Aliases & Classifications for Arteriovenous Malformation

MalaCards integrated aliases for Arteriovenous Malformation:

Name: Arteriovenous Malformation 12 76 54 29 6 15
Arteriovenous Malformations 55 43
Arteriovenous Hemangioma 12 73
Congenital Arteriovenous Malformation 73
Racemose Hemangioma 12
Racemose Aneurysm 12
Cirsoid Aneurysm 12
Racemose Angioma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11294
ICD10 33 I77.0
NCIt 50 C2882

Summaries for Arteriovenous Malformation

MedlinePlus : 43 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 capillary malformation-arteriovenous malformation and pulmonary arteriovenous malformation, 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 Decreased viability

NINDS : 54 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.

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

Wikipedia : 76 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 339)
# Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 34.9 EPHB4 RASA1
2 pulmonary arteriovenous malformation 34.9 ACVRL1 ENG
3 telangiectasia, hereditary hemorrhagic, type 1 33.4 ACVRL1 ENG
4 arteriovenous malformations of the brain 33.1 ACVRL1 ENG EPHB4 IL6 RASA1 VEGFA
5 arteriovenous fistula 31.2 IL6 RASA1
6 weber syndrome 31.1 ACVRL1 ENG RASA1
7 angiodysplasia 30.4 ACVRL1 ENG VEGFA
8 brain edema 30.4 IL6 MMP9 VEGFA
9 grade iii astrocytoma 29.7 MMP9 PTEN VEGFA
10 pulmonary hypertension, primary, 1 29.7 ACVRL1 BMPR2 ENG
11 pulmonary hypertension 28.8 ACVRL1 BMPR2 ENG IL6 VEGFA
12 myocardial infarction 28.6 ENG IL6 MMP3 MMP9 VEGFA
13 telangiectasis 28.3 ACVRL1 BMPR2 ENG RASA1 VEGFA
14 extracranial arteriovenous malformation 12.4
15 mandibular arteriovenous malformation 12.3
16 maxillary arteriovenous malformation 12.3
17 facial arteriovenous malformation 12.1
18 frontonasal arteriovenous malformation 12.1
19 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.1
20 vein of galen aneurysm 12.0
21 cobb syndrome 11.6
22 pulmonary arteriovenous fistulas 11.6
23 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.6
24 hereditary hemorrhagic telangiectasia 11.5
25 telangiectasia, hereditary hemorrhagic, type 2 11.4
26 pulmonary arterio-veinous fistula 11.4
27 wyburn mason's syndrome 11.2
28 parkes weber syndrome 11.2
29 cauda equina syndrome 11.2
30 cerebral cavernous malformations 11.2
31 foix-alajouanine syndrome 11.2
32 telangiectasia, hereditary hemorrhagic, type 5 11.1
33 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.1
34 dural sinus malformation 11.0
35 noonan syndrome 1 10.9
36 telangiectasia, hereditary hemorrhagic, type 4 10.9
37 hemorrhage, intracerebral 10.9
38 paroxysmal hemicrania 10.9
39 superficial siderosis of the central nervous system 10.9
40 cerebritis 10.8
41 glomeruloid hemangioma 10.7 ENG VEGFA
42 capillary hemangioma 10.7 RASA1 VEGFA
43 skin hemangioma 10.6 RASA1 VEGFA
44 critical limb ischemia 10.6 IL6 VEGFA
45 diabetic foot ulcers 10.6 IL6 MMP9
46 rheumatoid nodulosis 10.6 MMP3 MMP9
47 sick building syndrome 10.6 MMP9 VEGFA
48 adamantinous craniopharyngioma 10.6 MMP9 VEGFA
49 acute transverse myelitis 10.6 IL6 MMP9
50 spinal disease 10.6 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.62 BMPR2
2 Decreased viability GR00221-A-1 9.62 EPHB4 ACVRL1 BMPR2
3 Decreased viability GR00221-A-2 9.62 EPHB4 ACVRL1
4 Decreased viability GR00221-A-3 9.62 RASA1 ACVRL1 BMPR2
5 Decreased viability GR00221-A-4 9.62 EPHB4 RASA1 ACVRL1 BMPR2
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 RASA1 ACVRL1 BMPR2 EPHB4

MGI Mouse Phenotypes related to Arteriovenous Malformation:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 BMPR2 ENG EFNB2 ACVRL1 PTEN ITGB8
2 growth/size/body region MP:0005378 10.24 BMPR2 ENG EFNB2 ACVRL1 MMP9 IL6
3 digestive/alimentary MP:0005381 10.18 ENG EFNB2 ACVRL1 IL6 PTEN ITGB8
4 behavior/neurological MP:0005386 10.16 ACVRL1 EFNB2 BMPR2 MMP9 IL6 ENG
5 embryo MP:0005380 10.16 BMPR2 ENG EFNB2 ACVRL1 PTEN ITGB8
6 homeostasis/metabolism MP:0005376 10.16 ENG BMPR2 ACVRL1 EFNB2 MMP9 IL6
7 mortality/aging MP:0010768 10.14 BMPR2 ENG EFNB2 ACVRL1 MMP9 IL6
8 hematopoietic system MP:0005397 10.13 BMPR2 ENG ACVRL1 EFNB2 MMP9 IL6
9 immune system MP:0005387 10.09 BMPR2 EFNB2 MMP9 IL6 MMP3 EPHB4
10 muscle MP:0005369 10.07 BMPR2 ENG EFNB2 ACVRL1 PTEN EPHB4
11 nervous system MP:0003631 10.06 BMPR2 ENG EFNB2 ACVRL1 IL6 PTEN
12 craniofacial MP:0005382 10.01 ENG ACVRL1 EFNB2 ITGB8 RASA1 VEGFA
13 normal MP:0002873 9.8 EFNB2 BMPR2 ENG ACVRL1 ITGB8 VEGFA
14 renal/urinary system MP:0005367 9.76 BMPR2 EFNB2 ACVRL1 MMP9 IL6 PTEN
15 respiratory system MP:0005388 9.56 BMPR2 ENG EFNB2 ACVRL1 MMP9 IL6
16 skeleton MP:0005390 9.23 BMPR2 EFNB2 MMP9 IL6 MMP3 RASA1

Drugs & Therapeutics for Arteriovenous Malformation

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

(show top 50) (show all 153)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Not Applicable 113775-47-6 68602 5311068
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
4
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
5
Ethanol Approved Phase 4 64-17-5 702
6
Heparin Approved, Investigational Phase 4,Phase 2,Not Applicable 9005-49-6 772 46507594
7
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
8
Tranexamic Acid Approved Phase 4 1197-18-8 5526
9
Nitroglycerin Approved, Investigational Phase 4,Not Applicable 55-63-0 4510
10
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
11
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
12
Ethiodized oil Approved, Investigational Phase 4 8008-53-5
13
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
14 Adrenergic Agents Phase 4,Not Applicable
15 Adrenergic Agonists Phase 4,Not Applicable
16 Adrenergic alpha-2 Receptor Agonists Phase 4,Not Applicable
17 Adrenergic alpha-Agonists Phase 4,Not Applicable
18 Analgesics Phase 4,Not Applicable
19 Analgesics, Non-Narcotic Phase 4,Not Applicable
20 Anesthetics Phase 4,Not Applicable
21 Anesthetics, General Phase 4
22 Anesthetics, Intravenous Phase 4
23 Central Nervous System Depressants Phase 4,Not Applicable
24 Hypnotics and Sedatives Phase 4,Not Applicable
25 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
26 Peripheral Nervous System Agents Phase 4,Not Applicable
27 Anesthetics, Local Phase 4,Not Applicable
28 Anti-Arrhythmia Agents Phase 4,Not Applicable
29 Diuretics, Potassium Sparing Phase 4,Not Applicable
30 Sodium Channel Blockers Phase 4,Not Applicable
31 Anticoagulants Phase 4,Phase 2,Not Applicable
32 calcium heparin Phase 4,Phase 2,Not Applicable
33 Calcium, Dietary Phase 4,Phase 1,Phase 2,Not Applicable
34 Fibrinolytic Agents Phase 4,Phase 2,Not Applicable
35 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Antifibrinolytic Agents Phase 4
37 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Anti-Infective Agents, Local Phase 4
39 Coagulants Phase 4
40 Hemostatics Phase 4
41 Vasodilator Agents Phase 4,Not Applicable
42 Pharmaceutical Solutions Phase 4,Phase 2,Not Applicable
43 Adjuvants, Anesthesia Phase 4
44 Analgesics, Opioid Phase 4
45 Narcotics Phase 4
46 Ferrosoferric Oxide Phase 4
47 Hematinics Phase 4
48 Parenteral Nutrition Solutions Phase 4
49 Anesthetics, Inhalation Phase 4
50 Platelet Aggregation Inhibitors Phase 4,Not Applicable

Interventional clinical trials:

(show top 50) (show all 196)
# 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 Use of Topical Tranexamic Acid and Bacitracin in Dialysis Patients Completed NCT02106962 Phase 4 Topical Tranexamic Acid 5% with bacitracin
6 The Use of Glyceryl Trinitrate Patches in Arteriovenous Fistulas Completed NCT01685710 Phase 4 GTN patch;placebo comparator
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 Evaluation of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. Recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
10 Assessment of the Embolization of Neurovascular Lesions Using the Penumbra Smart Coil Recruiting NCT02729740 Phase 4
11 Ferumoxytol Enhanced Magnetic Resonance Angiography in Chronic Kidney Disease Recruiting NCT02997046 Phase 4
12 The Feasibility of Propofol TCI in Hemodialysis Patients Undergoing Arteriovenous Shunt Surgery Recruiting NCT03311581 Phase 4 Propofol
13 Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Not yet recruiting NCT02079818 Phase 4
14 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Terminated NCT02028325 Phase 4 Fluorescein Sodium
15 Functional Magnetic Resonance Imagine(fMRI)Navigation in Intracranial Arteriovenous Malformation Surgery Unknown status NCT01758211 Phase 3
16 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
17 A Randomized Trial of Unruptured Brain AVMs Completed NCT00389181 Phase 3
18 Percutaneous Less Invasive AV Fistula for Vascular Access in ESRD Completed NCT02363972 Phase 3
19 Safety and Efficacy Study of the Venous Window Needle Guide to Access Arteriovenous (AV)Fistulae Completed NCT01471041 Phase 2, Phase 3
20 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries Recruiting NCT02829190 Phase 3
21 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%
22 Paclitaxel-coated Balloon Angioplasty Versus Standard Angioplasty for the Treatment of Stenosis of Arteriovenous Fistula Recruiting NCT02753998 Phase 3
23 Primary Patency in Post-angioplasty Dysfunctional Arteriovenous Fistula in Renal Dialysis: Paclitaxel-releasing PTA Balloon Catheter vs PTA Balloon Recruiting NCT02565953 Phase 3
24 Trial to Evaluate the Sirolimus-Eluting Collagen Implant on AV Fistula Outcomes 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 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 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
28 Preoperative Arteriovenous Fistula Simulation Study (ShuntSimulationStudy) Enrolling by invitation NCT02453412 Phase 2, Phase 3
29 Arteriovenous Fistula: Conventional Angioplasty vs Drug Eluting Balloon-assisted Maturation Intervention Clinical Trial Not yet recruiting NCT03068845 Phase 3
30 Zero Ischemia Laparoscopic Partial Nephrectomy Withdrawn NCT02634385 Phase 2, Phase 3
31 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
32 Study Comparing Onyx and TRUFILL in Brain Arteriovenous Malformations (AVMs) Completed NCT00857662 Phase 2
33 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
34 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
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 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
39 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults Recruiting NCT02797366 Phase 2
40 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
41 High-intensity Atorvastatin for Arteriovenous Fistula Failure (HAFF): A Feasibility Pilot Study Recruiting NCT03188978 Phase 1, Phase 2 Atorvastatin 40mg
42 Delivery of Inhibitors of Lysyl Oxidase (LysoLox) on Serial Angioplasty and Time to Restenosis Recruiting NCT03106948 Phase 2 Placebo;Ascorbic Acid;Cuprimine Oral Product
43 Determine the Safety/Efficacy of Ticagrelor for Maintaining Patency of Arterio-Venous Fistulae Created for Hemodialysis Recruiting NCT02335099 Phase 1, Phase 2 ticagrelor;Placebo
44 Vascular Protective Effect of Rosuvastatin in Arteriovenous Fistula Recruiting NCT01863914 Phase 2 Rosuvastatin
45 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
46 Bevacizumab Therapy for Brain Arteriovenous Malformation Unknown status NCT02314377 Phase 1 Bevacizumab
47 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
48 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
49 Phase I Drug Trial for S/E of Marimastat in Disabling Malformations When no Other Options. Completed NCT00261391 Phase 1 Marimastat
50 Clinical Translation of a Novel Albumin-Binding PET Radiotracer 68Ga-NEB Recruiting NCT02496013 Phase 1 68Ga-NEB

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 29

Anatomical Context for Arteriovenous Malformation

MalaCards organs/tissues related to Arteriovenous Malformation:

41
Brain, Spinal Cord, Heart, Testes, Endothelial, Kidney, Bone

Publications for Arteriovenous Malformation

Articles related to Arteriovenous Malformation:

(show top 50) (show all 1718)
# Title Authors Year
1
Pulmonary Arteriovenous Malformation After Metastatic Gestational Trophoblastic Tumor. ( 29884426 )
2018
2
Utility of second-generation single-energy metal artifact reduction in helical lung computed tomography for patients with pulmonary arteriovenous malformation after coil embolization. ( 29429141 )
2018
3
Targeted Embolization of Aneurysms Associated With Brain Arteriovenous Malformations at High Risk for Surgical Resection: A Case-Control Study. ( 28419337 )
2018
4
Emergency video-assisted thoracic surgery for ruptured pulmonary arteriovenous malformation-related hemothorax in a pregnant woman: a case report. ( 29551093 )
2018
5
Early Hemodynamic Response Assessment of Stereotactic Radiosurgery for a Cerebral Arteriovenous Malformation Using 4D Flow MRI. ( 29371257 )
2018
6
Conus medullaris arteriovenous malformation presenting with acute dysphagia and intractable hiccups. ( 29305117 )
2018
7
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29669234 )
2018
8
Delayed hemorrhagic complication after complete embolization of a brain arteriovenous malformation. ( 29908698 )
2018
9
Pancreatic arteriovenous malformation mimicking pancreatic neoplasm: a systematic multimodality diagnostic approach and treatment. ( 29904461 )
2018
10
Subinvolution of the placental site associated with focal retained products of conception and placenta accreta mimicking uterine arteriovenous malformation on CT and MRI: a lesson to be learned. ( 29743751 )
2018
11
Hereditary Hemorrhagic Telangiectasia: Cinematic Rendering of Hepatic Arteriovenous Malformations. ( 29916781 )
2018
12
Sylvian Arteriovenous Malformation Resection and Associated Middle Cerebral Artery Aneurysm Clipping: Technical Nuances of Concurrent Surgical Treatment. ( 29805922 )
2018
13
Trans-venous embolization of a basal ganglia ruptured arteriovenous malformation with open surgical arterial control: a hybrid technique. ( 29410371 )
2018
14
Arteriovenous malformation of the ureter diagnosed by CT urogram. ( 29888180 )
2018
15
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29671469 )
2018
16
Varicocele due to renal arteriovenous malformation mimicking a renal tumor: a case report. ( 29304872 )
2018
17
An unusual case of spinal arteriovenous malformation presenting with severe paraplegia at term pregnancy. ( 29753500 )
2018
18
Arteriovenous malformation in the sigmoid colon of a patient with Cowden disease treated with laparoscopy: a case report. ( 29636101 )
2018
19
Microsurgical Resection of Ruptured Large Left Temporo-Occipital Arteriovenous Malformation: 3-Dimensional Operative Video. ( 29788334 )
2018
20
Combined Endovascular and Microsurgical Treatment of a Premotor Arteriovenous Malformation: 2-Dimensional Operative Video. ( 29346607 )
2018
21
Role of time-resolved-CTA in intracranial arteriovenous malformation evaluation at 128-slice CT in comparison with digital subtraction angiography. ( 29366361 )
2018
22
A Rare Case of Brain Angiolipoma Imitating Arteriovenous Malformation: Differential Diagnosis, Surgical Treatment, and Literature Review. ( 29614355 )
2018
23
Large pulmonary arteriovenous malformation with paradoxical cerebral infarction. ( 29534345 )
2018
24
Extensive uterine arteriovenous malformation with hemodynamic instability: Embolization for whole myometrium affection. ( 29395294 )
2018
25
Surgical removal of an arteriovenous malformation in the anterior perforated substance in a pregnant woman. ( 29963326 )
2018
26
Scalp Arteriovenous Malformation (Cirsoid Aneurysm) in Adolescence: Report of 2 Cases and Review of the Literature. ( 29864562 )
2018
27
Vascular Plugging for the Enlarging Pulmonary Arteriovenous Malformation in a Patient With Idiopathic Pulmonary Artery Hypertension. ( 29801749 )
2018
28
Reductions in brain pericytes are associated with arteriovenous malformation vascular instability. ( 29303444 )
2018
29
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome. ( 28295764 )
2018
30
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29298116 )
2018
31
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. ( 29024832 )
2018
32
Predictors of intracranial hemorrhage volume and distribution in brain arteriovenous malformation. ( 29343148 )
2018
33
Embolisation for pulmonary arteriovenous malformation. ( 29298459 )
2018
34
Identification of a rare <i>BMP</i> pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing. ( 29844917 )
2018
35
Dieulafoy's disease with mediastinal arteriovenous malformation. ( 29353256 )
2018
36
Management of pregnancy complicated with intracranial arteriovenous malformation. ( 29369471 )
2018
37
Polypoid pulmonary arteriovenous malformation causing hemothorax treated with thoracoscopic wedge resection. ( 29532185 )
2018
38
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. ( 29120072 )
2018
39
Acquired uterine arteriovenous malformation - a diagnostic dilemma. ( 29781080 )
2018
40
Posterior fossa brain arteriovenous malformations : Clinical features and outcomes of endovascular embolization, adjuvant microsurgery and radiosurgery. ( 27154219 )
2018
41
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. ( 29891884 )
2018
42
Usefulness and Stability of Intraoperative Digital Subtraction Angiography Using the Transradial Route in Arteriovenous Malformation Surgery. ( 29309977 )
2018
43
Combined transarterial and transvenous embolization of a ruptured utero-ovarian arteriovenous malformation with ethylene vinyl alcohol copolymer (Onyx<sup>Ar</sup>). ( 29433830 )
2018
44
Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. ( 29281110 )
2018
45
Ischemic Stroke Secondary to Paradoxical Embolism Through a Pulmonary Arteriovenous Malformation: Case Report and Review of the Literature. ( 29628339 )
2018
46
Endovascular Treatment of 12 Cases of Renal Arteriovenous Malformations: The Experience of 1 Center and an Overview of the Literature. ( 29130853 )
2018
47
Congenital Arteriovenous Malformation of the Scalp Involving the Orbit. ( 29906812 )
2018
48
Pulmonary arteriovenous malformation presenting as spontaneous haemothorax on transthoracic ultrasound. ( 29574417 )
2018
49
External Ear Arteriovenous Malformation. ( 29342048 )
2018
50
Eyelid arteriovenous malformation treated with pre-surgical embolization: A case report. ( 29359613 )
2018

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 GRCh37 Chromosome 2, 121746134: 121746134
2 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 120988558: 120988558
3 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 90675320: 90675320
4 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 ACVRL1 BMPR2 EPHB4 IL6 ITGB8 PTEN
2
Show member pathways
13.48 EPHB4 IL6 ITGB8 MMP3 MMP9 RASA1
3
Show member pathways
13.13 ACVRL1 BMPR2 EPHB4 IL6 ITGB8 PTEN
4
Show member pathways
12.55 IL6 MMP9 PTEN VEGFA
5
Show member pathways
12.5 ITGB8 MMP3 MMP9 PLOD2
6
Show member pathways
12.25 IL6 MMP9 PTEN VEGFA
7
Show member pathways
12.2 EFNB2 EPHB4 MMP9 RASA1 VEGFA
8 12.18 BMPR2 MMP9 PTEN VEGFA
9 11.98 IL6 MMP9 VEGFA
10 11.9 BMPR2 PTEN VEGFA
11 11.87 BMPR2 EFNB2 EPHB4 RASA1
12 11.84 BMPR2 MMP9 VEGFA
13 11.75 EFNB2 IL6 MMP9
14 11.67 IL6 MMP3 MMP9
15 11.51 IL6 MMP3 MMP9 VEGFA
16 11.5 IL6 MMP3 VEGFA
17 11.21 EFNB2 ENG MMP3 MMP9
18
Show member pathways
11.03 ACVRL1 BMPR2
19 11.02 EFNB2 EPHB4
20 10.94 MMP9 VEGFA
21
Show member pathways
10.72 IL6 MMP3 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 receptor complex GO:0043235 9.13 BMPR2 ENG EPHB4
2 cell surface GO:0009986 9.02 ACVRL1 BMPR2 ENG ITGB8 VEGFA

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.91 IL6 MMP3 MMP9 VEGFA
2 response to hypoxia GO:0001666 9.84 ACVRL1 PLOD2 VEGFA
3 negative regulation of gene expression GO:0010629 9.84 ACVRL1 ENG ITGB8 VEGFA
4 positive regulation of protein phosphorylation GO:0001934 9.83 ENG MMP9 VEGFA
5 positive regulation of gene expression GO:0010628 9.83 ENG IL6 ITGB8 PTEN VEGFA
6 negative regulation of cell migration GO:0030336 9.8 ACVRL1 ENG PTEN
7 BMP signaling pathway GO:0030509 9.77 ACVRL1 BMPR2 ENG
8 positive regulation of endothelial cell proliferation GO:0001938 9.74 ACVRL1 BMPR2 VEGFA
9 negative regulation of apoptotic process GO:0043066 9.73 EPHB4 IL6 MMP9 PTEN RASA1 VEGFA
10 positive regulation of angiogenesis GO:0045766 9.71 ACVRL1 ENG ITGB8 VEGFA
11 vasculogenesis GO:0001570 9.69 ENG RASA1 VEGFA
12 outflow tract septum morphogenesis GO:0003148 9.67 BMPR2 ENG
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 ACVRL1 BMPR2 ENG
14 artery morphogenesis GO:0048844 9.65 ENG VEGFA
15 cardiac muscle tissue development GO:0048738 9.65 BMPR2 PTEN
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 ACVRL1 BMPR2
17 macrophage differentiation GO:0030225 9.64 MMP9 VEGFA
18 endocardial cushion morphogenesis GO:0003203 9.64 ACVRL1 ENG
19 activin receptor signaling pathway GO:0032924 9.63 ACVRL1 BMPR2
20 negative regulation of focal adhesion assembly GO:0051895 9.62 ACVRL1 PTEN
21 lymphangiogenesis GO:0001946 9.62 ACVRL1 BMPR2
22 negative regulation of DNA biosynthetic process GO:2000279 9.61 ACVRL1 BMPR2
23 artery development GO:0060840 9.59 ACVRL1 BMPR2
24 dorsal aorta morphogenesis GO:0035912 9.58 ACVRL1 ENG
25 retina vasculature development in camera-type eye GO:0061298 9.58 ACVRL1 BMPR2
26 venous blood vessel morphogenesis GO:0048845 9.56 EFNB2 ENG
27 positive regulation of axon extension involved in axon guidance GO:0048842 9.55 BMPR2 VEGFA
28 positive regulation of BMP signaling pathway GO:0030513 9.54 ACVRL1 BMPR2 ENG
29 lymphatic endothelial cell differentiation GO:0060836 9.52 ACVRL1 BMPR2
30 blood vessel morphogenesis GO:0048514 9.5 ACVRL1 EFNB2 RASA1
31 venous blood vessel development GO:0060841 9.48 ACVRL1 BMPR2
32 endocardial cushion to mesenchymal transition GO:0090500 9.46 ACVRL1 ENG
33 ephrin receptor signaling pathway GO:0048013 9.46 EFNB2 EPHB4 MMP9 RASA1
34 angiogenesis GO:0001525 9.35 ACVRL1 ENG EPHB4 PTEN VEGFA
35 cell migration involved in sprouting angiogenesis GO:0002042 8.8 EFNB2 EPHB4 VEGFA

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

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

Sources for Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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