MCID: PLM052
MIFTS: 34

Pulmonary Arteriovenous Malformation malady

Category: Rare diseases

Aliases & Classifications for Pulmonary Arteriovenous Malformation

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Aliases & Descriptions for Pulmonary Arteriovenous Malformation:

Name: Pulmonary Arteriovenous Malformation 48
Arteriovenous Malformation, Pulmonary 48 27
Pulmonary Arteriovenous Fistula 48
 
Pulmonary Avm 48
Pavm 48

Classifications:



Summaries for Pulmonary Arteriovenous Malformation

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NIH Rare Diseases:48 Pulmonary arteriovenous malformation (PAVM) is a condition that affects blood flow between the heart and the lungs. Affected people have an abnormal connection between the pulmonary vein (carries blood from the lungs to the heart) and pulmonary artery (carries blood from the heart to the lungs). As a result, blood may not be properly oxygenated by the lungs. Some affected people may have no signs or symptoms of the condition. When present, symptoms may include difficulty breathing, nosebleeds, shortness of breath, difficulty exercising, and blue skin. Most people with PAVM have an inherited condition called hereditary hemorrhagic telangiectasia, which is inherited in an autosomal dominant manner. Other conditions that are less commonly associated with PAVM include liver disease (mainly liver cirrhosis), certain forms of congenital heart disease, chronic infections, and metastatic thyroid cancer. Treatment varies based on the severity of the condition and the associated signs and symptoms. When necessary, treatment typically includes embolization, surgery, and/or addressing associated conditions. Last updated: 5/25/2016

MalaCards based summary: Pulmonary Arteriovenous Malformation, also known as arteriovenous malformation, pulmonary, is related to pulmonary arteriovenous fistulas and arteriovenous malformation. An important gene associated with Pulmonary Arteriovenous Malformation is ACVRL1 (Activin A Receptor Like Type 1), and among its related pathways are TGF-beta Receptor Signaling Pathway and TGF-beta Signaling Pathways. Affiliated tissues include testes, brain and liver.

Related Diseases for Pulmonary Arteriovenous Malformation

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Graphical network of the top 20 diseases related to Pulmonary Arteriovenous Malformation:



Diseases related to pulmonary arteriovenous malformation

Symptoms & Phenotypes for Pulmonary Arteriovenous Malformation

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Drugs & Therapeutics for Pulmonary Arteriovenous Malformation

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Drugs for Pulmonary Arteriovenous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 1, Phase 21968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
IronapprovedPhase 211237439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
3
Peginterferon alfa-2bapprovedPhase 230899210-65-8, 215647-85-1
Synonyms:
215647-85-1
D02748
PEG-Intron
PegIntron
 
Peginterferon alfa-2b
Peginterferon alfa-2b (INN)
Peginterferon alfa-2b (generical recombination)
Peginterferon alfa-2b (generical recombination) (JAN)
Pegintron (TN)
Unitron PEG
4Angiogenesis Modulating AgentsPhase 1, Phase 24072
5Angiogenesis InhibitorsPhase 1, Phase 24143
6Liver ExtractsPhase 23868
7Interferon-alphaPhase 21139
8interferonsPhase 22137
9Anti-Infective AgentsPhase 221402
10Antiviral AgentsPhase 29732
11
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
12pancreatin935

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective DoseUnknown statusNCT02157987Phase 1, Phase 2
2Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic TelangiectasiaTerminatedNCT00588146Phase 2
3Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs)Unknown statusNCT00733759
4Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMsUnknown statusNCT00230672
5Molecular Determinants of Coronaruy Artery DiseaseUnknown statusNCT00590291
6Studies of Hereditary Hemorrhagic TelangiectasiaCompletedNCT00004648
7Retinal Arteriolar Abnormalities and CV MortalityCompletedNCT00011167
8Restrictive Versus Liberal Transfusion Protocol in Infants Undergoing Cardiac SurgeryCompletedNCT01484886
9Reperfusion of Pulmonary Arteriovenous Malformations After EmbolotherapyRecruitingNCT01856842
10Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMsRecruitingNCT02436213
11Case Notes Review on Patients With Hereditary Haemorrhagic TelangiectasiaRecruitingNCT00230685
12Graded TTCE for Post-Embolization PAVM MonitoringRecruitingNCT02936349
13Molecular Studies on Hereditary Haemorrhagic Telangiectasia FamiliesRecruitingNCT00230620
14Cerebral Hemorrhage Risk in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT01158807
15Etiologies, Investigations and Outcomes of Patients Presenting With HemoptysisRecruitingNCT02913365
16RSSearch Patient Registry-Long Term Study of Use of SRS/SBRTEnrolling by invitationNCT01885299
17Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow ObstructionNot yet recruitingNCT02458703

Search NIH Clinical Center for Pulmonary Arteriovenous Malformation

Genetic Tests for Pulmonary Arteriovenous Malformation

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Genetic tests related to Pulmonary Arteriovenous Malformation:

id Genetic test Affiliating Genes
1 Pulmonary Arteriovenous Malformation27

Anatomical Context for Pulmonary Arteriovenous Malformation

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MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

36
Testes, Brain, Liver, Lung, Heart, Bone

Publications for Pulmonary Arteriovenous Malformation

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Articles related to Pulmonary Arteriovenous Malformation:

(show top 50)    (show all 303)
idTitleAuthorsYear
1
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. (27824607)
2016
2
Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. (27867584)
2016
3
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation. (27209598)
2016
4
Reply to Letter Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". (27506772)
2016
5
Wake-Up Call: Pulmonary Arteriovenous Malformation. (27888050)
2016
6
Usefulness of Transcranial Doppler for Detecting Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. (26873746)
2016
7
Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. (27150804)
2016
8
Feasibility of Non-contrast-enhanced MR Angiography Using the Time-SLIP Technique for the Assessment of Pulmonary Arteriovenous Malformation. (26841853)
2016
9
Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke. (26896908)
2016
10
Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". (27501797)
2016
11
Implications of an Incidental Pulmonary Arteriovenous Malformation. (27027094)
2016
12
Patent Foramen Ovale Combined With Pulmonary Arteriovenous Malformation. (27765314)
2016
13
Regression of a Pulmonary Arteriovenous Malformation after Acute Interstitial Nephritis. (27250058)
2016
14
Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension. (27413264)
2016
15
Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT. (26724660)
2016
16
Salvage pneumonectomy for pulmonary arteriovenous malformation in a 12-year-old boy with brain abscess and hemiparesis: A fatal outcome. (27051111)
2016
17
Pulmonary arteriovenous malformation mimicking a pulmonary tumour on (18)F-fluorodeoxyglucose positron-emission tomography/computed tomography. (25995768)
2015
18
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita. (25854548)
2015
19
A case of pulmonary metastasis of giant cell tumor of bone presenting as pulmonary arteriovenous malformation. (25839772)
2015
20
Pulmonary arteriovenous malformation in children. (25712408)
2015
21
Embolisation for pulmonary arteriovenous malformation. (25634560)
2015
22
Management of a solitary pulmonary arteriovenous malformation by video-assisted thoracoscopic surgery and anatomic lingula resection: video and review. (26156615)
2015
23
Pulmonary arteriovenous malformation: An unusual cause of hemothorax. (26664184)
2015
24
Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2. (26245826)
2015
25
Vein Diameter on Unenhanced Multidetector CT Predicts Reperfusion of Pulmonary Arteriovenous Malformation after Embolotherapy. (26560716)
2015
26
Pulmonary arteriovenous malformation as a cause of embolic stroke: case report and review of the literature. (25999989)
2015
27
Spontaneous cerebral gas embolism and pulmonary arteriovenous malformation: a case report. (26591982)
2015
28
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14. (25815003)
2015
29
Successful Treatment of a Large Pulmonary Arteriovenous Malformation by Repeated Coil Embolization. (26508934)
2015
30
A large pulmonary arteriovenous malformation causing cerebrovascular accidents. (25883250)
2015
31
Lung granuloma mimicking pulmonary arteriovenous malformation: Report of a case. (25541371)
2015
32
Device closure of pulmonary arteriovenous malformation using Amplatzer vascular plug II in hereditary hemorrhagic telangiectasia. (26432734)
2015
33
Huge Pulmonary Arteriovenous Malformation, Venous Thromboembolism and Anticoagulation Treatment in a Patient with Hereditary Hemorrhagic Telangiectasia. (26521904)
2015
34
Pulmonary arteriovenous malformation-etiology, clinical four case presentations and review of the literature. (26261842)
2015
35
Pulmonary arteriovenous malformation: a rare cause of dyspnoea on exertion. (24744072)
2014
36
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
37
Direct haemodynamic effects of pulmonary arteriovenous malformation embolisation. (24604121)
2014
38
Transcatheter closure of a pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. (24928099)
2014
39
BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report. (24853021)
2014
40
Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia. (25222056)
2014
41
Iron deficiency, ischaemic strokes, and right-to-left shunts: From pulmonary arteriovenous malformations to patent foramen ovale? (25343129)
2014
42
Iatrogenic exacerbation of pulmonary arteriovenous malformation in a patient with benign metastasizing leiomyoma. (25473552)
2014
43
Case of double-outlet right ventricle after repair with pulmonary arteriovenous malformations using cardiac CT. (24998091)
2014
44
Brain abscess as the first manifestation of pulmonary arteriovenous malformation: A case report. (24592375)
2014
45
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
46
How to identify pediatric cerebral and pulmonary arteriovenous malformation earlier: non-hereditary hemorrhagic telangiectasia case. (25172615)
2014
47
Pulmonary arteriovenous malformation and Ebstein's anomaly in a patient: a rare combination. (25410039)
2014
48
Pulmonary arteriovenous malformation with actinomycotic brain abscess: a rare association. (24726259)
2014
49
A pulmonary arteriovenous malformation growing for 35 years comes to an end. (24484331)
2014
50
Good obstetric outcome after embolisation of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia: planned pregnancy may also be important in this condition. (24689935)
2014

Variations for Pulmonary Arteriovenous Malformation

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Expression for genes affiliated with Pulmonary Arteriovenous Malformation

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1ACVRL1, ENG
29.1ACVRL1, ENG

GO Terms for genes affiliated with Pulmonary Arteriovenous Malformation

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Cellular components related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.1ACVRL1, ENG

Biological processes related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.8ACVRL1, ENG
2BMP signaling pathwayGO:00305099.8ACVRL1, ENG
3dorsal aorta morphogenesisGO:00359129.8ACVRL1, ENG
4endocardial cushion morphogenesisGO:00032039.8ACVRL1, ENG
5endocardial cushion to mesenchymal transitionGO:00905009.8ACVRL1, ENG
6negative regulation of cell migrationGO:00303369.8ACVRL1, ENG
7negative regulation of gene expressionGO:00106299.7ACVRL1, ENG
8positive regulation of angiogenesisGO:00457669.6ACVRL1, ENG
9positive regulation of BMP signaling pathwayGO:00305139.6ACVRL1, ENG
10positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.1ACVRL1, ENG

Molecular functions related to Pulmonary Arteriovenous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:00481859.4ACVRL1, ENG
2transforming growth factor beta bindingGO:00504319.1ACVRL1, ENG

Sources for Pulmonary Arteriovenous Malformation

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet