PAVM
MCID: PLM052
MIFTS: 45

Pulmonary Arteriovenous Malformation (PAVM) malady

Rare diseases category

Summaries for Pulmonary Arteriovenous Malformation

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34MalaCards
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MalaCards: Pulmonary Arteriovenous Malformation, also known as arteriovenous fistula of pulmonary vessels, is related to arteriovenous malformation and hereditary hemorrhagic telangiectasia. An important gene associated with Pulmonary Arteriovenous Malformation is ACVRL1 (activin A receptor type II-like 1), and among its related pathways are TGF-beta Receptor Signaling Pathway and TGF-beta Signaling Pathway. The compounds deta nonoate and cobalt chloride have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and liver, and related mouse phenotypes are respiratory system and hematopoietic system.

Aliases & Classifications for Pulmonary Arteriovenous Malformation

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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

pulmonary arteriovenous malformation 44
arteriovenous fistula of pulmonary vessels 63
arteriovenous malformation, pulmonary 44
pulmonary arteriovenous fistula 44
pulmonary avm 44
pavm 44


Related Diseases for Pulmonary Arteriovenous Malformation

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pulmonary Arteriovenous Malformation:



Diseases related to pulmonary arteriovenous malformation

Symptoms for Pulmonary Arteriovenous Malformation

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Drugs & Therapeutics for Pulmonary Arteriovenous Malformation

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Pulmonary Arteriovenous Malformation

Drug clinical trials:

Search ClinicalTrials for Pulmonary Arteriovenous Malformation

Search NIH Clinical Center for Pulmonary Arteriovenous Malformation

Search CenterWatch for Pulmonary Arteriovenous Malformation

Genetic Tests for Pulmonary Arteriovenous Malformation

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Anatomical Context for Pulmonary Arteriovenous Malformation

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34MalaCards
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MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

34
Brain, Lung, Liver, Bone, Heart, Testes

Animal Models for Pulmonary Arteriovenous Malformation or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pulmonary Arteriovenous Malformation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6ENG, HMOX1, ACVRL1, HIF1A
2MP:00053978.5ENG, HMOX1, ACVRL1, HIF1A
3MP:00053708.2HIF1A, ACVRL1, ALB, HMOX1
4MP:00053858.2HIF1A, ACVRL1, HMOX1, ENG
5MP:00028738.2ENG, ALB, ACVRL1, HIF1A
6MP:00053697.8ENG, HMOX1, ALB, ACVRL1, HIF1A
7MP:00053767.7HIF1A, ACVRL1, ALB, HMOX1, ENG
8MP:00107687.5HIF1A, ACVRL1, ALB, HMOX1, ENG

Publications for Pulmonary Arteriovenous Malformation

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53PubMed
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Articles related to Pulmonary Arteriovenous Malformation:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
Transseptal guidewire stabilization for device closure of a large pulmonary arteriovenous malformation. (22806247)
2013
2
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
3
Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. (23707042)
2013
4
Elevated circulating microRNA-210 levels in patients with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: a potential new biomarker. (23051042)
2013
5
Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients. (24436569)
2013
6
Unique case of acquired pulmonary arteriovenous malformation developed by calcific constrictive pericarditis. (23417942)
2013
7
Successful lung transplantation in a case with diffuse pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. (24165284)
2013
8
Anomalous lobar pulmonary vein resembling pulmonary arteriovenous malformation. (22314583)
2012
9
Early-stage lung cancer mimicking pulmonary arteriovenous malformation. (21642261)
2011
10
Multiple pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia complicated by embolic strokes. (21555646)
2011
11
Pulmonary arteriovenous malformation in Osler-Weber-Rendu syndrome. (22100937)
2011
12
Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. (20202952)
2010
13
Late onset of hypoxemia due to a pulmonary arteriovenous malformation during selective estrogen receptor modulator therapy. (20117453)
2010
14
Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation. (21510465)
2010
15
Outpatient single-session pulmonary arteriovenous malformation embolization. (19683942)
2009
16
Transoesophageal echocardiographic diagnosis of pulmonary arteriovenous malformation in a patient with ischaemic stroke. (18723848)
2009
17
Covered stent to treat pulmonary arteriovenous malformation with short feeding artery. (19406669)
2009
18
Central large pulmonary arteriovenous malformation with aneurysmal dilatation. (19795336)
2009
19
Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. (19118276)
2009
20
Embolization for pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia: a decision analysis. (19376841)
2009
21
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. (18156574)
2008
22
Pulmonary varix mimicking pulmonary arteriovenous malformation in a patient with Turner syndrome. (16043959)
2007
23
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: an echocardiographic perspective. (16455431)
2006
24
Pulmonary arteriovenous malformation causing massive haemoptysis and complicated by coronary air embolism. (16494154)
2006
25
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. (15943874)
2005
26
A 33-year-old male with a chest lesion on a routine chest radiograph. Pulmonary arteriovenous malformation (PAVM). (16438466)
2005
27
Large pulmonary arteriovenous malformation with hyperammonemia. (15552975)
2004
28
Transpleural ultrasound diagnosis of a pulmonary arteriovenous malformation. (15238412)
2004
29
Visualization of pulmonary arteriovenous malformation by three dimensional computed tomography: a case report. (14768481)
2003
30
Telangiectatic pulmonary arteriovenous malformation. (12700489)
2003
31
Osteomyelitis mimicking a primary bone tumor in a patient with pulmonary arteriovenous malformation and Osler-Weber-Rendu disease. (15290578)
2002
32
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
33
Pulmonary arteriovenous malformation in patients with total cavopulmonary shunt: what role does lack of hepatic venous blood flow to the lungs play? (11455406)
2001
34
A 48-yr-old female with headache and dyspnoea. Pulmonary arteriovenous malformation. (11491181)
2001
35
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
36
Diffuse pulmonary arteriovenous malformation: unusual cause of cyanosis in infancy. (17322714)
2000
37
Closure of a large pulmonary arteriovenous malformation using multiple Gianturco-Grifka vascular occlusion devices. (10751771)
2000
38
Pulmonary arteriovenous malformation. (10421627)
1999
39
Resection of a solitary pulmonary arteriovenous malformation by video-assisted thoracic surgery. (9806398)
1998
40
Massive hemoptysis in a child due to pulmonary arteriovenous malformation. (9258781)
1997
41
Pulmonary arteriovenous malformation: evaluation by MR angiography. (9057556)
1997
42
Unusual complications after embolization of a pulmonary arteriovenous malformation. (8625700)
1996
43
Pulmonary arteriovenous malformation with rare neurological manifestations. (2804504)
1989
44
Cyanosis due to pulmonary arteriovenous malformation. (3051975)
1988
45
Systemic supply to a pulmonary arteriovenous malformation: a relative contraindication to surgery. (3875988)
1985
46
Pulmonary arteriovenous malformation: an uncommon cause for cyanosis in the newborn. (6646888)
1983
47
Pitfall in the CT diagnosis of pulmonary arteriovenous malformation. (6863675)
1983
48
Orthocyanosis: a sign of pulmonary arteriovenous malformation. (7170687)
1982
49
Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation. (7372073)
1980
50
Pulmonary arteriovenous malformation: scintigraphic demonstration and analysis. (1113164)
1975

Variations for Pulmonary Arteriovenous Malformation

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Expression for genes affiliated with Pulmonary Arteriovenous Malformation

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pulmonary Arteriovenous Malformation

Search GEO for disease gene expression data for Pulmonary Arteriovenous Malformation.

Pathways for genes affiliated with Pulmonary Arteriovenous Malformation

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51PathCards, 39NCBI BioSystems Database, 58SinoBiological, 55R&D Systems, 31KEGG, 5Cell Signaling Technology
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Pathways related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ENG, ACVRL1
29.6ENG, ACVRL1
39.6ACVRL1, ENG
49.3HMOX1, HIF1A
58.9ENG, HMOX1, HIF1A
68.9ENG, HMOX1, HIF1A

Compounds for genes affiliated with Pulmonary Arteriovenous Malformation

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46Novoseek, 62Tocris Bioscience, 12DrugBank, 30IUPHAR, 25HMDB, 52PharmGKB
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Compounds related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1deta nonoate469.8HMOX1, HIF1A
2cobalt chloride469.8HMOX1, HIF1A
3trolox469.8HIF1A, HMOX1
4s-nitroso-n-acetylpenicillamine469.7HIF1A, HMOX1
5gsno469.7HIF1A, HMOX1
6ns 39846 6210.7HMOX1, HIF1A
7deferoxamine46 1210.7HMOX1, HIF1A
8rotenone469.7HIF1A, HMOX1
9leptomycin b46 6210.7HMOX1, HIF1A
102-deoxyglucose46 1210.7HIF1A, HMOX1
11manganese superoxide469.7HMOX1, HIF1A
12pdtc469.7HIF1A, HMOX1
13lactacystin469.6HIF1A, HMOX1
14sp 60012546 6210.6HMOX1, HIF1A
15sodium nitroprusside469.6HIF1A, HMOX1
16auranofin30 46 62 1212.6HMOX1, ALB
17Bilirubin259.6ALB, HMOX1
18resveratrol46 62 25 1212.6HIF1A, HMOX1
19isoflurane52 46 1211.6ALB, HMOX1
20propofol46 52 1211.5ALB, HMOX1
21tgf beta1469.5ENG, ACVRL1
22salicylic acid46 3010.5HMOX1, ALB
23egcg469.5HIF1A, HMOX1
24polyethylene glycol469.5HMOX1, ALB
25candesartan46 52 30 1212.5ALB, HIF1A
26alpha tocopherol469.4HMOX1, ALB
27halothane46 52 30 1212.4ALB, HIF1A
28dihydrotestosterone46 30 25 1212.4HIF1A, ENG
29mg 13246 6210.4HIF1A, HMOX1
30celecoxib46 62 30 52 25 1214.4ALB, HIF1A
31irinotecan46 52 1211.4ALB, HIF1A
32rosiglitazone30 46 52 25 1213.3HMOX1, ALB
33oligonucleotide469.3HIF1A, ACVRL1, ENG
34doxorubicin46 52 1211.3ENG, HMOX1, HIF1A
35mannitol46 1210.3ALB, HIF1A
36citrate469.2HMOX1, ALB
37threonine469.2ENG, ACVRL1, HIF1A
38hyaluronic acid46 2510.2ENG, ALB
39dexamethasone46 52 30 1212.2ENG, HMOX1, HIF1A
40quercetin46 62 25 1212.0HMOX1, HIF1A
41histamine46 30 2510.9HMOX1, ALB, HIF1A
42vegf468.9HIF1A, ACVRL1, HMOX1, ENG
43iron46 259.9HMOX1, ALB, HIF1A
44lactate468.9HMOX1, ALB, HIF1A
45alanine468.7HMOX1, ALB, HIF1A
46ascorbic acid46 259.5ENG, HMOX1, ALB, HIF1A
47cysteine468.5ENG, HMOX1, ALB, HIF1A

GO Terms for genes affiliated with Pulmonary Arteriovenous Malformation

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17Gene Ontology
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Biological processes related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of BMP signaling pathwayGO:0305139.9ENG, ACVRL1
2positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.9ACVRL1, ENG
3negative regulation of endothelial cell proliferationGO:0019379.9ACVRL1, ENG
4BMP signaling pathwayGO:0305099.8ENG, ACVRL1
5regulation of blood pressureGO:0082179.8HMOX1, ACVRL1
6negative regulation of cell migrationGO:0303369.8ENG, ACVRL1
7retina vasculature development in camera-type eyeGO:0612989.8ACVRL1, HIF1A
8regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:0436199.7HMOX1, HIF1A
9heart loopingGO:0019479.7ENG, HIF1A
10positive regulation of endothelial cell proliferationGO:0019389.6ACVRL1, HIF1A
11cellular iron ion homeostasisGO:0068799.5HIF1A, HMOX1
12cellular response to hypoxiaGO:0714569.4HIF1A, HMOX1
13positive regulation of angiogenesisGO:0457669.4HMOX1, HIF1A
14response to hypoxiaGO:0016669.4ENG, HIF1A
15transforming growth factor beta receptor signaling pathwayGO:0071799.3ENG, ACVRL1
16negative regulation of neuron apoptotic processGO:0435249.2HMOX1, HIF1A
17angiogenesisGO:0015259.2HIF1A, ACVRL1, HMOX1
18positive regulation of transcription from RNA polymerase II promoterGO:0459449.0HIF1A, ACVRL1, ENG

Molecular functions related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:0481859.6ENG, ACVRL1
2transforming growth factor beta-activated receptor activityGO:0050249.5ENG, ACVRL1
3transforming growth factor beta bindingGO:0504319.3ENG, ACVRL1
4enzyme bindingGO:0198998.5HMOX1, ALB, HIF1A

Products for genes affiliated with Pulmonary Arteriovenous Malformation

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Sources for Pulmonary Arteriovenous Malformation

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet