PAVM
MCID: PLM052
MIFTS: 38

Pulmonary Arteriovenous Malformation (PAVM) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Pulmonary Arteriovenous Malformation

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46OMIM, 32MalaCards
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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. Related mouse phenotypes are respiratory system and liver/biliary system.

Description from OMIM:46 265140

Aliases & Classifications for Pulmonary Arteriovenous Malformation

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42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pulmonary arteriovenous fistula:
Inheritance: Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

pulmonary arteriovenous malformation 42
pulmonary arteriovenous fistula 42 48 46
arteriovenous fistula of pulmonary vessels 60
arteriovenous malformation, pulmonary 42
pulmonar arteriovenous aneurysm 48
pulmonary avm 42
pavm 42


External Ids:

SNOMED-CT via Orphanet57 111289009
OMIM46 265140
ICD10 via Orphanet26 Q25.7

Related Diseases for Pulmonary Arteriovenous Malformation

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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

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46OMIM
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Clinical features from OMIM:

265140

Clinical synopsis from OMIM:

265140

Drugs & Therapeutics for Pulmonary Arteriovenous Malformation

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Animal Models for Pulmonary Arteriovenous Malformation or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pulmonary Arteriovenous Malformation:

36
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

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Genetic Variations for Pulmonary Arteriovenous Malformation

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Expression for genes affiliated with Pulmonary Arteriovenous Malformation

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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

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Sources:
4Cell Signaling Technology, 37NCBI 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

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Pulmonary Arteriovenous Malformation according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1gsno4410.2HIF1A
2deta nonoate449.9HMOX1, HIF1A
3cobalt chloride449.9HMOX1, HIF1A
4trolox449.8HIF1A, HMOX1
5s-nitroso-n-acetylpenicillamine449.8HIF1A, HMOX1
6ns 39844 5910.8HMOX1, HIF1A
7deferoxamine44 1110.8HMOX1, HIF1A
8auranofin44 59 28 1112.8ALB, HMOX1
9rotenone449.7HIF1A, HMOX1
10isoflurane44 1110.7HMOX1, ALB
11candesartan44 28 1111.7ALB, HIF1A
12propofol44 49 1111.7ALB, HMOX1
13leptomycin b44 5910.6HMOX1, HIF1A
142-deoxyglucose44 1110.6HMOX1, HIF1A
15manganese superoxide449.6HMOX1, HIF1A
16halothane44 28 1111.5ALB, HIF1A
17doxorubicin44 49 1111.4ENG, HMOX1, HIF1A
18salicylic acid44 2810.4HMOX1, ALB
19irinotecan44 49 1111.3ALB, HIF1A
20celecoxib44 59 28 49 11 2414.2ALB, HIF1A
21pdtc449.2HMOX1, HIF1A
22histamine44 28 2411.2ALB, HMOX1, HIF1A
23iron44 2410.1ALB, HMOX1, HIF1A
24lactate449.1HIF1A, HMOX1, ALB
25ascorbic acid44 249.8ALB, ENG, HMOX1, HIF1A
26cysteine448.8ALB, ENG, HMOX1, HIF1A
27vegf448.6HIF1A, HMOX1, ACVRL1, ENG

GO Terms for genes affiliated with Pulmonary Arteriovenous Malformation

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet