PAVM
MCID: PLM052
MIFTS: 45

Pulmonary Arteriovenous Malformation (PAVM) malady

Cardiovascular, Fetal categories

Summaries for Pulmonary Arteriovenous Malformation

Sources:
47OMIM, 33MalaCards
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MalaCards: Pulmonary Arteriovenous Malformation, also known as pulmonary arteriovenous fistula, is related to arteriovenous malformation and hereditary hemorrhagic telangiectasia. An important gene associated with Pulmonary Arteriovenous Malformation is ENG (endoglin), and among its related pathways are Angiogenesis and HIF-1-alpha transcription factor network. The compounds gsno and deta nonoate have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and brain, and related mouse phenotypes are respiratory system and liver/biliary system.

Description from OMIM:47 265140

Aliases & Classifications for Pulmonary Arteriovenous Malformation

Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular


Characteristics (Orphanet epidemiological data):

49
pulmonary arteriovenous fistula:
Inheritance: Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

pulmonary arteriovenous malformation 43
pulmonary arteriovenous fistula 43 49 47
arteriovenous fistula of pulmonary vessels 61
arteriovenous malformation, pulmonary 43
pulmonar arteriovenous aneurysm 49
pulmonary avm 43
pavm 43


External Ids:

OMIM47 265140
ICD10 via Orphanet26 Q25.7

Related Diseases for Pulmonary Arteriovenous Malformation

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pulmonary Arteriovenous Malformation:



Diseases related to pulmonary arteriovenous malformation

Clinical Features for Pulmonary Arteriovenous Malformation

Sources:
47OMIM
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Clinical features from OMIM:

265140

Clinical synopsis from OMIM:

265140

Drugs & Therapeutics for Pulmonary Arteriovenous Malformation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Pulmonary Arteriovenous Malformation

Sources:
33MalaCards
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MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

33
Liver, Spinal cord, Brain, Lung, Heart, Fetal brain, Fetal liver, Fetal lung

Animal Models for Pulmonary Arteriovenous Malformation or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Pulmonary Arteriovenous Malformation:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6ENG, ACVRL1, HIF1A
2MP:00053708.1ALB, ACVRL1, HMOX1, HIF1A
3MP:00053698.0HIF1A, HMOX1, ACVRL1, ENG
4MP:00053767.6ALB, ENG, ACVRL1, HMOX1, HIF1A

Publications for Pulmonary Arteriovenous Malformation

Sources:
51PubMed
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Articles related to Pulmonary Arteriovenous Malformation:

(show top 50)    (show all 260)
idTitleAuthorsYear
1
Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients. (24436569)
2013
2
Unique case of acquired pulmonary arteriovenous malformation developed by calcific constrictive pericarditis. (23417942)
2013
3
Anomalous Unilateral Single Pulmonary Vein Mimicking Pulmonary Arteriovenous Malformation. (23989502)
2013
4
Venous sac embolization of pulmonary arteriovenous malformation: safety and effectiveness at mid-term follow-up. (24252815)
2013
5
Pulmonary arteriovenous malformation in cryptogenic liver cirrhosis. (24034200)
2013
6
Anomalous lobar pulmonary vein resembling pulmonary arteriovenous malformation. (22314583)
2012
7
Contralateral decubitus positioning enhances computed tomographic angiographic evaluation of pulmonary vasculature in a patient with a pulmonary arteriovenous malformation. (22437510)
2012
8
Pulmonary embolism following histoacryl glue embolization for a large thigh arteriovenous malformation. (23099967)
2012
9
Pulmonary arteriovenous malformation: a rare anterior mediastinal mass. (23043574)
2012
10
Prenatal diagnosis of a pulmonary arteriovenous malformation. (21520477)
2012
11
Pulmonary arteriovenous malformation presenting as a large aneurysm. (23076692)
2012
12
Pulmonary arteriovenous malformation. (21885638)
2011
13
One case of sporadic hemiplegic migraine with multiple pulmonary arteriovenous malformation. (21246241)
2011
14
Spontaneous hemothorax: first manifestation of pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. (22737829)
2011
15
Pulmonary Arteriovenous Malformations in Heterotaxy Syndrome: The Case for Early, Direct Hepatic Vein-to-Azygos Vein Connection. (23804943)
2011
16
Role of contrast echocardiography in screening for pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. (20923794)
2010
17
Fistulectomy as a surgical option for pulmonary arteriovenous malformation. (20079133)
2009
18
Pulmonary arteriovenous malformations associated with migraine with aura. (19324948)
2009
19
Massive pulmonary arteriovenous malformation presenting with tamponading haemothorax. (21687097)
2009
20
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. (18156574)
2008
21
Quantitative shunt imaging in the evaluation of therapeutic surgery in a patient with pulmonary arteriovenous malformation. (18640353)
2008
22
Massive haemothorax: a presentation of pulmonary arteriovenous malformation. (18630796)
2008
23
Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess. (16043953)
2006
24
Pulmonary arteriovenous malformation presenting with severe hypoxemia. (16220018)
2005
25
Transpleural ultrasound diagnosis of a pulmonary arteriovenous malformation. (15238412)
2004
26
Transcatheter embolization of multiple bilateral pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia. (15336821)
2004
27
Use of the TriSpan coil to facilitate the transcatheter occlusion of pulmonary arteriovenous malformation. (15593430)
2004
28
A small pulmonary arteriovenous malformation as a cause of recurrent brain embolism. (15037468)
2004
29
Pulmonary arteriovenous malformation treated by lobectomy. (12895639)
2003
30
Contrast transesophageal echocardiographic detection of a pulmonary arteriovenous malformation draining into left lower pulmonary vein. (12848887)
2003
31
Pulmonary arteriovenous malformation. (12056354)
2002
32
The role of oxidative stress in the development of pulmonary arteriovenous malformations after cavopulmonary anastomosis. (12202863)
2002
33
Acquired systemic-to-pulmonary arteriovenous malformation secondary to Mycobacterium tuberculosis empyema. (12400775)
2002
34
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
35
Transcatheter occlusion of a large pulmonary arteriovenous malformation with use of a Cardioseal device. (11389232)
2001
36
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations. (11336762)
2001
37
Anomalous unilateral single pulmonary vein masquerading as a pulmonary arteriovenous malformation. (11312210)
2001
38
Cerebral abscess associated with a pulmonary arteriovenous malformation in a patient suffering from alpha thalassaemia. (11398950)
2001
39
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
40
Diffuse pulmonary arteriovenous malformation: unusual cause of cyanosis in infancy. (17322714)
2000
41
Congenital central pulmonary arteriovenous malformation: a case report. (11084793)
2000
42
Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. (10453873)
1999
43
Resection of a solitary pulmonary arteriovenous malformation by video-assisted thoracic surgery. (9806398)
1998
44
Progression of pulmonary arteriovenous malformation during pregnancy: case report and review of the literature. (9095491)
1997
45
Transcranial Doppler ultrasonography and transesophageal echocardiography in the investigation of pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia presenting with stroke. (7570752)
1995
46
Pulmonary arteriovenous malformation complicating coccidioidal pneumonia. (7646120)
1995
47
Transcatheter coil embolisation of a pulmonary arteriovenous malformation in a neonate. (8198890)
1994
48
MR angiographic diagnosis of recanalization in a thrombosed pulmonary arteriovenous malformation. (8207773)
1994
49
Improvement in exercise performance after pulmonary arteriovenous malformation embolization. (2108843)
1990
50
PULMONARY ARTERIOVENOUS MALFORMATION: AN UNUSUAL CAUSE OF CEREBRAL EMBOLISM. (14346466)
1965

Genetic Variations for Pulmonary Arteriovenous Malformation

Expression for genes affiliated with Pulmonary Arteriovenous Malformation

Sources:
1BioGPS, 15Gene 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

Sources:
4Cell Signaling Technology, 38NCBI BioSystems Database
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Pathways related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ENG, HMOX1, HIF1A
29.1ENG, HMOX1, HIF1A

Compounds for genes affiliated with Pulmonary Arteriovenous Malformation

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 29IUPHAR, 50PharmGKB, 24HMDB
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Compounds related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1gsno4510.2HIF1A
2deta nonoate459.9HMOX1, HIF1A
3cobalt chloride459.9HMOX1, HIF1A
4trolox459.8HIF1A, HMOX1
5s-nitroso-n-acetylpenicillamine459.8HIF1A, HMOX1
6ns 39845 6010.8HMOX1, HIF1A
7deferoxamine45 1110.8HMOX1, HIF1A
8auranofin45 60 29 1112.8ALB, HMOX1
9rotenone459.7HIF1A, HMOX1
10isoflurane45 1110.7HMOX1, ALB
11candesartan45 29 1111.7ALB, HIF1A
12propofol45 50 1111.7ALB, HMOX1
13leptomycin b45 6010.6HMOX1, HIF1A
142-deoxyglucose45 1110.6HMOX1, HIF1A
15manganese superoxide459.6HMOX1, HIF1A
16halothane45 29 1111.5ALB, HIF1A
17doxorubicin45 50 1111.4ENG, HMOX1, HIF1A
18salicylic acid45 2910.4HMOX1, ALB
19irinotecan45 50 1111.3ALB, HIF1A
20celecoxib45 60 29 50 11 2414.2ALB, HIF1A
21pdtc459.2HMOX1, HIF1A
22histamine45 29 2411.2ALB, HMOX1, HIF1A
23iron45 2410.1ALB, HMOX1, HIF1A
24lactate459.1HIF1A, HMOX1, ALB
25ascorbic acid45 249.8ALB, ENG, HMOX1, HIF1A
26cysteine458.8ALB, ENG, HMOX1, HIF1A
27vegf458.6HIF1A, HMOX1, ACVRL1, ENG

GO Terms for genes affiliated with Pulmonary Arteriovenous Malformation

Sources:
16Gene Ontology
See all sources

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:0436199.8HMOX1, HIF1A
2heart loopingGO:0019479.7HIF1A, ENG
3cellular iron ion homeostasisGO:0068799.5HIF1A, HMOX1
4positive regulation of angiogenesisGO:0457669.5HMOX1, HIF1A
5positive regulation of BMP signaling pathwayGO:0305139.5ACVRL1, ENG
6negative regulation of endothelial cell proliferationGO:0019379.5ENG, ACVRL1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.4ENG, ACVRL1
8retina vasculature development in camera-type eyeGO:0612989.4ACVRL1, HIF1A
9BMP signaling pathwayGO:0305099.4ENG, ACVRL1
10positive regulation of endothelial cell proliferationGO:0019389.3ACVRL1, HIF1A
11regulation of blood pressureGO:0082179.3ACVRL1, HMOX1
12cellular response to hypoxiaGO:0714569.2HMOX1, HIF1A
13negative regulation of cell migrationGO:0303369.1ENG, ACVRL1
14angiogenesisGO:0015258.9ACVRL1, HMOX1, HIF1A

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:0481859.2ENG, ACVRL1
2transforming growth factor beta bindingGO:0504319.1ENG, ACVRL1
3transforming growth factor beta-activated receptor activityGO:0050248.9ENG, ACVRL1
4enzyme bindingGO:0198998.9ALB, HMOX1, HIF1A

Products for genes affiliated with Pulmonary Arteriovenous Malformation

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pulmonary Arteriovenous Malformation

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet