Pulmonary Venoocclusive Disease 1, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLM170 MIFTS: 33	Pulmonary Venoocclusive Disease 1, Autosomal Dominant Categories: Genetic diseases, Respiratory diseases, Rare diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare respiratory diseases

External Ids:

OMIM ⁵⁷ 265450

Orphanet ⁵⁹ ORPHA31837

MESH via Orphanet ⁴⁵ D011668

UMLS via Orphanet ⁷⁴ C0034091

MedGen ⁴² C3887658 C0034091

MeSH ⁴⁴ D006976 D011668

SNOMED-CT via HPO ⁶⁹ 263681008 11399002 697898008 more

UMLS ⁷³ C3887658

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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.

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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

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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 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

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Drugs & Therapeutics for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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

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Genetic Tests for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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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

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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 )	Tachibana T....Nakajima H.	2017
2	Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. ( 28087362 )	Montani D....Humbert M.	2017
3	Reactive Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-Occlusive Disease in a Patient with Repaired Scimitar Syndrome. ( 27069695 )	GA1ttinger E....Huber L.C.	2016
4	Favorable response to an endothelin receptor antagonist in mitomycin-induced pulmonary veno-occlusive disease with pulmonary capillary hemangiomatosis. ( 27045880 )	Koyama M....Miura T.	2016
5	EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature. ( 27684876 )	Liang L....Zhang R.	2016
6	Occupational exposure to organic solvents: a risk factor for pulmonary veno-occlusive disease. ( 26541523 )	Montani D....Humbert M.	2015
7	Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations. ( 25142489 )	Laveneziana P....Garcia G.	2014
8	EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. ( 24292273 )	Eyries M....Soubrier F.	2014
9	ERG-APLNR axis controls pulmonary venule endothelial proliferation in pulmonary veno-occlusive disease. ( 25062690 )	Lathen C....Thistlethwaite P.A.	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 )	Miura A....Ito H.	2013
11	Cytotoxic cells and granulysin in pulmonary arterial hypertension and pulmonary veno-occlusive disease. ( 23220918 )	Perros F....Montani D.	2013
12	Hypoplastic left heart syndrome and pulmonary veno-occlusive disease in an infant. ( 22961346 )	D'Souza M....Jayakumar K.A.	2013
13	Pulmonary veno-occlusive disease following reduced-intensity allogeneic bone marrow transplantation for acute myeloid leukemia. ( 22246490 )	Hosokawa K....Nakao S.	2012
14	Safety and efficacy of epoprostenol therapy in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 22481098 )	Ogawa A....Matsubara H.	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 )	Overbeek M.J....GrA1nberg K.	2011
16	Long-term remission of pulmonary veno-occlusive disease associated with primary SjAPgren's syndrome following immunosuppressive therapy. ( 21394665 )	Naniwa T....Takeda Y.	2011
17	Fatal pulmonary veno-occlusive disease after chemotherapy for Burkitt's lymphoma. ( 21696511 )	Miyata D....Matsui A.	2011
18	Granulomatous angiitis leading to a pulmonary veno-occlusive disease-like picture. ( 19251802 )	Dwyer N....Kilpatrick D.	2009
19	Pulmonary veno-occlusive disease in myeloproliferative disorder. ( 19118232 )	Willems E....Beguin Y.	2009
20	Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease. ( 17520258 )	Zhang L....Aubry M.C.	2007
21	From the Archives of the AFIP: pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. ( 17495297 )	Frazier A.A....Galvin J.R.	2007
22	Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: a clinicopathologic study of 35 cases. ( 16819327 )	LantuAcjoul S....Nicholson A.G.	2006
23	Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. ( 12446270 )	Runo J.R....Phillips J.A. III	2003
24	Pulmonary veno-occlusive disease after neoadjuvant mitomycin chemotherapy and surgery for lung carcinoma. ( 11955658 )	Gagnadoux F....Lebeau B.	2002
25	Venous and arterial changes in pulmonary veno-occlusive disease, mitral stenosis and fibrosing mediastinitis. ( 10678631 )	Chazova I....Meyrick B.	2000
26	Pulmonary veno-occlusive disease complicating Felty's syndrome. ( 9893784 )	Devereux G....Legge J.S.	1998
27	Death due to diffuse alveolar hemorrhage in a child with pulmonary veno-occlusive disease. ( 1935313 )	Cohn R.C....Komer M.	1991
28	Pulmonary veno-occlusive disease in siblings: case reports and morphometric study. ( 7129408 )	Davies P....Reid L.	1982
29	Pulmonary veno-occlusive disease associated with pulmonary phlebitis. ( 4682032 )	Braun A....Jenkins D.E.	1973

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Genes for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Genes related to Pulmonary Venoocclusive Disease 1, Autosomal Dominant (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	943.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Candidate gene tested ⁵⁹ GeneCards inferred via : Disorders (show sections)
2	EIF2AK4	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹

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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

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Expression for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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

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Pathways for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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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

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Sources for Pulmonary Venoocclusive Disease 1, Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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²⁰ GeneAnalytics

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia