MCID: PLM052
MIFTS: 36

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 46
Arteriovenous Malformation, Pulmonary 46 25
Pulmonary Arteriovenous Fistula 46
 
Pulmonary Avm 46
Pavm 46

Classifications:



Summaries for Pulmonary Arteriovenous Malformation

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NIH Rare Diseases:46 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 Pathway (sino). Affiliated tissues include liver, lung and heart.

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 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
BevacizumabPhase 1, Phase 21938216974-75-3
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-2bPhase 230299210-65-8, 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
3
IronPhase 210807439-89-623925
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
4interferonsPhase 22112
5
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
6pancreatin917

Interventional clinical trials:

(show all 16)
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
11Etiologies, Investigations and Outcomes of Patients Presenting With HemoptysisRecruitingNCT02913365
12Cerebral Hemorrhage Risk in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT01158807
13Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs)Active, not recruitingNCT00733759
14Molecular Determinants of Coronaruy Artery DiseaseActive, not recruitingNCT00590291
15RSSearch Patient Registry-Long Term Study of Use of SRS/SBRTEnrolling by invitationNCT01885299
16Cardiopulmonary 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 Malformation25

Anatomical Context for Pulmonary Arteriovenous Malformation

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MalaCards organs/tissues related to Pulmonary Arteriovenous Malformation:

34
Liver, Lung, Heart, Skin, Thyroid, Testes, Brain

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 299)
idTitleAuthorsYear
1
ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation. (27209598)
2016
2
Pulmonary arteriovenous malformation mimicking a pulmonary tumour on (18)F-fluorodeoxyglucose positron-emission tomography/computed tomography. (25995768)
2015
3
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita. (25854548)
2015
4
Pulmonary arteriovenous malformation: a rare cause of dyspnoea on exertion. (24744072)
2014
5
A giant pulmonary arteriovenous malformation without hereditary hemorrhagic telangiectasia: successful interventional embolization using a PDA occluder. (24627323)
2014
6
Direct haemodynamic effects of pulmonary arteriovenous malformation embolisation. (24604121)
2014
7
Transseptal guidewire stabilization for device closure of a large pulmonary arteriovenous malformation. (22806247)
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
Successful lung transplantation in a case with diffuse pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. (24165284)
2013
11
Contralateral decubitus positioning enhances computed tomographic angiographic evaluation of pulmonary vasculature in a patient with a pulmonary arteriovenous malformation. (22437510)
2012
12
Utility of contrast echocardiography for pulmonary arteriovenous malformation screening in pediatric hereditary hemorrhagic telangiectasia. (22196589)
2012
13
Pulmonary arteriovenous malformation. (21885638)
2011
14
One case of sporadic hemiplegic migraine with multiple pulmonary arteriovenous malformation. (21246241)
2011
15
A case report of an isolated pulmonary arteriovenous malformation causing stroke. (21156451)
2011
16
Transoesophageal echocardiographic diagnosis of pulmonary arteriovenous malformation in a patient with ischaemic stroke. (18723848)
2009
17
Covered stent to treat pulmonary arteriovenous malformation with short feeding artery. (19406669)
2009
18
Central large pulmonary arteriovenous malformation with aneurysmal dilatation. (19795336)
2009
19
Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. (19118276)
2009
20
The role of echocardiography in prenatal diagnosis of pulmonary arteriovenous malformation. (19340823)
2009
21
Lingual inferior segmentectomy for a 7-cm pulmonary arteriovenous malformation. (19670124)
2009
22
Pulmonary varix mimicking pulmonary arteriovenous malformation in a patient with Turner syndrome. (16043959)
2007
23
Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations. (17609460)
2007
24
Pulmonary arteriovenous malformation causing massive haemoptysis and complicated by coronary air embolism. (16494154)
2006
25
Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess. (16043953)
2006
26
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. (15943874)
2005
27
Brain abscess as the first clinical manifestation of multiple pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). (15827889)
2005
28
Incorporation of the hepatic veins into the cavopulmonary circulation in patients with heterotaxy and pulmonary arteriovenous malformations after a Kawashima procedure. (16242423)
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
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
34
Pulmonary arteriovenous malformation in patients with total cavopulmonary shunt: what role does lack of hepatic venous blood flow to the lungs play? (11455406)
2001
35
A 48-yr-old female with headache and dyspnoea. Pulmonary arteriovenous malformation. (11491181)
2001
36
Transcatheter occlusion of a large pulmonary arteriovenous malformation with use of a Cardioseal device. (11389232)
2001
37
Scintigraphic evaluation of small pulmonary right-to-left shunt and therapeutic effect in pulmonary arteriovenous malformation. (11507292)
2001
38
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
39
Diffuse pulmonary arteriovenous malformation: unusual cause of cyanosis in infancy. (17322714)
2000
40
Closure of a large pulmonary arteriovenous malformation using multiple Gianturco-Grifka vascular occlusion devices. (10751771)
2000
41
Reversal of pulmonary arteriovenous malformation after diversion of anomalous hepatic drainage. (9527235)
1998
42
Pulmonary arteriovenous malformation: evaluation by MR angiography. (9057556)
1997
43
Neuroradiology case of the day. Multiple cerebral abscesses associated with isolated pulmonary arteriovenous malformation. (9207557)
1997
44
Unusual complications after embolization of a pulmonary arteriovenous malformation. (8625700)
1996
45
Pulmonary arteriovenous malformation: diagnosis and treatment of spontaneous thrombosis and recanalization. (7703581)
1995
46
Diagnosis of pulmonary arteriovenous malformation by ultrafast chest computed tomography in Rendu-Osler-Weber syndrome with cerebral ischemia--a case report. (1595948)
1992
47
Quantification of right to left shunt at rest and during exercise in patients with pulmonary arteriovenous malformations. (1481178)
1992
48
Pulmonary arteriovenous malformation: an uncommon cause for cyanosis in the newborn. (6646888)
1983
49
Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation. (7372073)
1980
50
Pulmonary arteriovenous malformation: scintigraphic demonstration and analysis. (1113164)
1975

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
2
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 10)
idNameGO IDScoreTop Affiliating Genes
1endocardial cushion to mesenchymal transitionGO:00905009.8ACVRL1, ENG
2endocardial cushion morphogenesisGO:00032039.6ACVRL1, ENG
3positive regulation of BMP signaling pathwayGO:00305139.5ACVRL1, ENG
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5ACVRL1, ENG
5positive regulation of angiogenesisGO:00457669.4ACVRL1, ENG
6angiogenesisGO:00015259.3ACVRL1, ENG
7negative regulation of gene expressionGO:00106299.3ACVRL1, ENG
8dorsal aorta morphogenesisGO:00359129.2ACVRL1, ENG
9BMP signaling pathwayGO:00305099.2ACVRL1, ENG
10negative regulation of cell migrationGO:00303369.1ACVRL1, ENG

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:00481859.2ACVRL1, ENG
2transforming growth factor beta bindingGO:00504319.1ACVRL1, ENG

Sources for Pulmonary Arteriovenous Malformation

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet