MCID: PLM052
MIFTS: 28

Pulmonary Arteriovenous Malformation malady

Rare diseases category

Aliases & Classifications for Pulmonary Arteriovenous Malformation

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Aliases & Descriptions for Pulmonary Arteriovenous Malformation:

Name: Pulmonary Arteriovenous Malformation 45
Arteriovenous Malformation, Pulmonary 45
Pulmonary Arteriovenous Fistula 45
 
Pulmonary Avm 45
Pavm 45


Classifications:



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 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 . Affiliated tissues include brain, lung and liver.

Related Diseases for Pulmonary Arteriovenous Malformation

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation11.4
2hereditary hemorrhagic telangiectasia11.0
3cerebritis10.6
4hepatitis10.5
5aneurysm10.5
6pulmonary arterio-veinous fistula10.4
7arteriovenous fistula10.4
8heterotaxy10.4
9greenberg skeletal dysplasia10.3
10telangiectasia, hereditary hemorrhagic, type 410.3
11telangiectasia, hereditary hemorrhagic, type 110.3
12telangiectasia, hereditary hemorrhagic, type 210.3
13cerebral hemorrhage10.3
14hemangioma10.3
15liver cirrhosis10.3
16patent foramen ovale10.3
17cerebral angioma10.3
18brain angioma10.3
19brain cancer10.3
20hemangioma of lung10.3
21ischemia10.3
22pulmonary embolism10.3
23telangiectasis10.3
24tuberculosis10.3
25vascular cancer10.3
26congenital arteriovenous shunt10.3
27weber syndrome10.3
28vascular malformation10.3
29anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
30spondylosis10.2
31vascular skin disease10.2
32nose disease10.2
33respiratory system disease10.2
34skin hemangioma10.2
35thoracic cancer10.2
36malignant glioma10.2
37mitral valve stenosis10.2
38congenital hepatic fibrosis10.2
39amaurosis fugax10.2
40intracranial arteriovenous malformation10.2
41patent ductus venosus10.2
42tricuspid atresia10.2
43myocardial infarction10.1
44cardiomyopathy, dilated, 1a10.1
45stroke, ischemic10.1
46lung cancer10.1
47telangiectasia, hereditary hemorrhagic, type 310.1
48telangiectasia, hereditary hemorrhagic, type 510.1
49juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.1
50speech and communication disorders10.1

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 1, Phase 21820216974-75-3
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
Peginterferon alfa-2bapprovedPhase 229599210-65-8
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
Pegintron (TN)
Sylatron
Unitron PEG
3
IronapprovedPhase 29577439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
4Interferon-alphaPhase 21005
5
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
6pancreatin839

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective DoseRecruitingNCT02157987Phase 1, Phase 2
2Phase 2 Study of PEG-Intron in Hereditary Hemorrhagic TelangiectasiaTerminatedNCT00588146Phase 2
3Studies of Hereditary Hemorrhagic TelangiectasiaCompletedNCT00004648
4Retinal Arteriolar Abnormalities and CV MortalityCompletedNCT00011167
5Restrictive Versus Liberal Transfusion Protocol in Infants Undergoing Cardiac SurgeryCompletedNCT01484886
6Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMsRecruitingNCT02436213
7Reperfusion of Pulmonary Arteriovenous Malformations After EmbolotherapyRecruitingNCT01856842
8Case Notes Review on Patients With Hereditary Haemorrhagic TelangiectasiaRecruitingNCT00230685
9Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMsRecruitingNCT00230672
10Molecular Studies on Hereditary Haemorrhagic Telangiectasia FamiliesRecruitingNCT00230620
11Cerebral Hemorrhage Risk in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT01158807
12Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs)Active, not recruitingNCT00733759
13Molecular Determinants of Coronaruy Artery DiseaseActive, not recruitingNCT00590291
14RSSearch Patient Registry-Long Term Study of Use of SRS/SBRTEnrolling by invitationNCT01885299
15Cardiopulmonary 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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Anatomical Context for Pulmonary Arteriovenous Malformation

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MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

33
Brain, Lung, Liver, Heart, Bone, Testes

Animal Models for Pulmonary Arteriovenous Malformation or affiliated genes

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Publications for Pulmonary Arteriovenous Malformation

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Articles related to Pulmonary Arteriovenous Malformation:

(show top 50)    (show all 283)
idTitleAuthorsYear
1
Vein Diameter on Unenhanced Multidetector CT Predicts Reperfusion of Pulmonary Arteriovenous Malformation after Embolotherapy. (26560716)
2015
2
Pulmonary arteriovenous malformation mimicking a pulmonary tumour on (18)F-fluorodeoxyglucose positron-emission tomography/computed tomography. (25995768)
2015
3
Pulmonary arteriovenous malformation: a rare cause of dyspnoea on exertion. (24744072)
2014
4
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
5
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
6
How to identify pediatric cerebral and pulmonary arteriovenous malformation earlier: non-hereditary hemorrhagic telangiectasia case. (25172615)
2014
7
Transseptal guidewire stabilization for device closure of a large pulmonary arteriovenous malformation. (22806247)
2013
8
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
9
Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. (23707042)
2013
10
Elevated circulating microRNA-210 levels in patients with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: a potential new biomarker. (23051042)
2013
11
Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients. (24436569)
2013
12
Unique case of acquired pulmonary arteriovenous malformation developed by calcific constrictive pericarditis. (23417942)
2013
13
Anomalous lobar pulmonary vein resembling pulmonary arteriovenous malformation. (22314583)
2012
14
Early-stage lung cancer mimicking pulmonary arteriovenous malformation. (21642261)
2011
15
Multiple pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia complicated by embolic strokes. (21555646)
2011
16
Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. (20202952)
2010
17
Late onset of hypoxemia due to a pulmonary arteriovenous malformation during selective estrogen receptor modulator therapy. (20117453)
2010
18
Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation. (21510465)
2010
19
Outpatient single-session pulmonary arteriovenous malformation embolization. (19683942)
2009
20
Transoesophageal echocardiographic diagnosis of pulmonary arteriovenous malformation in a patient with ischaemic stroke. (18723848)
2009
21
Covered stent to treat pulmonary arteriovenous malformation with short feeding artery. (19406669)
2009
22
Central large pulmonary arteriovenous malformation with aneurysmal dilatation. (19795336)
2009
23
Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. (19118276)
2009
24
Embolization for pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia: a decision analysis. (19376841)
2009
25
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. (18156574)
2008
26
Pulmonary varix mimicking pulmonary arteriovenous malformation in a patient with Turner syndrome. (16043959)
2007
27
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: an echocardiographic perspective. (16455431)
2006
28
Pulmonary arteriovenous malformation causing massive haemoptysis and complicated by coronary air embolism. (16494154)
2006
29
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. (15943874)
2005
30
A 33-year-old male with a chest lesion on a routine chest radiograph. Pulmonary arteriovenous malformation (PAVM). (16438466)
2005
31
Large pulmonary arteriovenous malformation with hyperammonemia. (15552975)
2004
32
Transpleural ultrasound diagnosis of a pulmonary arteriovenous malformation. (15238412)
2004
33
Visualization of pulmonary arteriovenous malformation by three dimensional computed tomography: a case report. (14768481)
2003
34
Telangiectatic pulmonary arteriovenous malformation. (12700489)
2003
35
Osteomyelitis mimicking a primary bone tumor in a patient with pulmonary arteriovenous malformation and Osler-Weber-Rendu disease. (15290578)
2002
36
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
37
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
38
Diffuse pulmonary arteriovenous malformation: unusual cause of cyanosis in infancy. (17322714)
2000
39
Closure of a large pulmonary arteriovenous malformation using multiple Gianturco-Grifka vascular occlusion devices. (10751771)
2000
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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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 pathways (with members indented)ScoreTop Affiliating Genes
19.1ACVRL1, ENG
2
TGF-beta Signaling Pathway (sino)
Show member pathways
9.1ACVRL1, ENG
39.1ACVRL1, 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 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5ACVRL1, ENG
2negative regulation of endothelial cell proliferationGO:00019379.4ACVRL1, ENG
3positive regulation of BMP signaling pathwayGO:00305139.3ACVRL1, ENG
4negative regulation of cell migrationGO:00303369.2ACVRL1, ENG
5angiogenesisGO:00015259.1ACVRL1, ENG
6transforming growth factor beta receptor signaling pathwayGO:00071799.1ACVRL1, ENG
7BMP signaling pathwayGO:00305099.0ACVRL1, ENG

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:00481859.3ACVRL1, ENG
2transforming growth factor beta-activated receptor activityGO:00050249.2ACVRL1, ENG
3transforming growth factor beta bindingGO:00504319.1ACVRL1, ENG

Sources for Pulmonary Arteriovenous Malformation

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet