MCID: PLM170
MIFTS: 33

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Categories: Genetic diseases, Respiratory diseases, Rare diseases, Cardiovascular 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
UMLS 73 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)

MalaCards based summary : Pulmonary Venoocclusive Disease 1, Autosomal Dominant, also known as pulmonary venoocclusive disease 1, is related to pulmonary venoocclusive disease and pulmonary venoocclusive disease 2, autosomal recessive, 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, lymph node and heart, and related phenotypes are pulmonary arterial hypertension and elevated jugular venous pressure

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:

# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 30.8 BMPR2 EIF2AK4
2 pulmonary venoocclusive disease 2, autosomal recessive 11.0
3 heritable pulmonary arterial hypertension 9.3 BMPR2 EIF2AK4
4 pulmonary hypertension 9.0 BMPR2 EIF2AK4

Symptoms & Phenotypes for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
prominent second heart sound

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

Cardiovascular Vascular:
elevated jugular venous pressure
pulmonary arterial hypertension


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 EIF2AK4 BMPR2

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, Lymph Node, Heart, Bone, Bone Marrow, Endothelial, Myeloid

Publications for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Articles related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant:

(show all 29)
# Title Authors Year
1
Pulmonary Hypertension Associated with Pulmonary Veno-occlusive Disease in Patients with Polycythemia Vera. ( 28824072 )
2017
2
Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. ( 28087362 )
2017
3
Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )
2016
4
Favorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis. ( 27045880 )
2016
5
EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature. ( 27684876 )
2016
6
Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease. ( 26541523 )
2015
7
Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations. ( 25142489 )
2014
8
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. ( 24292273 )
2014
9
ERG-APLNR axis controls pulmonary venule endothelial proliferation in pulmonary veno-occlusive disease. ( 25062690 )
2014
10
Different sizes of centrilobular ground-glass opacities in chest high-resolution computed tomography of patients with pulmonary veno-occlusive disease and patients with pulmonary capillary hemangiomatosis. ( 23312620 )
2013
11
Cytotoxic cells and granulysin in pulmonary arterial hypertension and pulmonary veno-occlusive disease. ( 23220918 )
2013
12
Hypoplastic left heart syndrome and pulmonary veno-occlusive disease in an infant. ( 22961346 )
2013
13
Pulmonary veno-occlusive disease following reduced-intensity allogeneic bone marrow transplantation for acute myeloid leukemia. ( 22246490 )
2012
14
Safety and efficacy of epoprostenol therapy in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 22481098 )
2012
15
Platelet-derived growth factor receptor-I^ and epidermal growth factor receptor in pulmonary vasculature of systemic sclerosis-associated pulmonary arterial hypertension versus idiopathic pulmonary arterial hypertension and pulmonary veno-occlusive disease: a case-control study. ( 21492463 )
2011
16
Long-term remission of pulmonary veno-occlusive disease associated with primary SjAPgren's syndrome following immunosuppressive therapy. ( 21394665 )
2011
17
Fatal pulmonary veno-occlusive disease after chemotherapy for Burkitt's lymphoma. ( 21696511 )
2011
18
Granulomatous angiitis leading to a pulmonary veno-occlusive disease-like picture. ( 19251802 )
2009
19
Pulmonary veno-occlusive disease in myeloproliferative disorder. ( 19118232 )
2009
20
Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease. ( 17520258 )
2007
21
From the Archives of the AFIP: pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 17495297 )
2007
22
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: a clinicopathologic study of 35 cases. ( 16819327 )
2006
23
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. ( 12446270 )
2003
24
Pulmonary veno-occlusive disease after neoadjuvant mitomycin chemotherapy and surgery for lung carcinoma. ( 11955658 )
2002
25
Venous and arterial changes in pulmonary veno-occlusive disease, mitral stenosis and fibrosing mediastinitis. ( 10678631 )
2000
26
Pulmonary veno-occlusive disease complicating Felty's syndrome. ( 9893784 )
1998
27
Death due to diffuse alveolar hemorrhage in a child with pulmonary veno-occlusive disease. ( 1935313 )
1991
28
Pulmonary veno-occlusive disease in siblings: case reports and morphometric study. ( 7129408 )
1982
29
Pulmonary veno-occlusive disease associated with pulmonary phlebitis. ( 4682032 )
1973

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

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 BMPR2 EIF2AK4
2 protein phosphorylation GO:0006468 8.62 BMPR2 EIF2AK4

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 BMPR2 EIF2AK4
2 protein kinase activity GO:0004672 8.96 BMPR2 EIF2AK4
3 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....