PAVM
MCID: PLM052
MIFTS: 46

Pulmonary Arteriovenous Malformation (PAVM) malady

Rare diseases category
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Summaries for Pulmonary Arteriovenous Malformation

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MalaCards based summary: Pulmonary Arteriovenous Malformation, also known as arteriovenous malformation, pulmonary, is related to arteriovenous malformation and angiodysplasia. 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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Pulmonary Arteriovenous Malformation, Aliases & Descriptions:

Name: Pulmonary Arteriovenous Malformation 42
Arteriovenous Malformation, Pulmonary 42
Pulmonary Arteriovenous Fistula 42
 
Pulmonary Avm 42
Pavm 42


Classifications:

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


Related Diseases for Pulmonary Arteriovenous Malformation

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Diseases related to Pulmonary Arteriovenous Malformation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation32.3ENG, ACVRL1
2angiodysplasia30.5ENG, ACVRL1
3telangiectasis30.5ENG, ACVRL1
4pulmonary hypertension30.2HIF1A, ACVRL1
5ischemia30.0ENG, HMOX1, HIF1A
6hereditary hemorrhagic telangiectasia10.9
7cerebritis10.6
8hepatitis10.5
9aneurysm10.5
10pulmonary arterio-veinous fistula10.4
11malaria10.4ALB
12migraine10.4
13heterotaxy10.4
14connective tissue disease10.3ALB
15hypertension10.3
16liver cirrhosis10.3
17patent foramen ovale10.3
18pulmonary embolism10.3
19tuberculosis10.3
20weber syndrome10.3
21intracranial hemorrhage in brain cerebrovascular malformations10.2ENG, ACVRL1
22telangiectasia, hereditary hemorrhagic, type 510.2ENG, ACVRL1
23malignant glioma10.2
24mitral valve stenosis10.2
25scimitar syndrome10.2
26congenital hepatic fibrosis10.2
27amaurosis fugax10.2
28intracranial arteriovenous malformation10.2
29patent ductus venosus10.2
30tricuspid atresia10.2
31angina pectoris10.1
32arteriovenous fistula10.1
33myocardial infarction10.1
34double outlet right ventricle10.1
35exophthalmos10.1
36necrotizing fasciitis10.1
37constrictive pericarditis10.1
38fasciitis10.1
39lung cancer10.1
40mediastinitis10.1
41migraine with aura10.1
42osteomyelitis10.1
43pericarditis10.1
44pneumonia10.1
45pneumothorax10.1
46respiratory failure10.1
47hemangioendothelioma10.1
48hemiplegic migraine10.1
49sporadic hemiplegic migraine10.1
50headache10.1

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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Drug clinical trials:

Search ClinicalTrials for Pulmonary Arteriovenous Malformation

Search NIH Clinical Center for Pulmonary Arteriovenous Malformation

Genetic Tests for Pulmonary Arteriovenous Malformation

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Anatomical Context for Pulmonary Arteriovenous Malformation

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MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

32
Brain, Lung, Liver, Bone, Heart, Testes

Animal Models for Pulmonary Arteriovenous Malformation or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Arteriovenous Malformation:

36
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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Articles related to Pulmonary Arteriovenous Malformation:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Pulmonary arteriovenous malformation: a rare cause of dyspnoea on exertion. (24744072)
2014
2
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
3
Association between reperfusion and shrinkage percentage of the aneurysmal sac after embolization of pulmonary arteriovenous malformation: evaluation based on contrast-enhanced thin-section CT images. (24634005)
2014
4
How to identify pediatric cerebral and pulmonary arteriovenous malformation earlier: non-hereditary hemorrhagic telangiectasia case. (25172615)
2014
5
Transseptal guidewire stabilization for device closure of a large pulmonary arteriovenous malformation. (22806247)
2013
6
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
7
Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. (23707042)
2013
8
Elevated circulating microRNA-210 levels in patients with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: a potential new biomarker. (23051042)
2013
9
Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients. (24436569)
2013
10
Unique case of acquired pulmonary arteriovenous malformation developed by calcific constrictive pericarditis. (23417942)
2013
11
Anomalous lobar pulmonary vein resembling pulmonary arteriovenous malformation. (22314583)
2012
12
Early-stage lung cancer mimicking pulmonary arteriovenous malformation. (21642261)
2011
13
Multiple pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia complicated by embolic strokes. (21555646)
2011
14
Pulmonary arteriovenous malformation in Osler-Weber-Rendu syndrome. (22100937)
2011
15
Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. (20202952)
2010
16
Late onset of hypoxemia due to a pulmonary arteriovenous malformation during selective estrogen receptor modulator therapy. (20117453)
2010
17
Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation. (21510465)
2010
18
Outpatient single-session pulmonary arteriovenous malformation embolization. (19683942)
2009
19
Transoesophageal echocardiographic diagnosis of pulmonary arteriovenous malformation in a patient with ischaemic stroke. (18723848)
2009
20
Covered stent to treat pulmonary arteriovenous malformation with short feeding artery. (19406669)
2009
21
Central large pulmonary arteriovenous malformation with aneurysmal dilatation. (19795336)
2009
22
Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. (19118276)
2009
23
Embolization for pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia: a decision analysis. (19376841)
2009
24
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. (18156574)
2008
25
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: an echocardiographic perspective. (16455431)
2006
26
Pulmonary arteriovenous malformation causing massive haemoptysis and complicated by coronary air embolism. (16494154)
2006
27
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. (15943874)
2005
28
A 33-year-old male with a chest lesion on a routine chest radiograph. Pulmonary arteriovenous malformation (PAVM). (16438466)
2005
29
Large pulmonary arteriovenous malformation with hyperammonemia. (15552975)
2004
30
Transpleural ultrasound diagnosis of a pulmonary arteriovenous malformation. (15238412)
2004
31
Visualization of pulmonary arteriovenous malformation by three dimensional computed tomography: a case report. (14768481)
2003
32
Telangiectatic pulmonary arteriovenous malformation. (12700489)
2003
33
Osteomyelitis mimicking a primary bone tumor in a patient with pulmonary arteriovenous malformation and Osler-Weber-Rendu disease. (15290578)
2002
34
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
35
Pulmonary arteriovenous malformation in patients with total cavopulmonary shunt: what role does lack of hepatic venous blood flow to the lungs play? (11455406)
2001
36
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
37
Diffuse pulmonary arteriovenous malformation: unusual cause of cyanosis in infancy. (17322714)
2000
38
Closure of a large pulmonary arteriovenous malformation using multiple Gianturco-Grifka vascular occlusion devices. (10751771)
2000
39
Pulmonary arteriovenous malformation. (10421627)
1999
40
Resection of a solitary pulmonary arteriovenous malformation by video-assisted thoracic surgery. (9806398)
1998
41
Massive hemoptysis in a child due to pulmonary arteriovenous malformation. (9258781)
1997
42
Pulmonary arteriovenous malformation: evaluation by MR angiography. (9057556)
1997
43
Unusual complications after embolization of a pulmonary arteriovenous malformation. (8625700)
1996
44
Pulmonary arteriovenous malformation with rare neurological manifestations. (2804504)
1989
45
Cyanosis due to pulmonary arteriovenous malformation. (3051975)
1988
46
Systemic supply to a pulmonary arteriovenous malformation: a relative contraindication to surgery. (3875988)
1985
47
Pulmonary arteriovenous malformation: an uncommon cause for cyanosis in the newborn. (6646888)
1983
48
Pitfall in the CT diagnosis of pulmonary arteriovenous malformation. (6863675)
1983
49
Orthocyanosis: a sign of pulmonary arteriovenous malformation. (7170687)
1982
50
Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation. (7372073)
1980

Variations for Pulmonary Arteriovenous Malformation

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Expression for genes affiliated with Pulmonary Arteriovenous Malformation

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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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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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Compounds related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1deta nonoate449.8HMOX1, HIF1A
2cobalt chloride449.8HMOX1, HIF1A
3trolox449.8HIF1A, HMOX1
4s-nitroso-n-acetylpenicillamine449.7HIF1A, HMOX1
5gsno449.7HIF1A, HMOX1
6ns 39844 6110.7HMOX1, HIF1A
7deferoxamine44 1110.7HMOX1, HIF1A
8rotenone449.7HIF1A, HMOX1
9leptomycin b44 6110.7HMOX1, HIF1A
102-deoxyglucose44 1110.7HIF1A, HMOX1
11manganese superoxide449.7HMOX1, HIF1A
12pdtc449.7HIF1A, HMOX1
13lactacystin449.6HIF1A, HMOX1
14sp 60012544 6110.6HMOX1, HIF1A
15sodium nitroprusside449.6HIF1A, HMOX1
16auranofin28 44 61 1112.6HMOX1, ALB
17Bilirubin249.6ALB, HMOX1
18resveratrol44 61 24 1112.6HIF1A, HMOX1
19isoflurane50 44 1111.6ALB, HMOX1
20propofol44 50 1111.5ALB, HMOX1
21tgf beta1449.5ENG, ACVRL1
22salicylic acid44 2810.5HMOX1, ALB
23egcg449.5HIF1A, HMOX1
24polyethylene glycol449.5HMOX1, ALB
25candesartan44 50 28 1112.5ALB, HIF1A
26alpha tocopherol449.4HMOX1, ALB
27halothane44 50 28 1112.4ALB, HIF1A
28dihydrotestosterone44 28 24 1112.4HIF1A, ENG
29mg 13244 6110.4HIF1A, HMOX1
30celecoxib44 61 28 50 24 1114.4ALB, HIF1A
31irinotecan44 50 1111.4ALB, HIF1A
32rosiglitazone28 44 50 24 1113.3HMOX1, ALB
33oligonucleotide449.3HIF1A, ACVRL1, ENG
34doxorubicin44 50 1111.3ENG, HMOX1, HIF1A
35mannitol44 1110.3ALB, HIF1A
36citrate449.2HMOX1, ALB
37threonine449.2ENG, ACVRL1, HIF1A
38hyaluronic acid44 2410.2ENG, ALB
39dexamethasone44 50 28 1112.2ENG, HMOX1, HIF1A
40quercetin44 61 24 1112.0HMOX1, HIF1A
41histamine44 28 2410.9HMOX1, ALB, HIF1A
42vegf448.9HIF1A, ACVRL1, HMOX1, ENG
43iron44 249.9HMOX1, ALB, HIF1A
44lactate448.9HMOX1, ALB, HIF1A
45alanine448.7HMOX1, ALB, HIF1A
46ascorbic acid44 249.5ENG, HMOX1, ALB, HIF1A
47cysteine448.5ENG, HMOX1, ALB, HIF1A

GO Terms for genes affiliated with Pulmonary Arteriovenous Malformation

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet