PVOD1
MCID: PLM170
MIFTS: 45

Pulmonary Venoocclusive Disease 1, Autosomal Dominant (PVOD1)

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

Aliases & Classifications for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

MalaCards integrated aliases for Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

Name: Pulmonary Venoocclusive Disease 1, Autosomal Dominant 56 73 29 6 71
Pulmonary Veno-Occlusive Disease 73 54 39 71
Pulmonary Venoocclusive Disease 1 56 29 6
Pvod1 56 73
Pvod 56 73
Pulmonary Venoocclusive Disease 58

Characteristics:

Orphanet epidemiological data:

58
pulmonary venoocclusive disease
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (France),<1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable clinical presentation


HPO:

31
pulmonary venoocclusive disease 1, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM 56 265450
OMIM Phenotypic Series 56 PS265450
MESH via Orphanet 44 D011668
UMLS via Orphanet 72 C0034091
Orphanet 58 ORPHA31837
UMLS 71 C0034091 C3887658

Summaries for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

OMIM : 56 Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see 178600), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008). (265450)

MalaCards based summary : Pulmonary Venoocclusive Disease 1, Autosomal Dominant, also known as pulmonary veno-occlusive disease, is related to pulmonary venoocclusive disease and heritable pulmonary arterial hypertension, and has symptoms including hemoptysis An important gene associated with Pulmonary Venoocclusive Disease 1, Autosomal Dominant is BMPR2 (Bone Morphogenetic Protein Receptor Type 2). The drugs Bevacizumab and Orange have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and heart, and related phenotypes are interlobular septal thickening on pulmonary hrct and abnormally loud pulmonic component of the second heart sound

UniProtKB/Swiss-Prot : 73 Pulmonary venoocclusive disease 1, autosomal dominant: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension.

Related Diseases for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 31.6 EIF2AK4 BMPR2
2 heritable pulmonary arterial hypertension 29.6 EIF2AK4 BMPR2
3 vascular disease 29.1 HTR2A BMPR2
4 pulmonary hypertension 29.1 HTR2A EIF2AK4 BMPR2
5 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 12.8
6 pulmonary venoocclusive disease 2, autosomal recessive 11.3
7 hepatic veno-occlusive disease 10.5
8 pulmonary hypertension, primary, 1 10.4
9 sarcoidosis 1 10.4
10 pulmonary edema 10.3
11 neuroblastoma 10.3
12 raynaud phenomenon 10.3
13 atrial standstill 1 10.2
14 lymphoma 10.2
15 thrombosis 10.2
16 hypertrophic cardiomyopathy 10.2
17 hemosiderosis 10.2
18 telangiectasis 10.2
19 myeloproliferative neoplasm 10.2
20 mixed connective tissue disease 10.2
21 pulmonary fibrosis 10.2
22 hemolytic anemia 10.2
23 myeloid leukemia 10.2
24 idiopathic/heritable pulmonary arterial hypertension 10.2
25 pulmonary embolism 10.2
26 pfeiffer syndrome 10.1
27 total anomalous pulmonary venous return 1 10.1
28 burkitt lymphoma 10.1
29 felty syndrome 10.1
30 pulmonary hemosiderosis 10.1
31 down syndrome 10.1
32 suppressor of tumorigenicity 3 10.1
33 lung cancer 10.1
34 immune deficiency disease 10.1
35 myeloma, multiple 10.1
36 polycythemia vera 10.1
37 sudden infant death syndrome 10.1
38 leukemia, acute myeloid 10.1
39 cervical cancer 10.1
40 lymphangioleiomyomatosis 10.1
41 patent ductus arteriosus 1 10.1
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
43 cyanosis, transient neonatal 10.1
44 aspergillosis 10.1
45 exanthem 10.1
46 crest syndrome 10.1
47 castleman disease 10.1
48 parotitis 10.1
49 allergic hypersensitivity disease 10.1
50 pancytopenia 10.1

Graphical network of the top 20 diseases related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:



Diseases related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Symptoms & Phenotypes for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Human phenotypes related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 interlobular septal thickening on pulmonary hrct 31 very rare (1%) HP:0030879
2 abnormally loud pulmonic component of the second heart sound 31 very rare (1%) HP:0031687
3 centrilobular ground-glass opacification on pulmonary hrct 31 very rare (1%) HP:0025180
4 pulmonary arterial hypertension 31 HP:0002092
5 elevated jugular venous pressure 31 HP:0030848
6 pulmonary venous occlusion 31 HP:0006518

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
pulmonary arterial hypertension
elevated jugular venous pressure

Cardiovascular Heart:
prominent second heart sound

Respiratory Lung:
occult alveolar hemorrhage
pulmonary veno-occlusive disease seen on biopsy
centrilobular ground glass opacities seen on ct
thickened interlobular septae seen on ct

Clinical features from OMIM:

265450

UMLS symptoms related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:


hemoptysis

GenomeRNAi Phenotypes related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.32 EIF2AK4

MGI Mouse Phenotypes related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 BMPR2 EIF2AK4 HTR2A

Drugs & Therapeutics for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Drugs for Pulmonary Venoocclusive Disease 1, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# 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
Defibrotide Approved, Investigational Phase 2 83712-60-1
4 Protein Kinase Inhibitors 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 Antineoplastic Agents, Immunological Phase 1, Phase 2
9 Fibrinolytic Agents Phase 2
10 Platelet Aggregation Inhibitors Phase 2
11
Nitric Oxide Approved 10102-43-9 145068
12
Carbon monoxide Approved, Investigational 630-08-0 281
13 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 Use of Defibrotide to Reduce Progression of Acute Respiratory Failure Rate in Patients With COVID-19 Pneumonia Not yet recruiting NCT04335201 Phase 2 Defibrotide Injection
3 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
4 Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers Recruiting NCT03902353

Search NIH Clinical Center for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Genetic Tests for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Genetic tests related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 29 BMPR2
2 Pulmonary Venoocclusive Disease 1 29

Anatomical Context for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

40
Lung, Lymph Node, Heart, Bone, Bone Marrow, Endothelial, Smooth Muscle

Publications for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Articles related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

(show top 50) (show all 388)
# Title Authors PMID Year
1
Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. 61 56 6
18626305 2008
2
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 6 56 61
12446270 2003
3
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. 56 6
16429395 2006
4
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 56 6
16429403 2006
5
Familial pulmonary veno-occlusive disease: a case report. 56 61
601742 1977
6
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 6
11115378 2001
7
Intrapulmonary veno-occlusive disease. 56
4682413 1973
8
Serotonin-induced smooth muscle hyperplasia in various forms of human pulmonary hypertension. 54 61
15059929 2004
9
Molecular Profiling of Vascular Remodeling in Chronic Pulmonary Disease. 61
32275906 2020
10
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. 61
32547734 2020
11
Pulmonary capillary haemangiomatosis: a distinct entity? 61
32461209 2020
12
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. 61
32471403 2020
13
Pulmonary veno-occlusive disease: a probably underdiagnosed cause of pulmonary hypertension in systemic sclerosis. 61
31965379 2020
14
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
31501875 2020
15
Case 276: Pulmonary Veno-Occlusive Disease and Pulmonary Capillary Hemangiomatosis Disease. 61
32176598 2020
16
Eating Cheerios on ECMO: The Use of VA ECMO as a Bridge to Lung Transplant in an Infant. 61
32465083 2020
17
Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. 61
32209028 2020
18
Gas Exchange and Ventilatory Efficiency During Exercise in Pulmonary Vascular Diseases. 61
32111418 2020
19
Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension. 61
31202500 2020
20
Pulmonary vein occlusion and veno-occlusive disease in a bilateral lung transplant patient: A case report. 61
32257789 2020
21
Targeted therapy in pulmonary veno-occlusive disease: time for a rethink? 61
31856792 2019
22
Features of radiological and physiological findings in pulmonary capillary hemangiomatosis: an updated pooled analysis of confirmed diagnostic cases. 61
31908771 2019
23
An Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study. 61
31636247 2019
24
Computed tomographic and clinical features of pulmonary veno-occlusive disease: raising the radiologist's awareness. 61
31178067 2019
25
Racial and Ethnic Differences in Pediatric Pulmonary Hypertension: An Analysis of the Pediatric Pulmonary Hypertension Network Registry. 61
31176455 2019
26
[Advances in the study of pulmonary veno-occlusive disease]. 61
31365972 2019
27
A Case of Pulmonary Veno-Occlusive Disease Following Hepatic Veno-Occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma. 61
31335821 2019
28
Understanding the Similarities and Differences between Hepatic and Pulmonary Veno-Occlusive Disease. 61
30926335 2019
29
Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease. 61
30652195 2019
30
Pulmonary Veno-occlusive Disease: A Surgical Lung Biopsy-proven and Autopsied Case Radiologically Mimicking Hypersensitivity Pneumonitis at the Time of a Transbronchial Lung Biopsy. 61
30568112 2019
31
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. 61
31099303 2019
32
Comprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30697960 2019
33
Pulmonary capillary hemangiomatosis diagnosed by pathology of explanted lungs: a unique etiology serves as a key of clinical diagnosis. 61
29804176 2019
34
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. 61
30578383 2019
35
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. 61
30473253 2019
36
Tumoral pulmonary hypertension. 61
30728162 2019
37
Beneficial Effects of Imatinib in a Patient with Suspected Pulmonary Veno-Occlusive Disease. 61
30700638 2019
38
Pulmonary veno-occlusive disease is highly prevalent in scleroderma patients undergoing lung transplantation. 61
30775371 2019
39
Extracorporeal Membrane Oxygenation Support During Pregnancy in Pulmonary Veno-occlusive Disease. 61
29428338 2019
40
Haemodynamic definitions and updated clinical classification of pulmonary hypertension. 61
30545968 2019
41
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30499214 2019
42
Pulmonary Veno-Occlusive Disease: A Rare Cause of Pulmonary Hypertension. 61
31010327 2019
43
The 6th World Symposium on Pulmonary Hypertension: what's old is new. 61
31249672 2019
44
Pathology and pathobiology of pulmonary hypertension: state of the art and research perspectives. 61
30545970 2019
45
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. 61
30679663 2019
46
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. 61
30518401 2018
47
Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation. 61
30285736 2018
48
Respiratory failure in the hematopoietic stem cell transplant recipient. 61
30370228 2018
49
Drug-associated pulmonary arterial hypertension. 61
29508628 2018
50
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. 61
29548663 2018

Variations for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

ClinVar genetic disease variations for Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)SNV Pathogenic 8796 rs137852741 2:203421083-203421083 2:202556360-202556360
2 BMPR2 NM_001204.7(BMPR2):c.44del (p.Pro15fs)deletion Pathogenic 8814 rs483352902 2:203242240-203242240 2:202377517-202377517
3 BMPR2 NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter)SNV Pathogenic 8815 rs137852755 2:203329575-203329575 2:202464852-202464852
4 BMPR2 NM_001204.6(BMPR2):c.77-?_247+?del (p.A26_Q82del)deletion Pathogenic 8816 2:203329532-203329702 2:202464809-202464979
5 BMPR2 NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)SNV Pathogenic 39422 rs397514496 2:203379685-203379685 2:202514962-202514962
6 BMPR2 NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter)SNV Pathogenic 39423 rs397514497 2:203379664-203379664 2:202514941-202514941
7 BMPR2 NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)SNV Pathogenic 409813 rs1060502576 2:203407155-203407155 2:202542432-202542432
8 BMPR2 NM_001204.7(BMPR2):c.1120del (p.Ala373_Ile374insTer)deletion Pathogenic 425875 rs1085307300 2:203395669-203395669 2:202530946-202530946
9 EIF2AK4 NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs)deletion Likely pathogenic 667371 15:40322590-40322590 15:40030389-40030389

Expression for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Search GEO for disease gene expression data for Pulmonary Venoocclusive Disease 1, Autosomal Dominant.

Pathways for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

GO Terms for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Cellular components related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.16 HTR2A BMPR2
2 neuronal cell body GO:0043025 8.96 HTR2A BMPR2
3 caveola GO:0005901 8.62 HTR2A BMPR2

Molecular functions related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 8.62 EIF2AK4 BMPR2

Sources for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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