PVOD
MCID: PLM025
MIFTS: 42

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 53 25 15
Pulmonary Veno-Occlusive Disease 12 75 25 44 72
Obstructive Disease of the Pulmonary Veins 53 25
Pvod 53 25
Pulmonary Venoocclusive Disease 1, Autosomal Dominant 72
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
UMLS 72 C0034091 C3887658

Summaries for Pulmonary Venoocclusive Disease

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. 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 telangiectasis, 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 Orange and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and lymph node, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Wikipedia : 75 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 99)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1, autosomal dominant 34.4 EIF2AK4 BMPR2
2 telangiectasis 30.3 BMPR2 ACVRL1
3 mixed connective tissue disease 30.2 BMPR2 ACVRL1
4 pulmonary hypertension, primary, 1 29.9 KCNK3 BMPR2 ACVRL1
5 connective tissue disease 29.8 BMPR2 ACVRL1
6 pulmonary hypertension 28.6 TBX4 KCNK3 EIF2AK4 BMPR2 ACVRL1
7 heritable pulmonary arterial hypertension 28.4 TBX4 KCNK3 EIF2AK4 BMPR2 ACVRL1
8 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 12.8
9 pulmonary venoocclusive disease 2, autosomal recessive 12.8
10 hepatic veno-occlusive disease 10.5
11 sarcoidosis 1 10.4
12 pulmonary edema 10.3
13 neuroblastoma 1 10.3
14 raynaud phenomenon 10.3
15 hematopoietic stem cell transplantation 10.3
16 atrial standstill 1 10.2
17 lymphoma 10.2
18 thrombosis 10.2
19 hemosiderosis 10.2
20 myeloproliferative neoplasm 10.2
21 idiopathic interstitial pneumonia 10.2
22 pulmonary fibrosis 10.2
23 hemolytic anemia 10.2
24 hypertrophic cardiomyopathy 10.2
25 hydrops, lactic acidosis, and sideroblastic anemia 10.2
26 pulmonary embolism 10.2
27 pfeiffer syndrome 10.1
28 total anomalous pulmonary venous return 1 10.1
29 burkitt lymphoma 10.1
30 felty syndrome 10.1
31 pulmonary hemosiderosis 10.1
32 down syndrome 10.1
33 suppressor of tumorigenicity 3 10.1
34 lung cancer 10.1
35 immune deficiency disease 10.1
36 myeloma, multiple 10.1
37 pancreatic cancer 10.1
38 polycythemia vera 10.1
39 sudden infant death syndrome 10.1
40 leukemia, acute myeloid 10.1
41 cervical cancer 10.1
42 lymphangioleiomyomatosis 10.1
43 patent ductus arteriosus 1 10.1
44 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
45 cyanosis, transient neonatal 10.1
46 aspergillosis 10.1
47 exanthem 10.1
48 crest syndrome 10.1
49 castleman disease 10.1
50 parotitis 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

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

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 11)
# 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 Angiogenesis Inhibitors Phase 1, Phase 2
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Angiogenesis Modulating Agents Phase 1, Phase 2
6 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
7 Protein Kinase Inhibitors Phase 1, Phase 2
8 Antineoplastic Agents, Immunological Phase 1, Phase 2
9
Nitric Oxide Approved 10102-43-9 145068
10
Carbon monoxide Approved, Investigational 630-08-0 281
11 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
3 Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers Not yet recruiting NCT03902353

Search NIH Clinical Center for Pulmonary Venoocclusive Disease

Cochrane evidence based reviews: pulmonary veno-occlusive disease

Genetic Tests for Pulmonary Venoocclusive Disease

Anatomical Context for Pulmonary Venoocclusive Disease

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease:

41
Lung, Heart, Lymph Node, Testes, Skin, Bone, Bone Marrow

Publications for Pulmonary Venoocclusive Disease

Articles related to Pulmonary Venoocclusive Disease:

(show top 50) (show all 410)
# Title Authors PMID Year
1
Computed tomographic and clinical features of pulmonary veno-occlusive disease: raising the radiologist's awareness. 38
31178067 2019
2
Racial and Ethnic Differences in Pediatric Pulmonary Hypertension: An Analysis of the Pediatric Pulmonary Hypertension Network Registry. 38
31176455 2019
3
A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica. 38
31337372 2019
4
A Case of Pulmonary Veno-Occlusive Disease Following Hepatic Veno-Occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma. 38
31335821 2019
5
[Advances in the study of pulmonary veno-occlusive disease]. 38
31365972 2019
6
Understanding the Similarities and Differences between Hepatic and Pulmonary Veno-Occlusive Disease. 38
30926335 2019
7
Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension. 38
31202500 2019
8
Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease. 38
30652195 2019
9
Pulmonary Veno-occlusive Disease: A Surgical Lung Biopsy-proven and Autopsied Case Radiologically Mimicking Hypersensitivity Pneumonitis at the Time of a Transbronchial Lung Biopsy. 38
30568112 2019
10
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. 38
31099303 2019
11
Comprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 38
30697960 2019
12
Tumoral pulmonary hypertension. 38
30728162 2019
13
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. 38
30473253 2019
14
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. 38
30578383 2019
15
Pulmonary capillary hemangiomatosis diagnosed by pathology of explanted lungs: a unique etiology serves as a key of clinical diagnosis. 38
29804176 2019
16
Beneficial Effects of Imatinib in a Patient with Suspected Pulmonary Veno-Occlusive Disease. 38
30700638 2019
17
Extracorporeal Membrane Oxygenation Support During Pregnancy in Pulmonary Veno-occlusive Disease. 38
29428338 2019
18
Pulmonary veno-occlusive disease is highly prevalent in scleroderma patients undergoing lung transplantation. 38
30775371 2019
19
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 38
30499214 2019
20
Haemodynamic definitions and updated clinical classification of pulmonary hypertension. 38
30545968 2019
21
The 6th World Symposium on Pulmonary Hypertension: what's old is new. 38
31249672 2019
22
Pathology and pathobiology of pulmonary hypertension: state of the art and research perspectives. 38
30545970 2019
23
Pulmonary Veno-Occlusive Disease: A Rare Cause of Pulmonary Hypertension. 38
31010327 2019
24
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. 38
30679663 2019
25
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. 38
30518401 2018
26
Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation. 38
30285736 2018
27
Respiratory failure in the hematopoietic stem cell transplant recipient. 38
30370228 2018
28
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. 38
29548663 2018
29
Drug-associated pulmonary arterial hypertension. 38
29508628 2018
30
Pulmonary tumor thrombotic microangiopathy and pulmonary veno-occlusive disease in a woman with cervical cancer treated with cediranib and durvalumab. 38
29996818 2018
31
Lung Transplantation in Pulmonary Hypertension: A Multidisciplinary Unit's Management Experience. 38
29880377 2018
32
Pulmonary veno-occlusive disease in a pediatric hematopoietic stem cell transplant patient: a cautionary tale. 38
28958195 2018
33
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease. 38
29108819 2018
34
[Pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis: A case report and literature review]. 38
29886475 2018
35
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. 38
29743074 2018
36
Global Pulmonary Vascular Remodeling in Pulmonary Hypertension Associated With Heart Failure and Preserved or Reduced Ejection Fraction. 38
29246894 2018
37
[Pulmonary veno-occlusive disease]. 38
29501213 2018
38
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival. 38
28697925 2018
39
Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art. 38
29960280 2018
40
Lung transplantation as a viable option of treatment for pulmonary veno-occlusive disease. 38
30378654 2018
41
[Clinical and imaging features of pulmonary veno-occlusive disease and pulmonary capillary hemangioma]. 38
29343015 2018
42
Respiratory effects of trichloroethylene. 38
29413507 2018
43
Lung transplantation for mitomycin-induced pulmonary veno-occlusive disease. 38
29129416 2017
44
Prognostic significance of computed tomography criteria for pulmonary veno-occlusive disease in systemic sclerosis-pulmonary arterial hypertension. 38
29029203 2017
45
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. 38
28972005 2017
46
Pulmonary veno-occlusive disease: An important consideration in patients with pulmonary hypertension. 38
29229098 2017
47
Pulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat. 38
28754081 2017
48
Pulmonary Veno-Occlusive Disease: Welcome to the PAHty (Bostonian for Party). 38
29158214 2017
49
[Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases]. 38
29045954 2017
50
Pulmonary arterial hypertension and acute respiratory distress syndrome in a patient with adult-onset stills disease. 38
29168664 2017

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 BMPR2 ACVRL1

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 KCNK3 BMPR2 APLNR ACVRL1

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

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

Sources for Pulmonary Venoocclusive Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....