MCID: ART005
MIFTS: 63

Arteriovenous Malformation

Categories: Genetic diseases, Cancer diseases

Aliases & Classifications for Arteriovenous Malformation

MalaCards integrated aliases for Arteriovenous Malformation:

Name: Arteriovenous Malformation 12 51 29 14
Arteriovenous Malformations 24 52 41
Arteriovenous Hemangioma 12 69
Congenital Arteriovenous Malformation 69
Cerebral Arteriovenous Malformations 24
Arteriovenous Malformations Cerebral 52
Racemose Hemangioma 12
Racemose Aneurysm 12
Cirsoid Aneurysm 12
Racemose Angioma 12
Avm 24

Classifications:



External Ids:

Disease Ontology 12 DOID:11294
ICD10 33 I77.0
NCIt 47 C2882
UMLS 69 C0334533

Summaries for Arteriovenous Malformation

MedlinePlus : 41 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 acute pancreatitis and pericarditis, and has symptoms including angina pectoris, back pain and chest pain. An important gene associated with Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Dexmedetomidine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related phenotypes are Decreased viability and cardiovascular system

Disease Ontology : 12 An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.

NINDS : 51 Arteriovenous malformations (AVMs) are abnormal, snarled tangles of blood vessels that cause multiple irregular connections between the arteries and veins.  These malformations most often occur in the spinal cord and in any part of the brain or on its surface, but can develop elsewhere in the body. AVMs can damage the brain and spinal cord by reducing the amount of oxygen reaching neurological tissues, bleeding into surrounding tissue (hemorrhage) that can cause stroke or brain damage, and by compressing or displacing parts of the brain or spinal cord.  Many people with an AVM experience few, if any, significant symptoms, which can include headache, weakness, seizures, pain, and problems with speech, vision, or movement.  Most often AVMs are congenital, but they can appear sporadically.  In some cases the AVM may be inherited, but it is more likely that other inherited conditions increase the risk of having an AVM.  The malformations tend to be discovered only incidentally, usually during treatment for an unrelated disorder or at autopsy.

Wikipedia : 72 Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the... more...

Related Diseases for Arteriovenous Malformation

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

(show top 50) (show all 312)
id Related Disease Score Top Affiliating Genes
1 acute pancreatitis 29.3 IL6 MMP3 PTEN VEGFA
2 pericarditis 28.7 ACVRL1 BMPR2 MMP9 VEGFA
3 capillary malformation-arteriovenous malformation 12.5
4 pulmonary arteriovenous malformation 12.3
5 extracranial arteriovenous malformation 12.3
6 mandibular arteriovenous malformation 12.1
7 maxillary arteriovenous malformation 12.1
8 facial arteriovenous malformation 12.0
9 frontonasal arteriovenous malformation 12.0
10 intracranial hemorrhage in brain cerebrovascular malformations 12.0
11 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.9
12 vein of galen aneurysm 11.9
13 cobb syndrome 11.5
14 hereditary hemorrhagic telangiectasia 11.4
15 pulmonary arteriovenous fistulas 11.2
16 wyburn mason's syndrome 11.1
17 telangiectasia, hereditary hemorrhagic, type 1 11.0
18 telangiectasia, hereditary hemorrhagic, type 5 11.0
19 telangiectasia, hereditary hemorrhagic, type 2 11.0
20 pulmonary arterio-veinous fistula 11.0
21 clove syndrome, somatic 10.9
22 dural sinus malformation 10.9
23 noonan syndrome 1 10.8
24 hemorrhage, intracerebral 10.8
25 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.8
26 superficial siderosis of the central nervous system 10.8
27 cerebral cavernous malformations-1 10.8
28 vascular malformation 10.8
29 paroxysmal hemicrania 10.8
30 pulmonary branches stenosis 10.8 ACVRL1 ENG
31 salivary gland adenoid cystic carcinoma 10.7 ENG VEGFA
32 vitamin d-dependent rickets type ii 10.7 ACVRL1 ENG
33 asphyxia neonatorum 10.7 IL6 RASA1
34 ribbing disease 10.6 MMP3 MMP9
35 hepatic vascular disease 10.6 MMP9 VEGFA
36 cerebritis 10.6
37 extragonadal germ cell cancer 10.6 RASA1 VEGFA
38 male reproductive organ cancer 10.6 MMP9 VEGFA
39 drug rash with eosinophilia and systemic symptoms 10.6 IL6 MMP9
40 kleptomania 10.6 MMP3 MMP9
41 childhood endodermal sinus tumor 10.6 MMP3 MMP9
42 erythema elevatum diutinum 10.6 IL6 VEGFA
43 necrobiosis lipoidica 10.6 MMP3 MMP9
44 plasmacytoma 10.5 PTEN VEGFA
45 pyruvate kinase deficiency, muscle type 10.5 TEK VEGFA
46 welander distal myopathy, swedish type 10.5 ACVRL1 ENG RASA1
47 immunodeficiency 27b, mycobacteriosis, ad 10.5 MMP3 MMP9
48 tooth erosion 10.5 ACVRL1 ENG VEGFA
49 ulnar neuropathy 10.5 MMP9 VEGFA
50 bipolar i disorder 10.5 IL6 VEGFA

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



Diseases related to Arteriovenous Malformation

Symptoms & Phenotypes for Arteriovenous Malformation

UMLS symptoms related to Arteriovenous Malformation:


angina pectoris, back pain, chest pain, edema, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.4 BMPR2
2 Decreased viability GR00221-A-1 9.4 ACVRL1 BMPR2
3 Decreased viability GR00221-A-2 9.4 ACVRL1
4 Decreased viability GR00221-A-3 9.4 ACVRL1 BMPR2 RASA1 TEK
5 Decreased viability GR00221-A-4 9.4 ACVRL1 BMPR2
6 Decreased viability GR00301-A 9.4 BMPR2
7 Decreased viability GR00381-A-1 9.4 RASA1
8 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.26 BMPR2 EPHB4 TEK ACVRL1

MGI Mouse Phenotypes related to Arteriovenous Malformation:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.33 EFNB2 ENG EPHB4 IL6 ITGB8 MMP9
2 growth/size/body region MP:0005378 10.27 ACVRL1 BMPR2 VEGFA EFNB2 ENG EPHB4
3 embryo MP:0005380 10.21 PTEN RASA1 TEK VEGFA ACVRL1 BMPR2
4 homeostasis/metabolism MP:0005376 10.2 ACVRL1 BMPR2 EFNB2 ENG IL6 ITGB8
5 digestive/alimentary MP:0005381 10.18 ACVRL1 EFNB2 ENG IL6 ITGB8 MMP9
6 hematopoietic system MP:0005397 10.18 ACVRL1 BMPR2 EFNB2 ENG IL6 MMP3
7 mortality/aging MP:0010768 10.18 ACVRL1 BMPR2 EFNB2 ENG EPHB4 IL6
8 muscle MP:0005369 10.11 ACVRL1 BMPR2 EFNB2 ENG EPHB4 IL6
9 nervous system MP:0003631 10.1 ACVRL1 BMPR2 EFNB2 ENG IL6 ITGB8
10 immune system MP:0005387 10.09 BMPR2 EFNB2 EPHB4 IL6 MMP3 MMP9
11 craniofacial MP:0005382 10.01 ACVRL1 EFNB2 ENG ITGB8 RASA1 VEGFA
12 normal MP:0002873 9.86 VEGFA ACVRL1 BMPR2 EFNB2 ENG ITGB8
13 renal/urinary system MP:0005367 9.76 ACVRL1 BMPR2 EFNB2 EPHB4 IL6 MMP9
14 respiratory system MP:0005388 9.56 ACVRL1 BMPR2 EFNB2 ENG IL6 MMP9
15 skeleton MP:0005390 9.23 BMPR2 EFNB2 IL6 MMP3 MMP9 PTEN

Drugs & Therapeutics for Arteriovenous Malformation

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

(show top 50) (show all 151)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Ethanol Approved Phase 4 64-17-5 702
6
Heparin Approved, Investigational Phase 4,Phase 2 9005-49-6 772 46507594
7
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
8
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
9
Tranexamic Acid Approved Phase 4 1197-18-8 5526
10
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
11
Ethiodized oil Approved Phase 4 8008-53-5
12 Adrenergic Agents Phase 4
13 Adrenergic Agonists Phase 4
14 Adrenergic alpha-2 Receptor Agonists Phase 4
15 Adrenergic alpha-Agonists Phase 4
16 Analgesics Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Anesthetics Phase 4
19 Anesthetics, General Phase 4
20 Anesthetics, Intravenous Phase 4
21 Central Nervous System Depressants Phase 4
22 Hypnotics and Sedatives Phase 4
23 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
24 Peripheral Nervous System Agents Phase 4
25 Anesthetics, Local Phase 4
26 Anti-Arrhythmia Agents Phase 4
27 Diuretics, Potassium Sparing Phase 4
28 Sodium Channel Blockers Phase 4
29 Anticoagulants Phase 4,Phase 2
30 calcium heparin Phase 4,Phase 2
31 Calcium, Dietary Phase 4,Phase 2,Phase 1
32 Fibrinolytic Agents Phase 4,Phase 2
33 Vasodilator Agents Phase 4
34 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Antifibrinolytic Agents Phase 4
36 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Anti-Infective Agents, Local Phase 4
38 Coagulants Phase 4
39 Hemostatics Phase 4
40 Pharmaceutical Solutions Phase 4,Phase 2
41 Adjuvants, Anesthesia Phase 4
42 Analgesics, Opioid Phase 4
43 Narcotics Phase 4
44 Ferrosoferric Oxide Phase 4
45 Hematinics Phase 4
46 Parenteral Nutrition Solutions Phase 4
47
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
48
Bevacizumab Approved, Investigational Phase 3,Phase 1,Phase 2 216974-75-3
49
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177
50
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 174)

id Name Status NCT ID Phase Drugs
1 Dexmedetomidine and Propofol As Sole Sedative Agent for Patients Undergoing Arteriovenous Fistula Surgery Unknown status NCT02447796 Phase 4 Propofol;Dexmedetomidine
2 2% Lidocaine Plus 0.5% Bupivacaine Versus 0.5% Bupivacaine in Brachial Block for Creation of Arteriovenous (AV) Fistula Unknown status NCT00993746 Phase 4 Bupivacaine plus lidocaine;Bupivacaine 30 ml
3 A Prospective Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
4 Effects of Heparin on Arteriovenous Fistula Patency Completed NCT02493504 Phase 4 Heparin
5 The Use of Glyceryl Trinitrate Patches in Arteriovenous Fistulas Completed NCT01685710 Phase 4 GTN patch;placebo comparator
6 Use of Topical Tranexamic Acid and Bacitracin in Dialysis Patients Completed NCT02106962 Phase 4 Topical Tranexamic Acid 5% with bacitracin
7 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery Recruiting NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
8 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Recruiting NCT02478346 Phase 4 Fluorescein Sodium
9 Assessment of the Embolization of Neurovascular Lesions Using the Penumbra Smart Coil Recruiting NCT02729740 Phase 4
10 Ferumoxytol Enhanced Magnetic Resonance Angiography in Chronic Kidney Disease Recruiting NCT02997046 Phase 4
11 Apollo™ Onyx™ Delivery Micro Catheter Post Market Safety Study Active, not recruiting NCT02378883 Phase 4
12 Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Not yet recruiting NCT02079818 Phase 4
13 Evaluation of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. Not yet recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
14 Functional Magnetic Resonance Imagine(fMRI)Navigation in Intracranial Arteriovenous Malformation Surgery Unknown status NCT01758211 Phase 3
15 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
16 A Randomized Trial of Unruptured Brain AVMs Completed NCT00389181 Phase 3
17 Safety and Efficacy Study of the Venous Window Needle Guide to Access Arteriovenous (AV)Fistulae Completed NCT01471041 Phase 2, Phase 3
18 Percutaneous Less Invasive AV Fistula for Vascular Access in ESRD Completed NCT02363972 Phase 3
19 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries Recruiting NCT02829190 Phase 3
20 Paclitaxel-coated Balloon Angioplasty Versus Standard Angioplasty for the Treatment of Stenosis of Arteriovenous Fistula Recruiting NCT02753998 Phase 3
21 Primary Patency in Post-angioplasty Dysfunctional Arteriovenous Fistula in Renal Dialysis: Paclitaxel-releasing PTA Balloon Catheter vs PTA Balloon Recruiting NCT02565953 Phase 3
22 A Study of Vonapanitase (PRT-201) Administered Immediately After Radiocephalic Arteriovenous Fistula(AVF) Creation in Patients With Chronic Kidney Disease (CKD) (PATENCY-2) Recruiting NCT02414841 Phase 3 vonapanitase;Placebo
23 Preoperative Arteriovenous Fistula Simulation Study (ShuntSimulationStudy) Recruiting NCT02453412 Phase 2, Phase 3
24 Safety and Efficacy of the Sirolimus-Eluting Collagen Implant to Assess AV Fistula Outcomes in Patients on Hemodialysis Recruiting NCT02513303 Phase 3 Sirolimus
25 Study Comparing Lutonix AV Drug Coated Balloon vs Standard Balloon for Treatment of Dysfunctional AV Fistulae Active, not recruiting NCT02440022 Phase 3
26 A Study of PRT-201 Administered Immediately After Radiocephalic Arteriovenous Fistula(AVF) Creation in Patients With Chronic Kidney Disease (CKD) (PATENCY-1) Active, not recruiting NCT02110901 Phase 3 PRT-201;Placebo
27 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). Not yet recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
28 Arteriovenous Fistula: Conventional Angioplasty vs Drug Eluting Balloon-assisted Maturation Intervention Clinical Trial Not yet recruiting NCT03068845 Phase 3
29 Zero Ischemia Laparoscopic Partial Nephrectomy Withdrawn NCT02634385 Phase 2, Phase 3
30 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
31 Study Comparing Onyx and TRUFILL in Brain Arteriovenous Malformations (AVMs) Completed NCT00857662 Phase 2
32 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
33 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
34 An Efficacy and Safety Study of SRM003 in the Treatment of Subjects Undergoing Creation of an Arteriovenous Fistula to Facilitate Hemodialysis Access Completed NCT01806545 Phase 2
35 A Study of PRT-201 Administered Immediately After Arteriovenous Fistula Creation in Patients With Chronic Kidney Disease Completed NCT01305824 Phase 2 PRT-201;Placebo;PRT-201
36 A Phase 1-2 Study of PRT-201 Administered in Chronic Kidney Disease (CKD) Patients Completed NCT00679991 Phase 1, Phase 2 PRT-201;PRT-201
37 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
38 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults Recruiting NCT02797366 Phase 2
39 A Safety and Efficacy Trial of Circumferential Anal Canal Radiofrequency Ablation for High-Grade Anal Intraepithelial Neoplasia Using the BARRX™ Anorectal Wand Recruiting NCT03302858 Phase 2
40 Delivery of Inhibitors of Lysyl Oxidase (LysoLox) on Serial Angioplasty and Time to Restenosis Recruiting NCT03106948 Phase 2 Placebo;Ascorbic Acid;Cuprimine Oral Product
41 Vascular Protective Effect of Rosuvastatin in Arteriovenous Fistula Recruiting NCT01863914 Phase 2 Rosuvastatin
42 Determine the Safety/Efficacy of Ticagrelor for Maintaining Patency of Arterio-Venous Fistulae Created for Hemodialysis Recruiting NCT02335099 Phase 1, Phase 2 ticagrelor;Placebo
43 High-intensity Atorvastatin for Arteriovenous Fistula Failure (HAFF): A Feasibility Pilot Study Not yet recruiting NCT03188978 Phase 1, Phase 2 Atorvastatin 40mg
44 Efficacy and Local Tolerability of Topically Applied Heparin on the Suitability of Newly Constructed Primary Arteriovenous Fistulas in Patients Planned for Haemodialysis Terminated NCT01382888 Phase 2 Heparin 2,400 IU /ml Cutaneous Spray;Placebo Cutaneous Spray
45 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
46 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
47 Phase I Drug Trial for S/E of Marimastat in Disabling Malformations When no Other Options. Completed NCT00261391 Phase 1 Marimastat
48 Bevacizumab Therapy for Brain Arteriovenous Malformation Recruiting NCT02314377 Phase 1 Bevacizumab
49 Clinical Translation of a Novel Albumin-Binding PET Radiotracer 68Ga-NEB Recruiting NCT02496013 Phase 1 68Ga-NEB
50 Autologous Adipose Derived Mesenchymal Stem Cells (AMSC) in Reducing Hemodialysis Arteriovenous Fistula Failure Recruiting NCT02808208 Phase 1

Search NIH Clinical Center for Arteriovenous Malformation

Genetic Tests for Arteriovenous Malformation

Genetic tests related to Arteriovenous Malformation:

id Genetic test Affiliating Genes
1 Arteriovenous Malformation 29
2 Arteriovenous Malformations 24

Anatomical Context for Arteriovenous Malformation

MalaCards organs/tissues related to Arteriovenous Malformation:

39
Brain, Spinal Cord, Heart, Testes, Kidney, Endothelial, Bone

Publications for Arteriovenous Malformation

Articles related to Arteriovenous Malformation:

(show top 50) (show all 1247)
id Title Authors Year
1
Brain infarction after embolization of a pulmonary arteriovenous malformation with metallic coils. ( 28377085 )
2017
2
Meticulous observations essential before and after coil embolization of pulmonary arteriovenous malformation; lessons learned from two case. ( 28761454 )
2017
3
An unusual combination of patent foramen ovale with pulmonary arteriovenous malformation in a young patient with stroke. ( 28681775 )
2017
4
A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. ( 28188364 )
2017
5
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. ( 28190454 )
2017
6
Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management. ( 28558378 )
2017
7
Hepatopulmonary syndrome with large pulmonary arteriovenous malformations: CT findings with emphasis on its association with a mosaic pattern of the lung parenchyma. ( 28480722 )
2017
8
Combined Transsylvian Transventricular Approach to a Hippocampal Arteriovenous Malformation: 3-Dimensional Operative Video. ( 28931259 )
2017
9
Transarterial Embolization and Transmucosal Sclerotherapy That Led to Successful Deliveries in a Patient With Symptomatic Arteriovenous Malformation of the Tongue. ( 28857995 )
2017
10
Unilateral moyamoya disease with co-existing arteriovenous malformation. ( 28084278 )
2017
11
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. ( 28687708 )
2017
12
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. ( 28730721 )
2017
13
Cervical Arteriovenous Malformation Causing Horner's Syndrome. ( 28219497 )
2017
14
Intraoperative neuromonitoring during brain arteriovenous malformation microsurgeries and postoperative dysfunction: A retrospective follow-up study. ( 28953623 )
2017
15
Amplatzer vascular plug in occlusion of a pulmonary arteriovenous malformation. ( 28492337 )
2017
16
Non-contrast-enhanced magnetic resonance angiography using time-spatial labeling inversion pulse technique for differentiation between pulmonary varix and arteriovenous malformation. ( 28828102 )
2017
17
Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation. ( 28405554 )
2017
18
Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients. ( 28746925 )
2017
19
Vulvar Arteriovenous Malformation in a 16-Year-Old Girl. ( 28838863 )
2017
20
The 'radical combined approach' in cerebral arteriovenous malformation treatment: Technical note. ( 28830640 )
2017
21
Urticarial reaction following endovascular embolization of an orbital arteriovenous malformation (AVM) with n-butyl cyanoacrylate (nBCA) glue. ( 28893128 )
2017
22
Arteriovenous malformation and thyroid metastasis from underlying renal cell carcinoma, an unusual presentation of malignancy: A case report. ( 28521439 )
2017
23
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. ( 28297145 )
2017
24
Arteriovenous Malformation of Face: A Challenge to Anesthesiologists. ( 28928590 )
2017
25
Pulmonary Arteriovenous Malformation Detected by Three-dimensional Computed Tomographic Angiography. ( 28400192 )
2017
26
Surgery versus percutaneous transcatheter embolization for pulmonary arteriovenous malformation: Analysis of a national inpatient database in Japan. ( 28629839 )
2017
27
Antithrombotic Use Predicts Recanalization of Embolized PulmonaryA Arteriovenous Malformations in Hereditary HemorrhagicA Telangiectasia. ( 28927739 )
2017
28
Rupture of a pulmonary arteriovenous malformation: a diagnosis not to be missed. ( 28123003 )
2017
29
Giant Chest Wall Arteriovenous Malformation: A Case Report and Literature Review. ( 28890056 )
2017
30
Pulmonary arteriovenous malformations complicated by splenic infarction and abscess. ( 28736615 )
2017
31
De Novo Arteriovenous Malformation after Aneurysm Clipping. ( 28840086 )
2017
32
Pulmonary Arteriovenous Malformation Causing Systemic Hypoxemia in Early Infancy. ( 28373920 )
2017
33
In vivo imaging of endothelial cell adhesion molecule expression after radiosurgery in an animal model of arteriovenous malformation. ( 28949989 )
2017
34
Bilateral Thalamic Edema from Coexisting Choroid Plexus Arteriovenous Malformation and Sinus Thrombosis: Case Report. ( 28820225 )
2017
35
Spinal Arteriovenous Malformation Associated with Parkes Weber Syndrome: Report of Two Cases and Literature Review. ( 28645597 )
2017
36
Pure Endovascular Management of an Arteriovenous Malformation and an Aneurysm Both Supplied by Anterio-Inferior Cerebellar Artery: A Case Report and a Review of Literature. ( 28824538 )
2017
37
Ultra-short echo time magnetic resonance imaging for detection of pulmonary arteriovenous malformation recanalization after coil embolization: a case report and a phantom study. ( 28944082 )
2017
38
Fontan Revision with Y-Graft in a Patient with Unilateral Pulmonary Arteriovenous Malformation. ( 28593158 )
2017
39
A case of an intractable duodenal ulcer associated with a pancreatic arteriovenous malformation. ( 28484196 )
2017
40
Successful presurgical endovascular management of venous sinus thrombosis associated with high-grade cerebral arteriovenous malformation: A case report. ( 28893127 )
2017
41
Clinical outcomes and radiosurgical considerations for pediatric arteriovenous malformation: influence of clinical features on obliteration rate. ( 28871374 )
2017
42
Transcatheter Occlusion of a Giant Pulmonary Arteriovenous Malformation in a 1-year-old Child Using Amplatzer Vascular Plugs and Interlocking Detachable Coils. ( 28584799 )
2017
43
A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment. ( 28936439 )
2017
44
Ultrasound-guided high-intensity focused ultrasound ablation for treating uterine arteriovenous malformation. ( 28856856 )
2017
45
Ascertaining the Value of Noninvasive Measures Obtained Using Color Duplex Ultrasound and Central Aortic Pressure Monitoring During the Management of Cerebral Arteriovenous Malformation Resection: Protocol for a Prospective, Case Control Pilot Study. ( 28860105 )
2017
46
Comprehensive Treatment of Primary Orbital Arteriovenous Malformation. ( 28841594 )
2017
47
Regarding "Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia". ( 27501797 )
2016
48
Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity? ( 26743915 )
2016
49
Early versus late arteriovenous malformation responders after stereotactic radiosurgery: an international multicenter study. ( 27662534 )
2016
50
Duodenal arteriovenous malformation: endosonographic diagnosis and coil embolization. ( 27875847 )
2016

Variations for Arteriovenous Malformation

Expression for Arteriovenous Malformation

Search GEO for disease gene expression data for Arteriovenous Malformation.

Pathways for Arteriovenous Malformation

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

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 ACVRL1 BMPR2 EPHB4 IL6 ITGB8 PTEN
2
Show member pathways
13.45 EPHB4 IL6 ITGB8 MMP3 MMP9 RASA1
3
Show member pathways
13.14 IL6 MMP3 MMP9 RASA1 TEK VEGFA
4
Show member pathways
13.12 ACVRL1 BMPR2 EPHB4 IL6 ITGB8 PTEN
5 12.46 IL6 MMP9 PTEN VEGFA
6 12.44 IL6 ITGB8 PTEN TEK VEGFA
7
Show member pathways
12.31 EFNB2 EPHB4 MMP9 RASA1 VEGFA
8 12.27 BMPR2 MMP9 PTEN VEGFA
9 11.99 IL6 MMP9 VEGFA
10 11.96 BMPR2 PTEN VEGFA
11 11.95 BMPR2 EFNB2 EPHB4 RASA1
12 11.91 EFNB2 EPHB4 TEK
13 11.89 BMPR2 MMP9 VEGFA
14 11.81 EFNB2 IL6 MMP9
15 11.75 IL6 MMP3 MMP9
16 11.7 IL6 TEK VEGFA
17 11.68 IL6 MMP3 MMP9 VEGFA
18 11.41 IL6 MMP3 TEK VEGFA
19
Show member pathways
11.06 IL6 MMP3 MMP9 VEGFA
20 10.96 EFNB2 ENG MMP3 MMP9 TEK
21 10.81 MMP9 TEK VEGFA

GO Terms for Arteriovenous Malformation

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.1 ACVRL1 BMPR2 ENG ITGB8 TEK VEGFA

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

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 ENG IL6 ITGB8 PTEN VEGFA
2 regulation of cell shape GO:0008360 9.83 IL6 RASA1 VEGFA
3 negative regulation of cell migration GO:0030336 9.8 ACVRL1 ENG PTEN
4 positive regulation of protein phosphorylation GO:0001934 9.8 ENG MMP9 TEK VEGFA
5 negative regulation of apoptotic process GO:0043066 9.8 IL6 MMP9 PTEN RASA1 TEK VEGFA
6 BMP signaling pathway GO:0030509 9.78 ACVRL1 BMPR2 ENG
7 vasculogenesis GO:0001570 9.72 ENG RASA1 VEGFA
8 positive regulation of endothelial cell migration GO:0010595 9.71 BMPR2 TEK VEGFA
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 ACVRL1 BMPR2 ENG
10 outflow tract septum morphogenesis GO:0003148 9.67 BMPR2 ENG
11 sprouting angiogenesis GO:0002040 9.67 ENG TEK
12 positive regulation of focal adhesion assembly GO:0051894 9.67 TEK VEGFA
13 positive regulation of angiogenesis GO:0045766 9.67 ACVRL1 ENG TEK VEGFA
14 artery morphogenesis GO:0048844 9.66 ENG VEGFA
15 cardiac muscle tissue development GO:0048738 9.66 BMPR2 PTEN
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 ACVRL1 BMPR2
17 macrophage differentiation GO:0030225 9.65 MMP9 VEGFA
18 endothelial cell proliferation GO:0001935 9.64 BMPR2 TEK
19 activin receptor signaling pathway GO:0032924 9.64 ACVRL1 BMPR2
20 endocardial cushion morphogenesis GO:0003203 9.63 ACVRL1 ENG
21 negative regulation of focal adhesion assembly GO:0051895 9.62 ACVRL1 PTEN
22 negative regulation of DNA biosynthetic process GO:2000279 9.62 ACVRL1 BMPR2
23 lymphangiogenesis GO:0001946 9.61 ACVRL1 BMPR2
24 positive regulation of BMP signaling pathway GO:0030513 9.61 ACVRL1 BMPR2 ENG
25 artery development GO:0060840 9.6 ACVRL1 BMPR2
26 retina vasculature development in camera-type eye GO:0061298 9.59 ACVRL1 BMPR2
27 dorsal aorta morphogenesis GO:0035912 9.58 ACVRL1 ENG
28 venous blood vessel morphogenesis GO:0048845 9.58 EFNB2 ENG
29 blood vessel morphogenesis GO:0048514 9.58 ACVRL1 EFNB2 RASA1
30 positive regulation of axon extension involved in axon guidance GO:0048842 9.57 BMPR2 VEGFA
31 lymphatic endothelial cell differentiation GO:0060836 9.56 ACVRL1 BMPR2
32 ephrin receptor signaling pathway GO:0048013 9.56 EFNB2 EPHB4 MMP9 RASA1
33 venous blood vessel development GO:0060841 9.51 ACVRL1 BMPR2
34 endocardial cushion to mesenchymal transition GO:0090500 9.48 ACVRL1 ENG
35 cell migration involved in sprouting angiogenesis GO:0002042 9.33 EFNB2 EPHB4 VEGFA
36 positive regulation of endothelial cell proliferation GO:0001938 9.26 ACVRL1 BMPR2 TEK VEGFA
37 angiogenesis GO:0001525 9.1 ACVRL1 ENG EPHB4 PTEN TEK VEGFA

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

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.73 EFNB2 IL6 ITGB8 RASA1
2 transforming growth factor beta binding GO:0050431 9.4 ACVRL1 ENG
3 platelet-derived growth factor receptor binding GO:0005161 9.37 PTEN VEGFA
4 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 ACVRL1 BMPR2
5 activin binding GO:0048185 9.26 ACVRL1 ENG
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
7 BMP binding GO:0036122 8.96 BMPR2 ENG
8 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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