MCID: ART005
MIFTS: 66

Arteriovenous Malformation

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Arteriovenous Malformation

MalaCards integrated aliases for Arteriovenous Malformation:

Name: Arteriovenous Malformation 12 77 30 6 15
Arteriovenous Malformations 56 44
Arteriovenous Hemangioma 12 74
Congenital Arteriovenous Malformation 74
Racemose Hemangioma 12
Racemose Aneurysm 12
Cirsoid Aneurysm 12
Racemose Angioma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11294
NCIt 51 C2882
SNOMED-CT 69 11071001 14156004
ICD10 34 I77.0

Summaries for Arteriovenous Malformation

MedlinePlus : 44 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 pulmonary arteriovenous malformation and arteriovenous malformations of the brain, and has symptoms including seizures, tremor and angina pectoris. An important gene associated with Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are ERK Signaling and Akt Signaling. The drugs Dexmedetomidine and Sufentanil have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related phenotypes are Decreased viability and Decreased viability

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

NINDS : 55 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 : 77 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 432)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 34.5 ACVRL1 ENG
2 arteriovenous malformations of the brain 33.5 ACVRL1 EFNB2 ENG EPHB4 RASA1 VEGFA
3 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 32.4 ACVRL1 ENG RASA1
4 weber syndrome 30.9 ACVRL1 ENG RASA1
5 telangiectasis 30.8 ACVRL1 BMPR2 ENG VEGFA
6 ischemic colitis 30.6 MMP9 VEGFA
7 hemangioma 30.4 ANGPT2 PTEN VEGFA
8 varicose veins 30.3 MMP3 MMP9 VEGFA
9 hepatopulmonary syndrome 30.2 ACVRL1 BMPR2 VEGFA
10 pyogenic granuloma 30.0 ANGPT2 VEGFA
11 pulmonary hypertension, primary, 1 30.0 ACVRL1 BMPR2 ENG
12 twin-to-twin transfusion syndrome 29.9 ANGPT2 ENG
13 angiodysplasia 29.9 ACVRL1 ANGPT2 ENG VEGFA
14 grade iii astrocytoma 29.8 MMP9 PTEN VEGFA
15 arteries, anomalies of 29.5 ACVRL1 BMPR2 MMP9 VEGFA
16 vascular disease 29.0 ACVRL1 BMPR2 ENG MMP3 MMP9 VEGFA
17 capillary malformation-arteriovenous malformation 1 12.8
18 capillary malformation-arteriovenous malformation 2 12.7
19 extracranial arteriovenous malformation 12.6
20 mandibular arteriovenous malformation 12.5
21 maxillary arteriovenous malformation 12.5
22 facial arteriovenous malformation 12.3
23 frontonasal arteriovenous malformation 12.3
24 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.3
25 cobb syndrome 11.8
26 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.7
27 pulmonary arteriovenous fistulas 11.7
28 hereditary hemorrhagic telangiectasia 11.7
29 wyburn-mason syndrome 11.6
30 telangiectasia, hereditary hemorrhagic, type 1 11.6
31 pulmonary arterio-veinous fistula 11.6
32 telangiectasia, hereditary hemorrhagic, type 2 11.5
33 vein of galen aneurysm 11.5
34 hemorrhage, intracerebral 11.5
35 cerebral cavernous malformations 11.4
36 cauda equina syndrome 11.4
37 foix-alajouanine syndrome 11.4
38 telangiectasia, hereditary hemorrhagic, type 5 11.3
39 dural sinus malformation 11.2
40 noonan syndrome 1 11.1
41 telangiectasia, hereditary hemorrhagic, type 4 11.1
42 paroxysmal hemicrania 11.1
43 superficial siderosis of the central nervous system 11.1
44 monosomy 13q34 11.0
45 thrombosis 10.6
46 rere-related disorders 10.5
47 cerebral aneurysms 10.4
48 trigeminal neuralgia 10.4
49 headache 10.4
50 arteriovenous fistula 10.4

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:


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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.62 BMPR2
2 Decreased viability GR00221-A-1 9.62 ACVRL1 BMPR2 EPHB4
3 Decreased viability GR00221-A-2 9.62 ACVRL1 EPHB4
4 Decreased viability GR00221-A-3 9.62 ACVRL1 BMPR2 RASA1
5 Decreased viability GR00221-A-4 9.62 ACVRL1 BMPR2 EPHB4 RASA1
6 Decreased viability GR00301-A 9.62 BMPR2 EPHB4
7 Decreased viability GR00381-A-1 9.62 RASA1
8 Decreased viability GR00402-S-2 9.62 ACVRL1 BMPR2 EPHB4 RASA1

MGI Mouse Phenotypes related to Arteriovenous Malformation:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG EPHB4
2 growth/size/body region MP:0005378 10.19 ACVRL1 BMPR2 EFNB2 ENG EPHB4 ITGB8
3 digestive/alimentary MP:0005381 10.18 ACVRL1 ANGPT2 EFNB2 ENG ITGB8 MMP9
4 embryo MP:0005380 10.16 ACVRL1 BMPR2 EFNB2 ENG EPHB4 ITGB8
5 homeostasis/metabolism MP:0005376 10.16 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG ITGB8
6 mortality/aging MP:0010768 10.14 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG EPHB4
7 immune system MP:0005387 10.09 ANGPT2 BMPR2 EFNB2 EPHB4 MMP3 MMP9
8 hematopoietic system MP:0005397 10.08 ACVRL1 BMPR2 EFNB2 ENG MMP3 MMP9
9 muscle MP:0005369 10.02 ACVRL1 BMPR2 EFNB2 ENG EPHB4 MMP9
10 nervous system MP:0003631 10.02 ACVRL1 BMPR2 EFNB2 ENG ITGB8 MMP3
11 craniofacial MP:0005382 10.01 ACVRL1 EFNB2 ENG ITGB8 RASA1 VEGFA
12 normal MP:0002873 9.8 ACVRL1 BMPR2 EFNB2 ENG ITGB8 PTEN
13 renal/urinary system MP:0005367 9.7 ACVRL1 BMPR2 EFNB2 EPHB4 MMP9 PTEN
14 respiratory system MP:0005388 9.56 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG MMP9
15 skeleton MP:0005390 9.17 BMPR2 EFNB2 MMP3 MMP9 PTEN RASA1

Drugs & Therapeutics for Arteriovenous Malformation

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

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Not Applicable 113775-47-6 68602 5311068
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
5
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
6
Ethanol Approved Phase 4,Phase 2 64-17-5 702
7
Heparin Approved, Investigational Phase 4,Phase 2,Not Applicable 9005-49-6 772 46507594
8
Tranexamic Acid Approved Phase 4 1197-18-8 5526
9
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
10
Nitroglycerin Approved, Investigational Phase 4,Not Applicable 55-63-0 4510
11
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
12 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
13
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
14
Calcium Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 7440-70-2 271
15 Central Nervous System Depressants Phase 4,Not Applicable
16 Peripheral Nervous System Agents Phase 4,Not Applicable
17 Analgesics, Opioid Phase 4
18 Adrenergic Agonists Phase 4,Not Applicable
19 Adrenergic alpha-2 Receptor Agonists Phase 4,Not Applicable
20 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
21 Anesthetics Phase 4,Not Applicable
22 Anesthetics, Intravenous Phase 4
23 Narcotics Phase 4
24 Adrenergic alpha-Agonists Phase 4,Not Applicable
25 Adjuvants, Anesthesia Phase 4
26 Adrenergic Agents Phase 4,Not Applicable
27 Analgesics Phase 4,Not Applicable
28 Anesthetics, General Phase 4
29 Analgesics, Non-Narcotic Phase 4,Not Applicable
30 Hypnotics and Sedatives Phase 4,Not Applicable
31 Diuretics, Potassium Sparing Phase 4,Not Applicable
32 Sodium Channel Blockers Phase 4,Not Applicable
33 Anti-Arrhythmia Agents Phase 4,Not Applicable
34 Anesthetics, Local Phase 4,Not Applicable
35 Fibrinolytic Agents Phase 4,Phase 2,Not Applicable
36 calcium heparin Phase 4,Phase 2,Not Applicable
37 Calcium, Dietary Phase 4,Phase 2,Not Applicable
38 Anticoagulants Phase 4,Phase 2,Not Applicable
39 Hemostatics Phase 4
40 Antifibrinolytic Agents Phase 4
41 Anti-Infective Agents, Local Phase 4
42 Coagulants Phase 4
43 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
45 Vasodilator Agents Phase 4,Not Applicable
46 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
47 Anesthetics, Inhalation Phase 4
48
Paclitaxel Approved, Vet_approved Phase 3,Not Applicable 33069-62-4 36314
49
Bevacizumab Approved, Investigational Phase 3,Phase 1,Phase 2 216974-75-3
50
Everolimus Approved Phase 3,Phase 2 159351-69-6 6442177 70789204

Interventional clinical trials:

(show top 50) (show all 213)
# Name Status NCT ID Phase Drugs
1 Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Unknown status NCT02079818 Phase 4
2 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery Unknown status NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
3 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Unknown status NCT02478346 Phase 4 Fluorescein Sodium
4 Dexmedetomidine and Propofol As Sole Sedative Agent for Patients Undergoing Arteriovenous Fistula Surgery Unknown status NCT02447796 Phase 4 Propofol;Dexmedetomidine
5 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
6 A Prospective Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
7 Effects of Heparin on Arteriovenous Fistula Patency Completed NCT02493504 Phase 4 Heparin
8 Use of Topical Tranexamic Acid and Bacitracin in Dialysis Patients Completed NCT02106962 Phase 4 Topical Tranexamic Acid 5% with bacitracin
9 The Use of Glyceryl Trinitrate Patches in Arteriovenous Fistulas Completed NCT01685710 Phase 4 GTN patch;placebo comparator
10 Evaluation of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. Recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
11 The Feasibility of Propofol TCI in Hemodialysis Patients Undergoing Arteriovenous Shunt Surgery Recruiting NCT03311581 Phase 4 Propofol
12 Assessment of the Embolization of Neurovascular Lesions Using the Penumbra Smart Coil Active, not recruiting NCT02729740 Phase 4
13 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Terminated NCT02028325 Phase 4 Fluorescein Sodium
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 Primary Patency in Post-angioplasty Dysfunctional Arteriovenous Fistula in Renal Dialysis: Paclitaxel-releasing PTA Balloon Catheter vs PTA Balloon Completed NCT02565953 Phase 3
18 Study Comparing Lutonix AV Drug Coated Balloon vs Standard Balloon for Treatment of Dysfunctional AV Fistulae Completed NCT02440022 Phase 3
19 A Study of PRT-201 Administered Immediately After Radiocephalic Arteriovenous Fistula(AVF) Creation in Patients With Chronic Kidney Disease (CKD) (PATENCY-1) Completed NCT02110901 Phase 3 PRT-201;Placebo
20 Percutaneous Less Invasive AV Fistula for Vascular Access in ESRD Completed NCT02363972 Phase 3
21 Safety and Efficacy Study of the Venous Window Needle Guide to Access Arteriovenous (AV)Fistulae Completed NCT01471041 Phase 2, Phase 3
22 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries Recruiting NCT02829190 Phase 3
23 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). Recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
24 Paclitaxel-coated Balloon Angioplasty Versus Standard Angioplasty for the Treatment of Stenosis of Arteriovenous Fistula Recruiting NCT02753998 Phase 3
25 Trial to Evaluate the Sirolimus-Eluting Collagen Implant on AV Fistula Outcomes Recruiting NCT02513303 Phase 3 Sirolimus
26 A Study of Vonapanitase (PRT-201) Administered Immediately After Radiocephalic Arteriovenous Fistula(AVF) Creation in Patients With Chronic Kidney Disease (CKD) (PATENCY-2) Active, not recruiting NCT02414841 Phase 3 vonapanitase;Placebo
27 Preoperative Arteriovenous Fistula Simulation Study (ShuntSimulationStudy) Enrolling by invitation NCT02453412 Phase 2, Phase 3
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 Vorapaxar Study for Maturation of AV Fistulae for Hemodialysis Access Completed NCT02475837 Phase 2 Vorapaxar sulfate;Placebo
35 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
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 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
38 Vascular Protective Effect of Rosuvastatin in Arteriovenous Fistula Completed NCT01863914 Phase 2 Rosuvastatin
39 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
40 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations Recruiting NCT03691870 Phase 2
41 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults Recruiting NCT02797366 Phase 2
42 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
43 High-intensity Atorvastatin for Arteriovenous Fistula Failure (HAFF): A Feasibility Pilot Study Recruiting NCT03188978 Phase 1, Phase 2 Atorvastatin 40mg
44 Delivery of Inhibitors of Lysyl Oxidase (LysoLox) on Serial Angioplasty and Time to Restenosis Recruiting NCT03106948 Phase 2 Placebo;Ascorbic Acid;Cuprimine Oral Product
45 Determine the Safety/Efficacy of Ticagrelor for Maintaining Patency of Arterio-Venous Fistulae Created for Hemodialysis Recruiting NCT02335099 Phase 1, Phase 2 ticagrelor;Placebo
46 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
47 Clinical Translation of a Novel Albumin-Binding PET Radiotracer 68Ga-NEB Unknown status NCT02496013 Phase 1 68Ga-NEB
48 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
49 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
50 Phase I Drug Trial for S/E of Marimastat in Disabling Malformations When no Other Options. Completed NCT00261391 Phase 1 Marimastat

Search NIH Clinical Center for Arteriovenous Malformation

Genetic Tests for Arteriovenous Malformation

Genetic tests related to Arteriovenous Malformation:

# Genetic test Affiliating Genes
1 Arteriovenous Malformation 30

Anatomical Context for Arteriovenous Malformation

MalaCards organs/tissues related to Arteriovenous Malformation:

42
Brain, Spinal Cord, Heart, Testes, Endothelial, Kidney, Pancreas

Publications for Arteriovenous Malformation

Articles related to Arteriovenous Malformation:

(show top 50) (show all 5716)
# Title Authors Year
1
Synchronous cerebral arteriovenous malformation and lung adenocarcinoma carcinoma brain metastases: A case study and literature review. ( 30638546 )
2019
2
Epithelioid angiosarcoma arising from a frontoparietal arteriovenous malformation. ( 30520560 )
2019
3
De Novo Formation of a Direct Arteriovenous Fistula Involving an Anterior Communicating Artery Aneurysm in a Remote Site from a Prior Ruptured Arteriovenous Malformation in a Pediatric Patient: Case Report and Review of Literature. ( 30878757 )
2019
4
In Reply to "Surgery for Intractable Seizures After Successful Radiosurgery of Cerebral Arteriovenous Malformation". ( 30481623 )
2019
5
Paraplegia and Myelopathy Due to Caval Thrombosis and Pelvic Arteriovenous Malformation, Reversed by Embolization. ( 30580810 )
2019
6
Retrograde transvenous balloon-assisted Onyx embolization of mandibular arteriovenous malformation after hemorrhage. ( 30581522 )
2019
7
Transvenous embolization of thalamic arteriovenous malformation under transient cardiac standstill. ( 30611173 )
2019
8
Ruptured cerebral arteriovenous malformation during fifth pregnancy: A case report and literature review. ( 30611953 )
2019
9
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation. ( 30635911 )
2019
10
Pulmonary arteriovenous malformation revealed by a chronic cyanosis. ( 30650027 )
2019
11
Arterial-Spin Labeling MRI Identifies Residual Cerebral Arteriovenous Malformation Following Stereotactic Radiosurgery Treatment. ( 30658138 )
2019
12
Usefulness of high-resolution three-dimensional multi-fusion medical imaging for preoperative planning in patients with cerebral arteriovenous malformation. ( 30677580 )
2019
13
Intervening nidal brain parenchyma and risk of radiation-induced changes after radiosurgery for brain arteriovenous malformation: a study using unsupervised machine learning algorithm. ( 30677586 )
2019
14
A Case of a Small Intestinal Arteriovenous Malformation Diagnosed by Double-Balloon Enteroscopy Preoperatively. ( 30681745 )
2019
15
Cerebral arteriovenous malformation venous stenosis is associated with hemodynamic changes at the draining vein-venous sinus junction. ( 30696602 )
2019
16
Recurrence of Pulmonary Arteriovenous Malformation With Non-tuberculous Mycobacteria Infection Caused by Perfusion from the Pulmonary Artery and Bronchial Artery After Coil Embolization. ( 30713314 )
2019
17
Surgery for Intractable Seizures After Successful Radiosurgery of Cerebral Arteriovenous Malformation. ( 30716879 )
2019
18
Subarachnoid hemorrhage due to flow-related dissection of the posterior inferior cerebellar artery associated with a distal arteriovenous malformation. ( 30721771 )
2019
19
Staged embolization and excision of an arteriovenous malformation involving the eyelid and orbit. ( 30732507 )
2019
20
Pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia. ( 30739085 )
2019
21
Angiopoietin-2 Inhibition Rescues Arteriovenous Malformation in a Smad4 Hereditary Hemorrhagic Telangiectasia Mouse Model. ( 30744395 )
2019
22
Vessel wall enhancement of a ruptured intra-nidal aneurysm in a brain arteriovenous malformation. ( 30764685 )
2019
23
Repair of a large iliac vein aneurysm secondary to a high-flow pelvic arteriovenous malformation under deep hypothermic circulatory arrest. ( 30771833 )
2019
24
Volume-Staged CyberKnife Stereotactic Radiosurgery for Treatment of Drug Resistant Epilepsy for a Spetzler-Martin Grade V Arteriovenous Malformation: A Case Report and Review of the Literature. ( 30797935 )
2019
25
Pulmonary Hypertension that Developed During Treatment for Hepatopulmonary Syndrome and Pulmonary Arteriovenous Malformation. ( 30799344 )
2019
26
Intraoperative Ultrasound Navigation with Doppler Function to Guide Arteriovenous Malformation Resection: 3-Dimensional Operative Video. ( 30839079 )
2019
27
Embolization of a Complex Facial Arteriovenous Malformation, Balloon-Assisted Flow Arrest, and Controlled n-BCA Injection with Dextrose Push Technique: 2-Dimensional Operative Video. ( 30851033 )
2019
28
Congenital Renal Arteriovenous Malformation: A Rare but Treatable Cause of Hypertension. ( 30852581 )
2019
29
Acute urinary retention associated with spinal arteriovenous malformation. ( 30860911 )
2019
30
Interval Thrombosis of Arteriovenous Malformation Draining Vein after Stereotactic Radiosurgery. ( 30862599 )
2019
31
Microsurgical Ligation of Residual Fistulous Arteriovenous Shunt From a Radicular Artery to a Thoracic Arteriovenous Malformation: 2-Dimensional Operative Video. ( 30873520 )
2019
32
A pulmonary arteriovenous malformation treated with percutaneous intervention. ( 30874504 )
2019
33
Transarterial Onyx embolization of residual AVM after surgical resection. ( 30878741 )
2019
34
De Novo Development of a Cerebral Arteriovenous Malformation: Case Report and Review of the Literature. ( 30885864 )
2019
35
Hydrocephalus due to a cavernoma-like lesion of an obliterated cerebral arteriovenous malformation treated by embolization and radiosurgery. ( 30885872 )
2019
36
Neurophysiological Monitoring During Arteriovenous Malformation Embolization. ( 30888012 )
2019
37
Unilateral Remission of Psoriasis Associated with a Spinal Arteriovenous Malformation. ( 30896775 )
2019
38
Intrarenal arteriovenous malformation following flexible ureterorenoscopy and holmium laser stone fragmentation: report of a case. ( 30902085 )
2019
39
Imaging and Laparoscopic Findings in a Patient with Congenital Uterine Arteriovenous Malformation. ( 29574196 )
2019
40
Results of Surgery for Low-Grade Brain Arteriovenous Malformation Resection by Early Career Neurosurgeons: An Observational Study. ( 29608734 )
2019
41
Is Temporary Proximal Artery Clipping in Arteriovenous Malformation Surgery Safe? ( 29634078 )
2019
42
Resection of Right Frontal Arteriovenous Malformation: 3-Dimensional Operative Video. ( 29660051 )
2019
43
The Application of the Novel Grading Scale (Lawton-Young Grading System) to Predict the Outcome of Brain Arteriovenous Malformation. ( 29733392 )
2019
44
Fertility, Pregnancy, and Clinical Outcomes after Uterine Arteriovenous Malformation Management. ( 29772406 )
2019
45
Total Laparoscopic Hysterectomy for Endometriosis and an Arteriovenous Malformation. ( 29772407 )
2019
46
Cerebellar arteriovenous malformation presenting with recurrent positional vertigo. ( 30377820 )
2019
47
A tricky case of pancreatic arteriovenous malformation: the role of endoscopic ultrasound in the diagnosis of this rare condition. ( 30469148 )
2019
48
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis. ( 30523548 )
2019
49
Predictors of epilepsy presentation in unruptured brain arteriovenous malformations: a quantitative evaluation of location and radiomics features on T2 weighted imaging. ( 30771548 )
2019
50
Diagnostic yield of capsule endoscopy for small bowel arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. ( 30705963 )
2019

Variations for Arteriovenous Malformation

ClinVar genetic disease variations for Arteriovenous Malformation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance rs1332140763 GRCh38 Chromosome 2, 120988558: 120988558
2 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance rs1332140763 GRCh37 Chromosome 2, 121746134: 121746134
3 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance rs1554079046 GRCh38 Chromosome 5, 90675320: 90675320
4 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance rs1554079046 GRCh37 Chromosome 5, 89971137: 89971137
5 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh37 Chromosome 16, 1270816: 1270816
6 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh38 Chromosome 16, 1220816: 1220816

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ACVRL1 ANGPT2 BMPR2 EPHB4 ITGB8 PTEN
2
Show member pathways
13.06 ACVRL1 ANGPT2 BMPR2 EPHB4 ITGB8 PTEN
3
Show member pathways
12.48 ITGB8 MMP3 MMP9 PLOD2
4 12.1 BMPR2 MMP9 PTEN VEGFA
5
Show member pathways
11.9 EFNB2 EPHB4 MMP9 RASA1 VEGFA
6 11.86 BMPR2 PTEN VEGFA
7 11.82 ANGPT2 EFNB2 EPHB4
8 11.78 BMPR2 MMP9 VEGFA
9 11.71 BMPR2 EFNB2 EPHB4 RASA1
10 11.6 MMP3 MMP9 VEGFA
11
Show member pathways
11.23 MMP3 MMP9 VEGFA
12
Show member pathways
10.99 ACVRL1 BMPR2
13 10.98 EFNB2 EPHB4
14 10.97 ANGPT2 EFNB2 ENG MMP3 MMP9
15 10.93 ANGPT2 ENG
16 10.89 MMP9 VEGFA

