MCID: ART005
MIFTS: 53

Arteriovenous Malformation malady

Genetic diseases (common) category

Aliases & Classifications for Arteriovenous Malformation

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Aliases & Descriptions for Arteriovenous Malformation:

Name: Arteriovenous Malformation 8 20 43 10
Arteriovenous Malformations 44 32
Arteriovenous Hemangioma 8 61
Racemose Hemangioma 8
 
Racemose Aneurysm 8
Racemose Angioma 8
Cirsoid Aneurysm 8


Classifications:



External Ids:

Disease Ontology8 DOID:11294
NCIt39 C4297

Summaries for Arteriovenous Malformation

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MedlinePlus:32 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 based summary: Arteriovenous Malformation, also known as arteriovenous malformations, is related to cerebral arteriovenous malformation and hereditary hemorrhagic telangiectasia. 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.

Disease Ontology:8 An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.

Wikipedia:64 Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the... more...

Related Diseases for Arteriovenous Malformation

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

(show top 50)    (show all 288)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral arteriovenous malformation32.0ENG, ACVRL1
2hereditary hemorrhagic telangiectasia31.8ENG, ACVRL1
3klippel-trenaunay-weber syndrome30.7RASA1, FLT4
4angiodysplasia30.7ENG, ACVRL1
5pulmonary hypertension30.6ACVRL1, HIF1A
6telangiectasis30.4ACVRL1, ENG
7astrocytoma30.1HIF1A, PTEN, ENG
8hepatopulmonary syndrome30.1HMOX1, ALB
9ischemia30.1ENG, HMOX1, HIF1A
10glioblastoma29.9HIF1A, PTEN, FLT4, ENG
11malignant glioma29.9HIF1A, PTEN, FLT4, ENG
12congenital heart disease29.7HMOX1, ALB, HIF1A
13lung cancer29.4HIF1A, PTEN, FLT4, ENG, CGB
14breast cancer29.4CGB, ENG, FLT4, PTEN, HIF1A
15pulmonary arteriovenous malformation11.2
16cerebritis11.0
17intracranial arteriovenous malformation11.0
18aneurysm10.8
19capillary malformation-arteriovenous malformation10.7
20mandibular arteriovenous malformation10.7
21hepatitis10.6
22pancreatitis10.6
23endotheliitis10.6
24extracranial arteriovenous malformation10.6
25weber syndrome10.5
26hydrops fetalis10.5FLT4
27arteriovenous fistula10.5
28hydrocephalus10.4
29cerebral aneurysms10.4
30polyposis, juvenile intestinal10.4PTEN
31migraine10.4
32trigeminal neuralgia10.4
33retinitis10.4
34cobb syndrome10.4
35maxillary arteriovenous malformation10.4
36telangiectasia, hereditary hemorrhagic, type 110.4
37cervicitis10.4
38vein of galen aneurysm10.4
39telangiectasia, hereditary hemorrhagic, type 210.3
40moyamoya disease10.3
41hemangioma10.3
42duodenitis10.3
43obstructive hydrocephalus10.3
44papilledema10.3
45segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.3
46vascular cancer10.3FLT4, ENG
47juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.3
48congestive heart failure10.3
49colitis10.3
50cavernous malformation10.3

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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Drug clinical trials:

Search ClinicalTrials for Arteriovenous Malformation

Search NIH Clinical Center for Arteriovenous Malformation

Genetic Tests for Arteriovenous Malformation

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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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MalaCards organs/tissues related to Arteriovenous Malformation:

31
Brain, Spinal cord, Heart, Testes, Endothelial, Bone, Lung, Liver, Pancreas, Colon, Placenta, Cortex, Cerebellum, Small intestine, Kidney, Thyroid, Breast, Uterus, Occipital lobe, Pineal, Pituitary

Animal Models for Arteriovenous Malformation or affiliated genes

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Publications for Arteriovenous Malformation

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Articles related to Arteriovenous Malformation:

(show top 50)    (show all 1060)
idTitleAuthorsYear
1
Immediate Reconstruction after Combined Embolization and Resection of Orbital Arteriovenous Malformation. (25902385)
2015
2
The predictive value of magnetic resonance imaging in evaluating intracranial arteriovenous malformation obliteration after stereotactic radiosurgery. (25839923)
2015
3
Concomitant intramedullary arteriovenous malformation and a vertebral hemangioma of cervical spine discovered by a pathologic fracture during bicycle accident. (25351839)
2014
4
Durable thrombosis in a rat model of arteriovenous malformation treated with radiosurgery and vascular targeting. (24180569)
2014
5
Use of carotid compression in a patient with arteriovenous malformation. (23387461)
2013
6
Transseptal guidewire stabilization for device closure of a large pulmonary arteriovenous malformation. (22806247)
2013
7
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and embolic strokes treated successfully with video-assisted thoracoscopic resection. (23676596)
2013
8
Critical appraisal of endovascular treatment of brain arteriovenous malformation using Onyx in a series of 92 consecutive patients. (23430232)
2013
9
Renal arteriovenous malformation: an unusual cause of recurrent haematuria. (23867881)
2013
10
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. (24080277)
2013
11
Ruptured cerebral arteriovenous malformation presenting as intraventricular hemorrhage. (22481850)
2012
12
Juvenile pilocytic astrocytoma in association with arteriovenous malformation. (22681727)
2012
13
Temporary alopecia after embolization of an arteriovenous malformation. (23031381)
2012
14
Spinal arteriovenous malformation presenting as spastic monoplegic cerebral palsy in a child. (20546106)
2012
15
Influence of the combination of patient age and deep venous drainage on brain arteriovenous malformation recurrence after surgery. (22957526)
2012
16
Jaundice and abdominal pain in a patient with hemobilia secondary to a right hepatic artery subsegmental arteriovenous malformation. (22154418)
2012
17
Laparoscopic management of uterine arteriovenous malformation via occlusion of internal iliac arteries. (23084688)
2012
18
Pelvic arteriovenous malformation treated by superselective transcatheter venous and arterial embolization. (22492471)
2012
19
Large hemangiopericytoma associated with arteriovenous malformations and dural arteriovenous fistulae. (22251512)
2011
20
Microsurgical retrieval of an endovascular microcatheter trapped during Onyx embolization of a cerebral arteriovenous malformation. (21990795)
2011
21
A case of a type II proatlantal artery with arteriovenous malformation. (20549503)
2011
22
CT Angiographic Diagnosis of a Ruptured Intraventricular Arteriovenous Malformation in a Teenager Playing a Video Game. (24059773)
2011
23
Hydrocephalus secondary to hydrodynamic disequilibrium in an adult patient with a choroidal-type arteriovenous malformation. (21696661)
2011
24
Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis. (20019187)
2010
25
Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. (20202952)
2010
26
Microvascular anatomy of the medial temporal region: part 1: its application to arteriovenous malformation surgery. (20679924)
2010
27
Embolization as the treatment for a life-threatening mandibular arteriovenous malformation. (20186078)
2010
28
Late onset of hypoxemia due to a pulmonary arteriovenous malformation during selective estrogen receptor modulator therapy. (20117453)
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
Case report: alterations in bispectral index following absolute alcohol embolization in a patient with intracranial arteriovenous malformation. (17975236)
2007
36
Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. (16367901)
2006
37
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. (16179574)
2005
38
Segmental cutaneous hemangioma and spinal arteriovenous malformation (Cobb syndrome). Case report and historical perspective. (16235712)
2005
39
Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele. (16136266)
2005
40
Embolization of a duodenal arteriovenous malformation in hereditary hemorrhagic telangiectasia: case report and review of the literature. (14631462)
2003
41
Visualization of pulmonary arteriovenous malformation by three dimensional computed tomography: a case report. (14768481)
2003
42
Successful term pregnancy after selective arterial embolization of symptomatic arteriovenous malformation in the setting of gestational trophoblastic tumor. (12504631)
2003
43
Diagnosis of an intracranial arteriovenous malformation using extracranial carotid Doppler sonography. (11981937)
2002
44
Pulmonary arteriovenous malformation: Characterization with time-resolved ultrafast 3D MR angiography. (11241822)
2001
45
Primary transcatheter treatment of congenital pulmonary arteriovenous malformation causing cyanosis of the newborn. (10816279)
2000
46
Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). (10992384)
2000
47
Ruptured arteriovenous malformation in a boy with Beckwith-Wiedemann syndrome. (10708360)
1999
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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Search GEO for disease gene expression data for Arteriovenous Malformation.

Pathways for genes affiliated with Arteriovenous Malformation

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Pathways related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FLT4, PTEN
2
Show member pathways
9.5FLT4, PTEN
3
Show member pathways
VEGFR1 specific signals36
9.1HIF1A, FLT4, RASA1
49.0ENG, HMOX1, HIF1A
59.0HIF1A, PTEN, RASA1
68.6ENG, HMOX1, FLT4, HIF1A
7
Show member pathways
8.3HIF1A, PTEN, FLT4, ACVRL1, RASA1

Compounds for genes affiliated with Arteriovenous Malformation

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Compounds related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1su5416449.8HIF1A, FLT4
2deta nonoate449.8HIF1A, HMOX1
3cobalt chloride449.8HMOX1, HIF1A
4trolox449.7HMOX1, HIF1A
5sunitinib44 50 1111.7FLT4, HIF1A
6tgf beta1449.6PTEN, ACVRL1, ENG
7noxa449.6HIF1A, PTEN
8auranofin28 44 60 1112.6ALB, HMOX1
9streptavidin449.5HIF1A, PTEN
10Bilirubin249.5HMOX1, ALB
11crcs449.5HIF1A, PTEN
12isoflurane50 44 1111.4HMOX1, ALB
13deferoxamine44 1110.4HMOX1, HIF1A
14gsno449.3HIF1A, HMOX1, PTEN
15s-nitroso-n-acetylpenicillamine449.3HMOX1, HIF1A
16agar449.3ENG, HIF1A, PTEN
17candesartan44 50 28 1112.3ALB, HIF1A
18mg 13244 6010.3PTEN, HIF1A, HMOX1
19quercetin44 60 24 1112.3PTEN, HMOX1, HIF1A
20arsenite44 2410.3HMOX1, HIF1A, PTEN
21vincristine44 50 1111.2CGB, PTEN, HIF1A
22cyclophosphamide44 50 1111.2HIF1A, PTEN, CGB
23hyaluronic acid44 2410.2ENG, ALB, PTEN
24paclitaxel44 50 1111.1FLT4, HIF1A, PTEN
25rosiglitazone28 44 50 24 1113.1PTEN, ALB, HMOX1
26etoposide44 50 60 1112.1CGB, PTEN, HIF1A
27matrigel449.0ENG, HIF1A, FLT4, CGB
28oligonucleotide449.0ENG, ACVRL1, PTEN, HIF1A
29paraffin449.0HIF1A, ENG, FLT4, PTEN
30dexamethasone44 50 28 1112.0HMOX1, HIF1A, ENG, FLT4
31doxorubicin44 50 1110.9HMOX1, HIF1A, PTEN, ENG
32rapamycin448.9FLT4, PTEN, HIF1A
33ly294002448.9HIF1A, HMOX1, FLT4, PTEN
34threonine448.9ACVRL1, PTEN, HIF1A, ENG
35arginine448.9HIF1A, HMOX1, RASA1, PTEN
36methotrexate50 44 1110.8ALB, CGB, HIF1A
37cisplatin44 50 60 1111.8CGB, HMOX1, PTEN, HIF1A
38serine448.6ENG, HIF1A, PTEN, ACVRL1, RASA1
39histamine44 28 2410.6HIF1A, ALB, HMOX1
40ascorbic acid44 249.6HMOX1, ENG, HIF1A, ALB
41retinoic acid44 249.6HIF1A, PTEN, FLT4, HMOX1
42tyrosine448.5HIF1A, RASA1, PTEN, FLT4, ENG
43oxygen44 249.5HIF1A, PTEN, ENG, FLT4, HMOX1
44lactate448.5ALB, CGB, HIF1A, HMOX1
45testosterone44 60 24 1111.4ALB, PTEN, HIF1A, CGB
46estrogen448.0HIF1A, PTEN, FLT4, HMOX1, ENG, CGB
47glucose447.7HIF1A, CGB, ALB, PTEN
48vegf447.7HIF1A, FLT4, ACVRL1, HMOX1, ENG, CGB
49alanine447.7HMOX1, CGB, RASA1, HIF1A, PTEN, ALB
50cysteine447.6HMOX1, ALB, PTEN, CGB, HIF1A, ENG

GO Terms for genes affiliated with Arteriovenous Malformation

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell adhesionGO:000716210.0RASA1, ACVRL1
2positive regulation of BMP signaling pathwayGO:003051310.0ENG, ACVRL1
3lymphangiogenesisGO:000194610.0FLT4, ACVRL1
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.0ACVRL1, ENG
5negative regulation of endothelial cell proliferationGO:000193710.0ACVRL1, ENG
6negative regulation of focal adhesion assemblyGO:00518959.9ACVRL1, PTEN
7vasculogenesisGO:00015709.8RASA1, ENG
8retina vasculature development in camera-type eyeGO:00612989.8HIF1A, ACVRL1
9regulation of blood pressureGO:00082179.8ACVRL1, HMOX1
10BMP signaling pathwayGO:00305099.8ENG, ACVRL1
11regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:00436199.7HMOX1, HIF1A
12positive regulation vascular endothelial growth factor productionGO:00105759.7FLT4, HIF1A
13heart loopingGO:00019479.6ENG, HIF1A
14negative regulation of cell migrationGO:00303369.6ENG, ACVRL1, PTEN
15intracellular signal transductionGO:00355569.5ENG, HMOX1, RASA1
16positive regulation of endothelial cell proliferationGO:00019389.4HIF1A, FLT4, ACVRL1
17negative regulation of neuron apoptotic processGO:00435249.4HMOX1, RASA1, HIF1A
18cellular iron ion homeostasisGO:00068799.3HIF1A, HMOX1
19response to nutrientGO:00075849.1ALB, PTEN
20angiogenesisGO:00015258.9HMOX1, ACVRL1, PTEN, HIF1A
21signal transductionGO:00071658.9HIF1A, ACVRL1, RASA1, CGB
22negative regulation of apoptotic processGO:00430668.4ALB, FLT4, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:00481859.8ACVRL1, ENG
2transforming growth factor beta-activated receptor activityGO:00050249.8ENG, ACVRL1
3transforming growth factor beta bindingGO:00504319.7ENG, ACVRL1
4protein kinase bindingGO:00199018.7HIF1A, PTEN, ACVRL1
5enzyme bindingGO:00198998.2HMOX1, ALB, PTEN, HIF1A
6protein bindingGO:00055157.1ENG, RASA1, ALB, ACVRL1, FLT4, PTEN

Sources for Arteriovenous Malformation

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet