclusive Disease

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease:

38
Lung, Heart, Bone, Bone Marrow

Publications for Pulmonary Venoocclusive Disease

Articles related to Pulmonary Venoocclusive Disease:

(show all 23)
# Title Authors Year
1
Small Sample Lung Biopsy Findings in Patients With Clinicoradiologic Suspicion of Pulmonary Venoocclusive Disease-Pulmonary Capillary Hemangiomatosis. ( 27623416 )
2016
2
Pulmonary venoocclusive disease in childhood. ( 24503954 )
2014
3
Characteristics of patients with pulmonary venoocclusive disease awaiting transplantation. ( 25296345 )
2014
4
Postradiofrequency ablation inflammatory pseudotumor associated with pulmonary venoocclusive disease: case report and review of the literature. ( 23352326 )
2013
5
Single-lobe lung transplantation for rapidly deteriorating pulmonary venoocclusive disease. ( 23336879 )
2013
6
Computed tomography findings of pulmonary venoocclusive disease in scleroderma patients presenting with precapillary pulmonary hypertension. ( 22549387 )
2012
7
Rapidly progressive pulmonary venoocclusive disease in young women taking oral contraceptives. ( 22884388 )
2012
8
Pulmonary venoocclusive disease and failure of specific therapy. ( 19809068 )
2009
9
Pulmonary hypertension: CT of the chest in pulmonary venoocclusive disease. ( 15208112 )
2004
10
"High probability" perfusion lung scans in pulmonary venoocclusive disease. ( 11069842 )
2000
11
High-resolution CT of the chest in four patients with pulmonary capillary hemangiomatosis or pulmonary venoocclusive disease. ( 9798872 )
1998
12
Pulmonary venoocclusive disease: CT findings in eight patients. ( 8819387 )
1996
13
Pulmonary venoocclusive disease in a patient with systemic lupus erythematosus. ( 8014950 )
1993
14
Pediatric case of the day. Pulmonary venoocclusive disease. ( 8498252 )
1993
15
Pulmonary venoocclusive disease: CT findings before and after single-lung transplantation. ( 8456659 )
1993
16
Segmental contour pattern in a case of pulmonary venoocclusive disease. ( 8403701 )
1993
17
Fatal pulmonary venoocclusive disease after use of oral contraceptives. ( 1462933 )
1992
18
Fatal pulmonary venoocclusive disease secondary to a generalized venulopathy: a new syndrome presenting with facial swelling and pericardial tamponade. ( 1994922 )
1991
19
Pulmonary venoocclusive disease following bone marrow transplantation. ( 2660361 )
1989
20
CT findings in pulmonary venoocclusive disease. ( 6736380 )
1984
21
Pulmonary venoocclusive disease in pregnancy. ( 6738961 )
1984
22
Pulmonary venoocclusive disease: case report and review of the literature. ( 403796 )
1977
23
Pulmonary venoocclusive disease. ( 962409 )
1976

Variations for Pulmonary Venoocclusive Disease

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

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 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 18)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.75 ACVRL1 BMPR2 EIF2AK4
2 protein phosphorylation GO:0006468 9.73 ACVRL1 BMPR2 EIF2AK4
3 negative regulation of cell growth GO:0030308 9.57 ACVRL1 BMPR2
4 BMP signaling pathway GO:0030509 9.55 ACVRL1 BMPR2
5 positive regulation of endothelial cell proliferation GO:0001938 9.54 ACVRL1 BMPR2
6 signal transduction by protein phosphorylation GO:0023014 9.52 ACVRL1 BMPR2
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.51 ACVRL1 BMPR2
8 cellular response to BMP stimulus GO:0071773 9.49 ACVRL1 BMPR2
9 positive regulation of BMP signaling pathway GO:0030513 9.48 ACVRL1 BMPR2
10 blood vessel remodeling GO:0001974 9.46 ACVRL1 BMPR2
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.43 ACVRL1 BMPR2
12 activin receptor signaling pathway GO:0032924 9.4 ACVRL1 BMPR2
13 negative regulation of DNA biosynthetic process GO:2000279 9.37 ACVRL1 BMPR2
14 lymphangiogenesis GO:0001946 9.32 ACVRL1 BMPR2
15 retina vasculature development in camera-type eye GO:0061298 9.26 ACVRL1 BMPR2
16 artery development GO:0060840 9.16 ACVRL1 BMPR2
17 lymphatic endothelial cell differentiation GO:0060836 8.96 ACVRL1 BMPR2
18 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 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

Sources for Pulmonary Venoocclusive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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