MCID: ART005
MIFTS: 62

Arteriovenous Malformation malady

Genetic diseases (common), Cancer diseases categories
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Summaries for Arteriovenous Malformation

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34MedlinePlus, 65Wikipedia, 33MalaCards
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MedlinePlus:34 Arteriovenous malformations (avms) are defects in your vascular system. the vascular system includes arteries, veins, and capillaries. arteries carry blood away from the heart to other organs; veins carry blood back to the heart. capillaries connect the arteries and veins. an avm is a snarled tangle of arteries and veins. they are connected to each other, with no capillaries. that interferes with the blood circulation in an organ. avms can happen anywhere, but they are more common in the brain or spinal cord. most people with brain or spinal cord avms have few, if any, major symptoms. sometimes they can cause seizures or headaches. avms are rare. the cause is not known, but they seem to develop during pregnancy or soon after birth. doctors use imaging tests to detect them. medicines can help with the symptoms from avms. the greatest danger is hemorrhage. treatment for avms can include surgery or focused radiation therapy. because surgery can be risky, you and your doctor need to make a decision carefully. nih: national institute of neurological disorders and stroke

MalaCards: Arteriovenous Malformation, also known as arteriovenous malformations, is related to hereditary hemorrhagic telangiectasia and klippel-trenaunay syndrome. An important gene associated with Arteriovenous Malformation is RASA1 (RAS p21 protein activator (GTPase activating protein) 1), and among its related pathways are Akt Signaling Pathway and VEGF Signaling Pathway. The compounds su5416 and deta nonoate have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are craniofacial and respiratory system.

Wikipedia:65 Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the... more...

Aliases & Classifications for Arteriovenous Malformation

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8Disease Ontology, 20GeneTests, 44NINDS, 10DISEASES, 62UMLS, 45Novoseek, 34MedlinePlus, 58SNOMED-CT, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases


Aliases & Descriptions:

arteriovenous malformation 8 20 44 10 62
arteriovenous malformations 45 34
arteriovenous hemangioma 8
racemose hemangioma 8
racemose aneurysm 8
racemose angioma 8
cirsoid aneurysm 8


External Ids:

Disease Ontology8 DOID:11294
NCIt40 C4297

Related Diseases for Arteriovenous Malformation

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17GeneCards, 18GeneDecks
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Diseases related to Arteriovenous Malformation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 281)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia31.4ENG, ACVRL1
2klippel-trenaunay syndrome30.6FLT4, RASA1
3intracranial hemorrhage in brain cerebrovascular malformations30.5ACVRL1, ENG
4angiodysplasia30.3ACVRL1, ENG
5ischemia30.3ENG, HIF1A, HMOX1
6astrocytoma30.1PTEN, HIF1A, ENG
7malignant glioma30.1ENG, HIF1A, FLT4, PTEN
8telangiectasis30.1ENG, ACVRL1
9hepatopulmonary syndrome30.0HMOX1, ALB
10congenital heart disease29.9HMOX1, ALB, HIF1A
11breast cancer29.8CGB, ENG, FLT4, HIF1A, PTEN
12pulmonary arteriovenous malformation11.2
13cerebritis11.0
14intracranial arteriovenous malformation11.0
15aneurysm10.8
16capillary malformation-arteriovenous malformation syndrome10.6
17mandibular arteriovenous malformation10.6
18endotheliitis10.6
19hepatitis10.6
20pancreatitis10.6
21extracranial arteriovenous malformation10.5
22weber syndrome10.5
23hydrocephalus10.4
24hypertension10.4
25migraine10.4
26cerebral aneurysms10.4
27arteriovenous fistula10.4
28retinitis10.4
29cobb syndrome10.4
30duodenitis10.3
31trigeminal neuralgia10.3
32obstructive hydrocephalus10.3
33papilledema10.3
34maxillary arteriovenous malformation10.3
35moyamoya disease10.3
36cervicitis10.3
37congestive heart failure10.3
38migraine with aura10.3
39vein of galen aneurysm10.3
40cavernous malformation10.3
41duodenal ulcer10.2
42exophthalmos10.2
43siderosis10.2
44brain edema10.2
45hemangioma10.2
46oligodendroglioma10.2
47pulmonary embolism10.2
48heterotaxy10.2
49sturge-weber syndrome10.2
50wyburn mason's syndrome10.2

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



Diseases related to arteriovenous malformation

Symptoms for Arteriovenous Malformation

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Drugs & Therapeutics for Arteriovenous Malformation

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Arteriovenous Malformation

Search NIH Clinical Center for Arteriovenous Malformation

Genetic Tests for Arteriovenous Malformation

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20GeneTests
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Genetic tests related to Arteriovenous Malformation:

id Genetic test Affiliating Genes
1 Arteriovenous Malformations20

Anatomical Context for Arteriovenous Malformation

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33MalaCards
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MalaCards organs/tissues related to Arteriovenous Malformation:

33
Brain, Spinal cord, Heart, Testes, Endothelial, Bone, Lung, Liver, Pancreas, Colon, Placenta, Kidney, Pineal, Occipital lobe, Temporal lobe, Cerebellum, Small intestine, Uterus, Breast, Thyroid, Pituitary

Animal Models for Arteriovenous Malformation or affiliated genes

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37MGI
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Publications for Arteriovenous Malformation

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52PubMed
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Articles related to Arteriovenous Malformation:

(show top 50)    (show all 971)
idTitleAuthorsYear
1
Durable thrombosis in a rat model of arteriovenous malformation treated with radiosurgery and vascular targeting. (24180569)
2014
2
Use of carotid compression in a patient with arteriovenous malformation. (23387461)
2013
3
Transseptal guidewire stabilization for device closure of a large pulmonary arteriovenous malformation. (22806247)
2013
4
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
5
Critical appraisal of endovascular treatment of brain arteriovenous malformation using Onyx in a series of 92 consecutive patients. (23430232)
2013
6
Renal arteriovenous malformation: an unusual cause of recurrent haematuria. (23867881)
2013
7
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. (24080277)
2013
8
Targeting and conformality in arteriovenous malformation radiosurgery. (23258507)
2013
9
Brainstem arteriovenous malformation presenting with dyspraxic handwriting in a young girl. (23911278)
2013
10
Ruptured cerebral arteriovenous malformation presenting as intraventricular hemorrhage. (22481850)
2012
11
Juvenile pilocytic astrocytoma in association with arteriovenous malformation. (22681727)
2012
12
Temporary alopecia after embolization of an arteriovenous malformation. (23031381)
2012
13
Spinal arteriovenous malformation presenting as spastic monoplegic cerebral palsy in a child. (20546106)
2012
14
Influence of the combination of patient age and deep venous drainage on brain arteriovenous malformation recurrence after surgery. (22957526)
2012
15
Jaundice and abdominal pain in a patient with hemobilia secondary to a right hepatic artery subsegmental arteriovenous malformation. (22154418)
2012
16
Laparoscopic management of uterine arteriovenous malformation via occlusion of internal iliac arteries. (23084688)
2012
17
Pelvic arteriovenous malformation treated by superselective transcatheter venous and arterial embolization. (22492471)
2012
18
Microsurgical retrieval of an endovascular microcatheter trapped during Onyx embolization of a cerebral arteriovenous malformation. (21990795)
2011
19
A case of a type II proatlantal artery with arteriovenous malformation. (20549503)
2011
20
CT Angiographic Diagnosis of a Ruptured Intraventricular Arteriovenous Malformation in a Teenager Playing a Video Game. (24059773)
2011
21
Hydrocephalus secondary to hydrodynamic disequilibrium in an adult patient with a choroidal-type arteriovenous malformation. (21696661)
2011
22
Early-stage lung cancer mimicking pulmonary arteriovenous malformation. (21642261)
2011
23
Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis. (20019187)
2010
24
Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. (20202952)
2010
25
Microvascular anatomy of the medial temporal region: part 1: its application to arteriovenous malformation surgery. (20679924)
2010
26
Embolization as the treatment for a life-threatening mandibular arteriovenous malformation. (20186078)
2010
27
Late onset of hypoxemia due to a pulmonary arteriovenous malformation during selective estrogen receptor modulator therapy. (20117453)
2010
28
Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation. (21510465)
2010
29
Endothelial Notch signaling is upregulated in human brain arteriovenous malformations and a mouse model of the disease. (19546852)
2009
30
Brain arteriovenous malformation biology relevant to hemorrhage and implication for therapeutic development. (19064791)
2009
31
Outpatient single-session pulmonary arteriovenous malformation embolization. (19683942)
2009
32
Endothelial molecular changes in a rodent model of arteriovenous malformation. (19035737)
2008
33
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1. (18156574)
2008
34
Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature. (17695398)
2007
35
Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. (16367901)
2006
36
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. (16179574)
2005
37
Segmental cutaneous hemangioma and spinal arteriovenous malformation (Cobb syndrome). Case report and historical perspective. (16235712)
2005
38
Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele. (16136266)
2005
39
Embolization of a duodenal arteriovenous malformation in hereditary hemorrhagic telangiectasia: case report and review of the literature. (14631462)
2003
40
Visualization of pulmonary arteriovenous malformation by three dimensional computed tomography: a case report. (14768481)
2003
41
Successful term pregnancy after selective arterial embolization of symptomatic arteriovenous malformation in the setting of gestational trophoblastic tumor. (12504631)
2003
42
Diagnosis of an intracranial arteriovenous malformation using extracranial carotid Doppler sonography. (11981937)
2002
43
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
44
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
45
Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). (10992384)
2000
46
Ruptured arteriovenous malformation in a boy with Beckwith-Wiedemann syndrome. (10708360)
1999
47
Unusual complications after embolization of a pulmonary arteriovenous malformation. (8625700)
1996
48
Systemic supply to a pulmonary arteriovenous malformation: a relative contraindication to surgery. (3875988)
1985
49
Pulmonary arteriovenous malformation: an uncommon cause for cyanosis in the newborn. (6646888)
1983
50
Orthocyanosis: a sign of pulmonary arteriovenous malformation. (7170687)
1982

Variations for Arteriovenous Malformation

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Expression for genes affiliated with Arteriovenous Malformation

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Arteriovenous Malformation

Search GEO for disease gene expression data for Arteriovenous Malformation.

Pathways for genes affiliated with Arteriovenous Malformation

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50PathCards, 54R&D Systems, 51PharmGKB, 57SinoBiological, 38NCBI BioSystems Database, 5Cell Signaling Technology, 53QIAGEN
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Pathways related to Arteriovenous Malformation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PTEN, FLT4
2
Show member pathways
9.5FLT4, PTEN
3
Show member pathways
VEGFR1 specific signals38
9.1HIF1A, FLT4, RASA1
49.0HIF1A, HMOX1, ENG
59.0HIF1A, PTEN, RASA1
68.6HIF1A, FLT4, HMOX1, ENG
7
Show member pathways
8.3ACVRL1, FLT4, PTEN, RASA1, HIF1A

Compounds for genes affiliated with Arteriovenous Malformation

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 24HMDB
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Compounds related to Arteriovenous Malformation according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1su5416459.8HIF1A, FLT4
2deta nonoate459.8HIF1A, HMOX1
3cobalt chloride459.8HMOX1, HIF1A
4trolox459.7HMOX1, HIF1A
5sunitinib45 51 1111.7FLT4, HIF1A
6tgf beta1459.6PTEN, ACVRL1, ENG
7noxa459.6HIF1A, PTEN
8auranofin29 45 61 1112.6ALB, HMOX1
9streptavidin459.5HIF1A, PTEN
10Bilirubin249.5HMOX1, ALB
11crcs459.5HIF1A, PTEN
12isoflurane51 45 1111.4HMOX1, ALB
13deferoxamine45 1110.4HMOX1, HIF1A
14gsno459.3HIF1A, HMOX1, PTEN
15s-nitroso-n-acetylpenicillamine459.3HMOX1, HIF1A
16agar459.3ENG, HIF1A, PTEN
17candesartan45 51 29 1112.3ALB, HIF1A
18mg 13245 6110.3PTEN, HIF1A, HMOX1
19quercetin45 61 24 1112.3PTEN, HMOX1, HIF1A
20arsenite45 2410.3HMOX1, HIF1A, PTEN
21vincristine45 51 1111.2CGB, PTEN, HIF1A
22cyclophosphamide45 51 1111.2HIF1A, PTEN, CGB
23hyaluronic acid45 2410.2ENG, ALB, PTEN
24paclitaxel45 51 1111.1FLT4, HIF1A, PTEN
25rosiglitazone29 45 51 24 1113.1PTEN, ALB, HMOX1
26etoposide45 51 61 1112.1CGB, PTEN, HIF1A
27matrigel459.0ENG, HIF1A, FLT4, CGB
28oligonucleotide459.0ENG, ACVRL1, PTEN, HIF1A
29paraffin459.0HIF1A, ENG, FLT4, PTEN
30dexamethasone45 51 29 1112.0HMOX1, HIF1A, ENG, FLT4
31doxorubicin45 51 1110.9HMOX1, HIF1A, PTEN, ENG
32rapamycin458.9FLT4, PTEN, HIF1A
33ly294002458.9HIF1A, HMOX1, FLT4, PTEN
34threonine458.9ACVRL1, PTEN, HIF1A, ENG
35arginine458.9HIF1A, HMOX1, RASA1, PTEN
36methotrexate51 45 1110.8ALB, CGB, HIF1A
37cisplatin45 51 61 1111.8CGB, HMOX1, PTEN, HIF1A
38serine458.6ENG, HIF1A, PTEN, ACVRL1, RASA1
39histamine45 29 2410.6HIF1A, ALB, HMOX1
40ascorbic acid45 249.6HMOX1, ENG, HIF1A, ALB
41retinoic acid45 249.6HIF1A, PTEN, FLT4, HMOX1
42tyrosine458.5HIF1A, RASA1, PTEN, FLT4, ENG
43oxygen45 249.5HIF1A, PTEN, ENG, FLT4, HMOX1
44lactate458.5ALB, CGB, HIF1A, HMOX1
45testosterone45 61 24 1111.4ALB, PTEN, HIF1A, CGB
46estrogen458.0HIF1A, PTEN, FLT4, HMOX1, ENG, CGB
47glucose457.7HIF1A, CGB, ALB, PTEN
48vegf457.7HIF1A, FLT4, ACVRL1, HMOX1, ENG, CGB
49alanine457.7HMOX1, CGB, RASA1, HIF1A, PTEN, ALB
50cysteine457.6HMOX1, ALB, PTEN, CGB, HIF1A, ENG

