MCID: ART005
MIFTS: 63

Arteriovenous Malformation

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

Aliases & Classifications for Arteriovenous Malformation

MalaCards integrated aliases for Arteriovenous Malformation:

Name: Arteriovenous Malformation 12 75 54 29 6 15
Arteriovenous Malformations 55 43 15
Arteriovenous Hemangioma 12 72
Congenital Arteriovenous Malformation 72
Racemose Hemangioma 12
Racemose Aneurysm 12
Cirsoid Aneurysm 12
Racemose Angioma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11294
NCIt 50 C2882
SNOMED-CT 68 11071001 14156004
ICD10 33 I77.0
UMLS 72 C0003857 C0334533

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 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 GPCR Pathway and ERK 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 A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.

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.

Wikipedia : 75 Arteriovenous malformation is an abnormal connection between arteries and veins, bypassing the capillary... more...

Related Diseases for Arteriovenous Malformation

Diseases in the Arteriovenous Malformation family:

Rare Arteriovenous Malformation

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

(show top 50) (show all 819)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 35.1 ENG ACVRL1
2 arteriovenous malformations of the brain 33.4 VEGFA RASA1 IL6 EPHB4 ENG EFNB2
3 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 32.7 TGFBR1 RASA1 ENG ACVRL1
4 weber syndrome 31.6 RASA1 ENG ACVRL1
5 varicose veins 31.2 VEGFA MMP9 MMP3
6 brain edema 31.1 VEGFA MMP9 IL6
7 angiodysplasia 30.7 VEGFA ENG ANGPT2 ACVRL1
8 hemangioma 30.7 VEGFA TEK PTEN ANGPT2
9 telangiectasis 30.6 VEGFA TGFBR1 ENG BMPR2 ACVRL1
10 capillary hemangioma 30.6 VEGFA TEK RASA1
11 hepatopulmonary syndrome 30.5 VEGFA BMPR2 ACVRL1
12 pulmonary hypertension, primary, 1 30.5 ENG BMPR2 ACVRL1
13 ischemic colitis 30.2 VEGFA MMP9
14 grade iii astrocytoma 30.1 VEGFA PTEN MMP9
15 intermittent claudication 30.0 VEGFA IL6 ANGPT2
16 periodontitis 29.9 MMP9 MMP3 IL6
17 pyogenic granuloma 29.9 VEGFA TEK ANGPT2
18 exudative vitreoretinopathy 1 29.9 VEGFA TEK ANGPT2
19 endometriosis 29.7 VEGFA PTEN IL6
20 vascular disease 29.3 VEGFA MMP9 MMP3 IL6 ENG BMPR2
21 arteries, anomalies of 29.0 VEGFA MMP9 IL6 BMPR2 ACVRL1
22 capillary malformation-arteriovenous malformation 1 13.0
23 capillary malformation-arteriovenous malformation 2 12.8
24 extracranial arteriovenous malformation 12.7
25 mandibular arteriovenous malformation 12.6
26 facial arteriovenous malformation 12.6
27 maxillary arteriovenous malformation 12.6
28 rare arteriovenous malformation 12.5
29 frontonasal arteriovenous malformation 12.4
30 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.4
31 vein of galen aneurysm 12.1
32 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.0
33 hereditary hemorrhagic telangiectasia 12.0
34 wyburn-mason syndrome 11.9
35 cobb syndrome 11.9
36 telangiectasia, hereditary hemorrhagic, type 1 11.8
37 pulmonary arteriovenous fistulas 11.8
38 telangiectasia, hereditary hemorrhagic, type 2 11.7
39 pulmonary arterio-veinous fistula 11.7
40 dural sinus malformation 11.6
41 parkes weber syndrome 11.6
42 stroke, ischemic 11.6
43 cauda equina syndrome 11.6
44 cerebral cavernous malformations 11.5
45 foix-alajouanine syndrome 11.5
46 superficial siderosis of the central nervous system 11.5
47 telangiectasia, hereditary hemorrhagic, type 5 11.5
48 histiocytoid hemangioma 11.4
49 noonan syndrome 1 11.2
50 telangiectasia, hereditary hemorrhagic, type 4 11.2

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, chest pain, back pain, pain, headache, syncope, chronic pain, sciatica, 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 9.92 BMPR2
2 Decreased viability GR00221-A-1 9.92 ACVRL1 BMPR2 EPHB4 TGFBR1
3 Decreased viability GR00221-A-2 9.92 ACVRL1 EPHB4
4 Decreased viability GR00221-A-3 9.92 ACVRL1 BMPR2 RASA1 TEK
5 Decreased viability GR00221-A-4 9.92 ACVRL1 BMPR2 RASA1 EPHB4 TGFBR1
6 Decreased viability GR00301-A 9.92 BMPR2 EPHB4
7 Decreased viability GR00381-A-1 9.92 RASA1
8 Decreased viability GR00402-S-2 9.92 ACVRL1 BMPR2 RASA1 TEK EPHB4 TGFBR1

MGI Mouse Phenotypes related to Arteriovenous Malformation:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.45 ACVRL1 ANGPT2 ANGPTL4 BMPR2 EFNB2 ENG
2 growth/size/body region MP:0005378 10.37 ACVRL1 ANGPTL4 BMPR2 EFNB2 ENG EPHB4
3 homeostasis/metabolism MP:0005376 10.34 ACVRL1 ANGPT2 ANGPTL4 BMPR2 EFNB2 ENG
4 digestive/alimentary MP:0005381 10.33 ACVRL1 ANGPT2 ANGPTL4 EFNB2 ENG IL6
5 mortality/aging MP:0010768 10.31 ACVRL1 ANGPT2 ANGPTL4 BMPR2 EFNB2 ENG
6 embryo MP:0005380 10.28 ACVRL1 BMPR2 EFNB2 ENG EPHB4 ITGB8
7 cellular MP:0005384 10.27 ANGPT2 BMPR2 EFNB2 IL6 ITGB8 MMP9
8 immune system MP:0005387 10.26 ANGPT2 ANGPTL4 BMPR2 EFNB2 EPHB4 IL6
9 hematopoietic system MP:0005397 10.25 ACVRL1 BMPR2 EFNB2 ENG IL6 MMP3
10 muscle MP:0005369 10.18 ACVRL1 BMPR2 EFNB2 ENG EPHB4 IL6
11 nervous system MP:0003631 10.18 ACVRL1 BMPR2 EFNB2 ENG IL6 ITGB8
12 integument MP:0010771 10.06 ANGPT2 EFNB2 ENG IL6 MMP9 PTEN
13 craniofacial MP:0005382 10.03 ACVRL1 EFNB2 ENG ITGB8 RASA1 VEGFA
14 normal MP:0002873 9.97 ACVRL1 BMPR2 EFNB2 ENG ITGB8 PTEN
15 renal/urinary system MP:0005367 9.86 ACVRL1 BMPR2 EFNB2 EPHB4 IL6 MMP9
16 respiratory system MP:0005388 9.85 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG IL6
17 skeleton MP:0005390 9.61 BMPR2 EFNB2 IL6 MMP3 MMP9 PTEN
18 vision/eye MP:0005391 9.23 ANGPT2 ANGPTL4 EFNB2 IL6 MMP9 PTEN

Drugs & Therapeutics for Arteriovenous Malformation

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Ethanol Approved Phase 4 64-17-5 702
4 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
5
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
6
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
7
Tenecteplase Approved Phase 4 191588-94-0
8 Adrenergic alpha-2 Receptor Agonists Phase 4
9 Hypnotics and Sedatives Phase 4
10 Adjuvants, Anesthesia Phase 4
11 Anesthetics Phase 4
12 Anesthetics, General Phase 4
13 Anesthetics, Intravenous Phase 4
14 Neurotransmitter Agents Phase 4
15 calcium heparin Phase 4
16 Purinergic P2Y Receptor Antagonists Phase 4
17 Purinergic P2 Receptor Antagonists Phase 4
18
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
19
Petrolatum Approved, Investigational Phase 3 8009-03-8
20
tannic acid Approved Phase 3 1401-55-4
21
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
22
Guaifenesin Approved, Investigational, Vet_approved Phase 2, Phase 3 93-14-1 3516
23
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
24
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
25
Codeine Approved, Illicit Phase 2, Phase 3 76-57-3 5284371
26
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
27
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
28 Central Nervous System Depressants Phase 2, Phase 3
29 Narcotics Phase 2, Phase 3
30 Analgesics, Opioid Phase 2, Phase 3
31 Respiratory System Agents Phase 2, Phase 3
32 Chlorpheniramine, phenylpropanolamine drug combination Phase 2, Phase 3
33 Anticonvulsants Phase 2, Phase 3
34 Antitussive Agents Phase 2, Phase 3
35 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
36
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
37
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
38
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
39
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
40
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
41
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
42
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
43
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
44
Bevacizumab Approved, Investigational Phase 2 216974-75-3
45
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
46
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
47
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
48
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
49
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
50
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2

