PVOD1
MCID: PLM170
MIFTS: 43

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 57 73 29 6 71
Pulmonary Venoocclusive Disease 1 57 29 6
Pulmonary Veno-Occlusive Disease 73 71
Pvod1 57 73
Pvod 57 73
Pulmonary Veno-Occlusive Disease, Type 1 39
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®:

57 (Updated 05-Mar-2021)
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® 57 265450
OMIM Phenotypic Series 57 PS265450
MESH via Orphanet 45 D011668
UMLS via Orphanet 72 C0034091
Orphanet 58 ORPHA31837
UMLS 71 C0034091 C3887658

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) (Updated 05-Mar-2021)

MalaCards based summary : Pulmonary Venoocclusive Disease 1, Autosomal Dominant, also known as pulmonary venoocclusive disease 1, 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 Orange and Bevacizumab 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 90)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 31.7 EIF2AK4 BMPR2
2 heritable pulmonary arterial hypertension 29.8 EIF2AK4 BMPR2
3 pulmonary hypertension, primary, 1 29.7 EIF2AK4 BMPR2
4 pulmonary hypertension 29.5 EIF2AK4 BMPR2
5 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 11.6
6 pulmonary venoocclusive disease 2, autosomal recessive 11.0
7 sarcoidosis 1 10.4
8 neuroblastoma 10.3
9 raynaud phenomenon 10.3
10 hepatic veno-occlusive disease 10.2
11 hypertrophic cardiomyopathy 10.2
12 hemosiderosis 10.2
13 telangiectasis 10.2
14 myeloproliferative neoplasm 10.2
15 mixed connective tissue disease 10.2
16 pulmonary fibrosis 10.2
17 hemolytic anemia 10.2
18 congestive heart failure 10.2
19 idiopathic/heritable pulmonary arterial hypertension 10.2
20 lung disease 10.2
21 pfeiffer syndrome 10.1
22 total anomalous pulmonary venous return 1 10.1
23 atrial standstill 1 10.1
24 burkitt lymphoma 10.1
25 felty syndrome 10.1
26 pulmonary hemosiderosis 10.1
27 down syndrome 10.1
28 suppressor of tumorigenicity 3 10.1
29 myeloma, multiple 10.1
30 polycythemia vera 10.1
31 sudden infant death syndrome 10.1
32 leukemia, acute myeloid 10.1
33 cervical cancer 10.1
34 lymphangioleiomyomatosis 10.1
35 patent ductus arteriosus 1 10.1
36 cyanosis, transient neonatal 10.1
37 aspergillosis 10.1
38 exanthem 10.1
39 crest syndrome 10.1
40 thrombosis 10.1
41 polymyositis 10.1
42 castleman disease 10.1
43 parotitis 10.1
44 heart disease 10.1
45 allergic disease 10.1
46 pancytopenia 10.1
47 hemolytic-uremic syndrome 10.1
48 anus cancer 10.1
49 alcohol use disorder 10.1
50 limited scleroderma 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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 8)
# 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 Antineoplastic Agents, Immunological Phase 1, Phase 2
4 Angiogenesis Inhibitors Phase 1, Phase 2
5 Anti-Bacterial Agents Phase 1, Phase 2
6 Protein Kinase Inhibitors Phase 1, Phase 2
7 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
8 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

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, Kidney, Endothelial

Publications for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Articles related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

(show top 50) (show all 244)
# Title Authors PMID Year
1
Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. 61 6 57
18626305 2008
2
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 6 57 61
12446270 2003
3
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. 6 57
16429395 2006
4
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 6 57
16429403 2006
5
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 6
11115378 2001
6
Familial pulmonary veno-occlusive disease: a case report. 57
601742 1977
7
Intrapulmonary veno-occlusive disease. 57
4682413 1973
8
Olfactory Training for Postviral Olfactory Dysfunction: Systematic Review and Meta-analysis. 61
32660334 2021
9
Dyspnoea and diffuse pulmonary nodules in a patient with pulmonary veno-occlusive disease: a case report and literature review. 61
33478317 2021
10
Mitomycin C induces pulmonary vascular endothelial-to-mesenchymal transition and pulmonary veno-occlusive disease via Smad3-dependent pathway in rats. 61
33140842 2021
11
Identification of Viruses in Patients With Postviral Olfactory Dysfunction by Multiplex Reverse-Transcription Polymerase Chain Reaction. 61
32786080 2021
12
Computed tomography appearances of the lung parenchyma in pulmonary hypertension. 61
32915646 2021
13
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties. 61
33477983 2021
14
[Familial pulmonary veno-occlusive disease with a composite biallelic heterozygous EIF2AK4 mutation]. 61
33071063 2020
15
Relationship between cognitive impairment and olfactory function among older adults with olfactory impairment. 61
33293191 2020
16
Is SARS-CoV-2 (COVID-19) postviral olfactory dysfunction (PVOD) different from other PVOD? 61
32837756 2020
17
A Case of Pulmonary Veno-occlusive Disease Following Hepatic Veno-occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma. 61
31335821 2020
18
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients. 61
33066286 2020
19
Pulmonary vasodilators can lead to various complications in pulmonary "arterial" hypertension associated with congenital heart disease. 61
32285188 2020
20
Characteristics and Long-Term Outcomes of Pulmonary Venoocclusive Disease Induced by Mitomycin C. 61
32979348 2020
21
Pulmonary capillary hemangiomatosis in Chinese patients without EIF2AK4 mutations. 61
32825965 2020
22
Gas Exchange and Ventilatory Efficiency During Exercise in Pulmonary Vascular Diseases. 61
32111418 2020
23
Treatment of post-viral olfactory dysfunction: an evidence-based review with recommendations. 61
32567798 2020
24
Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. 61
32209028 2020
25
Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report. 61
32631303 2020
26
Anesthesia for pulmonary veno-occlusive disease: the dilemma and what we should know as anesthesiologists: A case report. 61
32791767 2020
27
Anti-synthetase syndrome-associated pulmonary veno-occlusive disease. 61
32655855 2020
28
Two patients with mixed connective tissue disease complicated by pulmonary arterial hypertension showing contrasting responses to pulmonary vasodilators. 61
33087021 2020
29
Molecular Profiling of Vascular Remodeling in Chronic Pulmonary Disease. 61
32275906 2020
30
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. 61
32547734 2020
31
Olfactory dysfunction from acute upper respiratory infections: relationship to season of onset. 61
32282136 2020
32
Pulmonary capillary haemangiomatosis: a distinct entity? 61
32461209 2020
33
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. 61
32471403 2020
34
Pulmonary veno-occlusive disease: a probably underdiagnosed cause of pulmonary hypertension in systemic sclerosis. 61
31965379 2020
35
Venoocclusive Disease With Both Hepatic and Pulmonary Involvement. 61
32252933 2020
36
Older patients with anomalous origin of the pulmonary artery from the ascending aorta: Guidance via lung biopsy. 61
31692091 2020
37
Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension. 61
31202500 2020
38
Pulmonary vein occlusion and veno-occlusive disease in a bilateral lung transplant patient: A case report. 61
32257789 2020
39
Targeted therapy in pulmonary veno-occlusive disease: time for a rethink? 61
31856792 2019
40
Changes in unfrozen water content and dielectric properties during pulse vacuum osmotic dehydration to improve microwave freeze-drying characteristics of Chinese yam. 61
31325328 2019
41
Features of radiological and physiological findings in pulmonary capillary hemangiomatosis: an updated pooled analysis of confirmed diagnostic cases. 61
31908771 2019
42
An Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study. 61
31636247 2019
43
Computed tomographic and clinical features of pulmonary veno-occlusive disease: raising the radiologist's awareness. 61
31178067 2019
44
The updated classification of PVOD/PCH: A slight but meaningful change. 61
31103397 2019
45
Comparison of pulsed vacuum and ultrasound osmotic dehydration on drying of Chinese ginger (Zingiber officinale Roscoe): Drying characteristics, antioxidant capacity, and volatile profiles. 61
31428341 2019
46
Understanding the Similarities and Differences between Hepatic and Pulmonary Veno-Occlusive Disease. 61
30926335 2019
47
Characteristics of Smell Identification Test in Patients With Parkinson Disease. 61
30586953 2019
48
[Advances in etiology and pathogenic mechanisms of postviral olfactory dysfunction]. 61
31163565 2019
49
Comprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30697960 2019
50
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

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.1120del (p.Ala373_Ile374insTer) Deletion Pathogenic 425875 rs1085307300 2:203395669-203395669 2:202530946-202530946
2 BMPR2 NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) SNV Pathogenic 409813 rs1060502576 2:203407155-203407155 2:202542432-202542432
3 BMPR2 NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter) SNV Pathogenic 8815 rs137852755 2:203329575-203329575 2:202464852-202464852
4 BMPR2 NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr) SNV Pathogenic 39422 rs397514496 2:203379685-203379685 2:202514962-202514962
5 BMPR2 NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter) SNV Pathogenic 39423 rs397514497 2:203379664-203379664 2:202514941-202514941
6 BMPR2 NM_001204.7(BMPR2):c.44del (p.Pro15fs) Deletion Pathogenic 8814 rs483352902 2:203242240-203242240 2:202377517-202377517
7 BMPR2 NM_001204.6(BMPR2):c.77-?_247+?del (p.A26_Q82del) Deletion Pathogenic 8816 2:203329532-203329702 2:202464809-202464979
8 BMPR2 NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) SNV Pathogenic 8796 rs137852741 2:203421083-203421083 2:202556360-202556360
9 EIF2AK4 NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs) Deletion Likely pathogenic 667371 rs1327297003 15:40322590-40322590 15:40030389-40030389
10 BMPR2 NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) SNV Uncertain significance 425955 rs370457339 2:203417541-203417541 2:202552818-202552818

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

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 8.96 EIF2AK4 BMPR2
2 protein phosphorylation GO:0006468 8.62 EIF2AK4 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 kinase activity GO:0016301 9.16 EIF2AK4 BMPR2
2 protein kinase activity GO:0004672 8.96 EIF2AK4 BMPR2
3 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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