GO Terms for Arteriovenous Malformation

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 ACVRL1 BMPR2 ENG ITGB8 VEGFA
2 receptor complex GO:0043235 8.92 ACVRL1 BMPR2 ENG EPHB4

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.91 MMP9 PTEN RASA1 VEGFA
2 negative regulation of gene expression GO:0010629 9.9 ACVRL1 ENG ITGB8 VEGFA
3 positive regulation of gene expression GO:0010628 9.89 ENG ITGB8 NOS1AP PTEN VEGFA
4 negative regulation of cell migration GO:0030336 9.83 ACVRL1 ENG PTEN
5 BMP signaling pathway GO:0030509 9.79 ACVRL1 BMPR2 ENG
6 positive regulation of endothelial cell proliferation GO:0001938 9.74 ACVRL1 BMPR2 VEGFA
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.69 ACVRL1 BMPR2 ENG
8 branching involved in blood vessel morphogenesis GO:0001569 9.67 ENG VEGFA
9 ephrin receptor signaling pathway GO:0048013 9.67 EFNB2 EPHB4 MMP9 RASA1
10 outflow tract septum morphogenesis GO:0003148 9.66 BMPR2 ENG
11 artery morphogenesis GO:0048844 9.66 ENG VEGFA
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 ACVRL1 BMPR2
13 cardiac muscle tissue development GO:0048738 9.65 BMPR2 PTEN
14 activin receptor signaling pathway GO:0032924 9.64 ACVRL1 BMPR2
15 endocardial cushion morphogenesis GO:0003203 9.64 ACVRL1 ENG
16 macrophage differentiation GO:0030225 9.63 MMP9 VEGFA
17 negative regulation of focal adhesion assembly GO:0051895 9.63 ACVRL1 PTEN
18 negative regulation of DNA biosynthetic process GO:2000279 9.62 ACVRL1 BMPR2
19 lymphangiogenesis GO:0001946 9.62 ACVRL1 BMPR2
20 vasculogenesis GO:0001570 9.62 ENG ITGB8 RASA1 VEGFA
21 positive regulation of BMP signaling pathway GO:0030513 9.61 ACVRL1 BMPR2 ENG
22 artery development GO:0060840 9.59 ACVRL1 BMPR2
23 dorsal aorta morphogenesis GO:0035912 9.58 ACVRL1 ENG
24 retina vasculature development in camera-type eye GO:0061298 9.58 ACVRL1 BMPR2
25 cell migration involved in sprouting angiogenesis GO:0002042 9.58 EFNB2 EPHB4 VEGFA
26 positive regulation of axon extension involved in axon guidance GO:0048842 9.56 BMPR2 VEGFA
27 response to hypoxia GO:0001666 9.56 ACVRL1 ANGPT2 PLOD2 VEGFA
28 venous blood vessel morphogenesis GO:0048845 9.55 EFNB2 ENG
29 positive regulation of angiogenesis GO:0045766 9.55 ACVRL1 ANGPT2 ENG ITGB8 VEGFA
30 lymphatic endothelial cell differentiation GO:0060836 9.54 ACVRL1 BMPR2
31 regulation of neuroinflammatory response GO:0150077 9.52 MMP3 MMP9
32 venous blood vessel development GO:0060841 9.48 ACVRL1 BMPR2
33 endocardial cushion to mesenchymal transition GO:0090500 9.46 ACVRL1 ENG
34 angiogenesis GO:0001525 9.43 ACVRL1 ANGPT2 ENG EPHB4 PTEN VEGFA
35 blood vessel morphogenesis GO:0048514 8.92 ACVRL1 ANGPT2 EFNB2 RASA1

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.71 ANGPT2 EFNB2 ITGB8 RASA1
2 transforming growth factor beta binding GO:0050431 9.43 ACVRL1 ENG
3 platelet-derived growth factor receptor binding GO:0005161 9.37 PTEN VEGFA
4 transforming growth factor beta-activated receptor activity GO:0005024 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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