GO Terms for genes affiliated with Arteriovenous Malformation

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16Gene Ontology
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Biological processes related to Arteriovenous Malformation according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell adhesionGO:00716210.0RASA1, ACVRL1
2positive regulation of BMP signaling pathwayGO:03051310.0ENG, ACVRL1
3lymphangiogenesisGO:00194610.0FLT4, ACVRL1
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.0ACVRL1, ENG
5negative regulation of endothelial cell proliferationGO:00193710.0ACVRL1, ENG
6negative regulation of focal adhesion assemblyGO:0518959.9ACVRL1, PTEN
7vasculogenesisGO:0015709.8RASA1, ENG
8retina vasculature development in camera-type eyeGO:0612989.8HIF1A, ACVRL1
9regulation of blood pressureGO:0082179.8ACVRL1, HMOX1
10BMP signaling pathwayGO:0305099.8ENG, ACVRL1
11regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:0436199.7HMOX1, HIF1A
12positive regulation vascular endothelial growth factor productionGO:0105759.7FLT4, HIF1A
13heart loopingGO:0019479.6ENG, HIF1A
14negative regulation of cell migrationGO:0303369.6ENG, ACVRL1, PTEN
15intracellular signal transductionGO:0355569.5ENG, HMOX1, RASA1
16positive regulation of endothelial cell proliferationGO:0019389.4HIF1A, FLT4, ACVRL1
17negative regulation of neuron apoptotic processGO:0435249.4HMOX1, RASA1, HIF1A
18cellular iron ion homeostasisGO:0068799.3HIF1A, HMOX1
19response to nutrientGO:0075849.1ALB, PTEN
20angiogenesisGO:0015258.9HMOX1, ACVRL1, PTEN, HIF1A
21signal transductionGO:0071658.9HIF1A, ACVRL1, RASA1, CGB
22negative regulation of apoptotic processGO:0430668.4ALB, FLT4, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:0481859.8ACVRL1, ENG
2transforming growth factor beta-activated receptor activityGO:0050249.8ENG, ACVRL1
3transforming growth factor beta bindingGO:0504319.7ACVRL1, ENG
4protein kinase bindingGO:0199018.7HIF1A, PTEN, ACVRL1
5enzyme bindingGO:0198998.2ALB, HIF1A, PTEN, HMOX1
6protein bindingGO:0055157.1RASA1, ALB, ACVRL1, ENG, FLT4, HIF1A

Products for genes affiliated with Arteriovenous Malformation

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Sources for Arteriovenous Malformation

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet