PVOD1
MCID: PLM170
MIFTS: 44

Pulmonary Venoocclusive Disease 1, Autosomal Dominant (PVOD1)

Categories: 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 57 75 73
Pulmonary Venoocclusive Disease 1 57 6
Pulmonary Veno-Occlusive Disease 75 73
Pvod1 57 75
Pvod 57 75
Pulmonary Venoocclusive Disease 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable clinical presentation


HPO:

32
pulmonary venoocclusive disease 1, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 265450
Orphanet 59 ORPHA31837
MESH via Orphanet 45 D011668
UMLS via Orphanet 74 C0034091

Summaries for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

OMIM : 57 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 venoocclusive disease 1, is related to pulmonary venoocclusive disease and pulmonary 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). Affiliated tissues include lung, heart and lymph node, and related phenotypes are pulmonary arterial hypertension and elevated jugular venous pressure

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.

UniProtKB/Swiss-Prot : 75 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 all 41)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 31.8 BMPR2 EIF2AK4
2 pulmonary hypertension 29.6 BMPR2 EIF2AK4
3 pulmonary venoocclusive disease 2, autosomal recessive 11.1
4 pulmonary hypertension, primary, 1 10.5
5 scleroderma, familial progressive 10.4
6 lymphoma 10.3
7 hemolytic anemia 10.2
8 thrombosis 10.2
9 connective tissue disease 10.2
10 lung disease 10.2
11 hypertrophic cardiomyopathy 10.2
12 total anomalous pulmonary venous return 1 10.0
13 down syndrome 10.0
14 lung cancer 10.0
15 hypoplastic left heart syndrome 1 10.0
16 myeloma, multiple 10.0
17 neuroblastoma 10.0
18 polycythemia vera 10.0
19 leukemia, acute myeloid 10.0
20 cervical cancer 10.0
21 leukemia, acute lymphoblastic 10.0
22 hematopoietic stem cell transplantation 10.0
23 hypoplastic left heart syndrome 10.0
24 leukemia 10.0
25 lymphocytic leukemia 10.0
26 pulmonary edema 10.0
27 granulomatous angiitis 10.0
28 adenocarcinoma 10.0
29 mixed connective tissue disease 10.0
30 gastric adenocarcinoma 10.0
31 thyroiditis 10.0
32 mediastinitis 10.0
33 polycythemia 10.0
34 myeloid leukemia 10.0
35 viral infectious disease 10.0
36 sickle cell disease 10.0
37 fibrosing mediastinitis 10.0
38 diffuse alveolar hemorrhage 10.0
39 systemic lupus erythematosus 10.0
40 lupus erythematosus 10.0
41 heritable pulmonary arterial hypertension 9.7 BMPR2 EIF2AK4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 32 HP:0002092
2 elevated jugular venous pressure 32 HP:0030848
3 pulmonary venous occlusion 32 HP:0006518

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 8.62 BMPR2 EIF2AK4

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

46
# 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

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

Genetic Tests for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Anatomical Context for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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

41
Lung, Heart, Lymph Node, Bone, Bone Marrow, Myeloid, Thyroid

Publications for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Articles related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

(show top 50) (show all 206)
# Title Authors Year
1
Pulmonary tumor thrombotic microangiopathy and pulmonary veno-occlusive disease in a woman with cervical cancer treated with cediranib and durvalumab. ( 29996818 )
2018
2
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. ( 30518401 )
2018
3
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival. ( 28697925 )
2018
4
Pulmonary veno-occlusive disease in a pediatric hematopoietic stem cell transplant patient: a cautionary tale. ( 28958195 )
2018
5
Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease. ( 29108819 )
2018
6
Extracorporeal Membrane Oxygenation Support During Pregnancy in Pulmonary Veno-occlusive Disease. ( 29428338 )
2018
7
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. ( 29548663 )
2018
8
Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm - state of the art. ( 29960280 )
2018
9
Lung transplantation as a viable option of treatment for pulmonary veno-occlusive disease. ( 30378654 )
2018
10
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. ( 30473253 )
2018
11
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 30499214 )
2018
12
Pulmonary Hypertension Associated with Pulmonary Veno-occlusive Disease in Patients with Polycythemia Vera. ( 28824072 )
2017
13
Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. ( 28087362 )
2017
14
Rapidly progressive pulmonary veno-occlusive disease in an infant with Down syndrome. ( 28782495 )
2017
15
Pulmonary veno-occlusive disease as an occupational lung disease. ( 28463181 )
2017
16
Pulmonary veno-occlusive disease: An important consideration in patients with pulmonary hypertension. ( 29229098 )
2017
17
Prognostic significance of computed tomography criteria for pulmonary veno-occlusive disease in systemic sclerosis-pulmonary arterial hypertension. ( 29029203 )
2017
18
The First Experience of Pulmonary Veno-occlusive Disease Treatment With Macitentan and Sildenafil. ( 27840150 )
2017
19
Pulmonary hypertension secondary to pulmonary veno-occlusive disease complicated by right heart failure, hypotension and acute kidney injury. ( 27872804 )
2017
20
Pulmonary veno-occlusive disease: Two children with gradual disease progression. ( 28070482 )
2017
21
Pulmonary veno-occlusive disease: characterising a rare but important disease. ( 28087361 )
2017
22
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 28118962 )
2017
23
Myocardial injury in severe heritable pulmonary veno-occlusive disease. ( 28320632 )
2017
24
Sudden Death in a Patient with Pulmonary Veno-occlusive Disease (PVOD) and Severe Pulmonary Hypertension. ( 28768975 )
2017
25
Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 28947033 )
2017
26
Lung transplantation for mitomycin-induced pulmonary veno-occlusive disease. ( 29129416 )
2017
27
Pulmonary Veno-Occlusive Disease: Welcome to the PAHty (Bostonian for Party). ( 29158214 )
2017
28
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
29
Favorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis. ( 27045880 )
2016
30
EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature. ( 27684876 )
2016
31
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
32
Pulmonary Veno-Occlusive Disease: A Newly Recognized Cause of Severe Pulmonary Hypertension in Dogs. ( 26926086 )
2016
33
Pulmonary veno-occlusive disease. ( 27009171 )
2016
34
Letter by Belge et al Regarding Article, "Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models". ( 27045135 )
2016
35
Response to Letter Regarding Article, "Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Model". ( 27045136 )
2016
36
Scintigraphy Leading to the Misdiagnosis of Chronic Thromboembolic Disease in a Patient With Pulmonary Veno-Occlusive Disease. ( 27142608 )
2016
37
Pulmonary Veno-occlusive Disease and Pulmonary Hypertension in Dogs: Striking Similarities to the Human Condition. ( 27298303 )
2016
38
Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease. ( 27514598 )
2016
39
Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease. ( 26541523 )
2015
40
Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension. ( 25528660 )
2015
41
Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models. ( 26130118 )
2015
42
Pulmonary veno-occlusive disease as a cause of pulmonary arterial hypertension. ( 26130886 )
2015
43
Letter by Papangeli et al Regarding Article, "The ERG-APLNR Axis Controls Pulmonary Venule Endothelial Proliferation in Pulmonary Veno-Occlusive Disease". ( 26169651 )
2015
44
Response to Letter Regarding Article, "The ERG-APLNR Axis Controls Pulmonary Venule Endothelial Proliferation in Pulmonary Veno-Occlusive Disease". ( 26169652 )
2015
45
Gemcitabine-Induced Pulmonary Toxicity: A Case Report of Pulmonary Veno-Occlusive Disease. ( 26380562 )
2015
46
Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension in systemic sclerosis. Case presentation and review of the literature . ( 26402988 )
2015
47
Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations. ( 25142489 )
2014
48
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. ( 24292273 )
2014
49
ERG-APLNR axis controls pulmonary venule endothelial proliferation in pulmonary veno-occlusive disease. ( 25062690 )
2014
50
Pulmonary veno-occlusive disease in a female gardener. ( 23886653 )
2014

Variations for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
2 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh38 Chromosome 2, 202377518: 202377518
3 BMPR2 NM_001204.6(BMPR2): c.120T> G (p.Tyr40Ter) single nucleotide variant Pathogenic rs137852755 GRCh37 Chromosome 2, 203329575: 203329575
4 BMPR2 NM_001204.6(BMPR2): c.120T> G (p.Tyr40Ter) single nucleotide variant Pathogenic rs137852755 GRCh38 Chromosome 2, 202464852: 202464852
5 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
6 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh38 Chromosome 2, 202464809: 202464979
7 BMPR2 NM_001204.6(BMPR2): c.604A> T (p.Asn202Tyr) single nucleotide variant Pathogenic rs397514496 GRCh37 Chromosome 2, 203379685: 203379685
8 BMPR2 NM_001204.6(BMPR2): c.604A> T (p.Asn202Tyr) single nucleotide variant Pathogenic rs397514496 GRCh38 Chromosome 2, 202514962: 202514962
9 BMPR2 NM_001204.6(BMPR2): c.583G> T (p.Glu195Ter) single nucleotide variant Pathogenic rs397514497 GRCh37 Chromosome 2, 203379664: 203379664
10 BMPR2 NM_001204.6(BMPR2): c.583G> T (p.Glu195Ter) single nucleotide variant Pathogenic rs397514497 GRCh38 Chromosome 2, 202514941: 202514941
11 BMPR2 NM_001204.6(BMPR2): c.1120delA (p.I374*) deletion Pathogenic rs1085307300 GRCh37 Chromosome 2, 203395669: 203395669
12 BMPR2 NM_001204.6(BMPR2): c.1120delA (p.I374*) deletion Pathogenic rs1085307300 GRCh38 Chromosome 2, 202530946: 202530946

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 BMPR2 HTR2A
2 neuronal cell body GO:0043025 8.96 BMPR2 HTR2A
3 caveola GO:0005901 8.62 BMPR2 HTR2A

Biological processes related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.62 EIF2AK4 HTR2A

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 BMPR2 EIF2AK4

Sources for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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
Content
Loading form....