Interventional clinical trials:

(show top 50) (show all 123)
# Name Status NCT ID Phase Drugs
1 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery: A Randomized Controlled Study Unknown status NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
2 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Unknown status NCT02478346 Phase 4 Fluorescein Sodium
3 A Prospective, Randomized, Single-Center Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
4 Safety and Efficacy of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. A Phase IV Study. Recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
5 TRIANA: A Randomized Trial to Compare the Efficay and Safety of Thrombolysis With Primary Angioplasty as Initial Reperfusion Therapy in Older Patients (>= 75 Years Old) With Acute Myocardial Infarction Terminated NCT00257309 Phase 4 Tenecteplase + UFH (+ clopidogrel, since 01/97)
6 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
7 Blood Oxygen Level Dependent fMRI Navigation for Function Protection in Intracranial Arteriovenous Malformation Surgery: a Multicenter Prospective Randomized Controlled Single Blind Clinical Trial Unknown status NCT01758211 Phase 3
8 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
9 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
10 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
11 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3
12 A Multicenter, Double-blind, Randomized, Placebo-controlled Study of Weight-Reduction and/or Low Sodium Diet Plus Acetazolamide vs Diet Plus Placebo in Subjects With Idiopathic Intracranial Hypertension With Mild Visual Loss Completed NCT01003639 Phase 2, Phase 3 Acetazolamide;Placebo
13 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries in Normal and Pathological Cases Recruiting NCT02829190 Phase 3
14 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
15 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
16 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
17 U.S. Multicenter, Randomized Controlled Study Comparing the Performance fo Onyx(EVOH) and TRUFILL® (n-BCA)in Presurgical Embolization of Brain Arteriovenous Malformations (BAVMs) Completed NCT00857662 Phase 2
18 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
19 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870 Phase 2
20 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
21 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults - a Prospective Swedish Multicentre Study Recruiting NCT02797366 Phase 2
22 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
23 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
24 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Recruiting NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
25 An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding Active, not recruiting NCT02874326 Phase 2 Octreotide LAR
26 Low-dose Intra-arterial Bevacizumab for Edema and Radiation Necrosis Therapeutic Intervention (LIBERTI) Active, not recruiting NCT02819479 Phase 2 25% Mannitol;Low-dose Intra-arterial Bevacizumab
27 A Phase II Study Using LC Bead LUMI Radio-Opaque Embolic Beads to Detect and Characterize the Vascularity of Hepatic Tumors During Treatment With Transarterial Embolization (TAE) Alone or Combined With Thermal Ablation Enrolling by invitation NCT02649868 Phase 2
28 Radiation Dosimetry, Plasma Pharmacokinetics, Biodistribution, Safety and Diagnostic Performance of 68Ga-NEB in Healthy Volunteers and Patients With Hepatic Space-occupying Lesions and Suspicious Lymph Nodes Metastasis Unknown status NCT02496013 Phase 1 68Ga-NEB
29 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
30 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
31 Phase I Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Marimastat in Patients With Disabling Malformations and No Other Treatment Options Completed NCT00261391 Phase 1 Marimastat
32 Bevacizumab Therapy for Brain Arteriovenous Malformation Recruiting NCT02314377 Phase 1 Bevacizumab
33 Phase 1 Study to Assess the Safety of 500mg of Aspirin Added to IV TPA at Standard Doses to Prevent Re-occlusion of Cerebral Vessels After Successful Reperfusion. Withdrawn NCT00417898 Phase 1 Aspirin
34 A Nationwide Treatment Survey of Intracranial Arteriovenous Malformation: a Multicenter Retrospective and Prospective Register Study in China Unknown status NCT01803685
35 Treatment of Cerebral Arteriovenous Malformations With SQUID™ Liquid Embolic Agent Unknown status NCT02602990
36 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
37 Effects of Dexmedetomidine on Post-operative Blood Pressure in Patients Undergoing Brain Arteriovenous Malformation Embolization Unknown status NCT03076099 Dexmedetomidine
38 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916
39 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
40 The Evaluation of Intra-Cardiac Shunts in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT00733759
41 Safety of Rapid Ventricular Pacing During Cerebral Aneurysm Surgery by Multimodal Neuromonitoring Unknown status NCT03185091
42 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
43 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
44 Advanced Analysis of the Carotid Phonoangiography and Diseases Unknown status NCT02049463
45 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Unknown status NCT01689402
46 PrOspective, MultiCenter Study for the Evaluation of PerformanCe of the ArtVentive Medical Group Peripheral EndoLuminal OcclUsion SystemTM for the Peripheral Embolization Treatment to Rapidly OccluDe Venous or Arterial BleEding - OCCLUDE II Unknown status NCT02033954
47 A Questionnaire Study on Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
48 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
49 Multicenter Validation of the AVICH Score Unknown status NCT02920645
50 Prospective, Multicenter, Multinational Study to Assess the Safety and Performance of the Easyx Antia Liquid Embolic in Intracranial Interventions IDEALE Study Unknown status NCT02863133

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, Endothelial, Testes, Liver, Lung

Publications for Arteriovenous Malformation

Articles related to Arteriovenous Malformation:

(show top 50) (show all 13300)
# Title Authors PMID Year
1
Patients with in-situ metallic coils and Amplatzer vascular plugs used to treat pulmonary arteriovenous malformations since 1984 can safely undergo magnetic resonance imaging. 38 17
30894022 2019
2
Surgical management of complex brain arteriovenous malformations with hybrid operating technique: study protocol of a prospective registry and a pragmatic clinical trial. 38 17
31039755 2019
3
Clinical classification and individualized design for the treatment of basicranial artery injuries. 17
30882640 2019
4
Investigating the oxygenation of brain arteriovenous malformations using quantitative susceptibility mapping. 38
31075392 2019
5
Complete Resection of an Intradural Extramedullary Foramen Magnum Cavernous Malformation. 38
31426252 2019
6
Pilar Cyst Pigmented Epithelial Remnants: A Potential Diagnostic Pitfall. 38
31039667 2019
7
Curative Embolization of Arteriovenous Malformations. 38
30735875 2019
8
Neurovascular Lesions in Pediatric Epilepsy. 38
31066328 2019
9
Brain functional organization and structure in patients with arteriovenous malformations. 38
31222381 2019
10
Ocular infarction following ethanol sclerotherapy of an arteriovenous malformation. 38
31193121 2019
11
The Predicament of Gastrointestinal Bleeding in Patients With a Continuous-Flow Left Ventricular Assist Device: Pathophysiology, Evaluation, and Management. 38
30365405 2019
12
One-staged in situ embolization combined with surgical resection for eloquence protection of AVM: technical note. 38
31359304 2019
13
Intracranial subarachnoid hemorrhage resulting from non-cervical spinal arteriovenous lesions: Analysis of possible cause of bleeding and literature review. 38
31153664 2019
14
Merkel cell carcinoma of the forehead area: a literature review and case report. 38
31342210 2019
15
Sex-Specific Differences in Clinical Characteristics and Outcomes Among Patients with Vascular Abnormality-Related Intracerebral Hemorrhage. 38
31181362 2019
16
Acceleration-selective arterial spin labeling MR angiography for visualization of brain arteriovenous malformations. 38
31016367 2019
17
A Bibliometric Study of the Most Cited Reports in Central Nervous System Arteriovenous Malformations. 38
31207367 2019
18
Prognostic variables and outcome in relation to different bleeding patterns in arteriovenous malformations. 38
30838473 2019
19
Developmental lung anomalies in adults: A pictorial review. 38
31326738 2019
20
De novo distal middle cerebral artery aneurysm post-excision of intracerebral arteriovenous malformation in an 8-year old. 38
31401680 2019
21
Scalp Cirsoid Aneurysms: Case Illustration and Systematic Review of Literature. 38
31384940 2019
22
Micro-Arteriovenous Malformations of the Spine in Hereditary Hemorrhagic Telangiectasia. 38
31435723 2019
23
Stereotactic Radiosurgery for Unruptured Versus Ruptured Pediatric Brain Arteriovenous Malformations. 38
31387513 2019
24
Diagnosis and Treatment of Scalp Arteriovenous Malformations With Intracranial Extension. 38
31403511 2019
25
Retrospective study of functional outcomes and disability after non-ischaemic vascular causes of spinal cord dysfunction. 38
31403383 2019
26
Transcranial Doppler and Optic Nerve Sonography. 38
31279352 2019
27
Pulmonary arteriovenous malformations. 38
30386957 2019
28
Expansion of pulmonary arteriovenous malformations after grand mal seizures and other circumstances of PAVM growth. 38
31401571 2019
29
Tubercular hemoptysis in a young liver transplanted patient: Case report. 38
31415374 2019
30
Lack of Growth of Small (≤2 mm Feeding Artery) Untreated Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia. 38
31255500 2019
31
Endovascular Management of Massive Hemoptysis Secondary to Systemic Collaterals in Previously Treated Pulmonary Arteriovenous Malformation. 38
31431148 2019
32
Saline Contrast Transesophageal Echocardiography in Fontan Patients: Assessment of the Presence, Type, and Size of Right to Left Shunts. 38
31218373 2019
33
Left Transsylvian-Transinsular Approach for Radiation-Induced Cavernous Malformation: 3-Dimensional Operative Video. 38
30418603 2019
34
Steal Phenomenon with Tonsillar Arteriovenous Malformation. 38
31404341 2019
35
Large Renal Arteriovenous Malformation in a Patient With von Willebrand Disease. 38
31051167 2019
36
Isolated Acute Vestibular Loss After Embolization of Arteriovenous Malformation for Pulsatile Tinnitus. 38
31295211 2019
37
Triple-balloon-assisted n-butyl-2-cyanoacrylate embolization of a cirsoid renal arteriovenous malformation. 38
31414618 2019
38
Coil-Protected Technique for Liquid Embolization in Neurovascular Malformations. 38
31339016 2019
39
Use of a Transparent Cap Increases the Diagnostic Yield in Antegrade Single-Balloon Enteroscopy for Obscure GI Bleed. 38
30796686 2019
40
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia. 38
31400083 2019
41
Clipping of Basilar Perforator Pure Arterial Malformation Aneurysm: 2-Dimensional Operative Video. 38
30551187 2019
42
Transitional venous anomalies and DVAs draining brain AVMs: A single-institution case series and review of the literature. 38
31147229 2019
43
Thalidomide Use Reduces Risk of Refractory Gastrointestinal Bleeding in Patients with Continuous Flow Left Ventricular Assist Devices. 38
31425265 2019
44
[The application of hybrid operation suite in the management of cerebral and spinal vascular diseases and intracranial hypervascular tumors]. 38
31422631 2019
45
Spontaneous intracranial haemorrhage in children-intensive care needs and predictors of in-hospital mortality: a 10-year single-centre experience. 38
31165253 2019
46
Long-term outcomes of ruptured cerebral arteriovenous malformations in the paediatric population: A retrospective review in a regional hospital in Hong Kong. 38
31160200 2019
47
The role of multislice computerized tomography angiography in assessing postoperative vascular complications in liver transplant patients 38
31385486 2019
48
The role of multislice computerized tomography angiography in assessing postoperative vascular complications in liver transplant patients 38
31408295 2019
49
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. 38
31401848 2019
50
A Descriptive Analysis of Spinal Cord Arteriovenous Malformations: Clinical Features, Outcomes, and Trends in Management. 38
31404690 2019

Variations for Arteriovenous Malformation

ClinVar genetic disease variations for Arteriovenous Malformation:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance rs1332140763 2:121746134-121746134 2:120988558-120988558
2 ADGRV1 NM_032119.4(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance rs1554079046 5:89971137-89971137 5:90675320-90675320
3 CACNA1H NM_021098.3(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 16:1270816-1270816 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 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 VEGFA TGFBR1 TEK RASA1 MMP9 MMP3
2
Show member pathways
13.47 VEGFA TGFBR1 TEK RASA1 PTEN ITGB8
3
Show member pathways
13.44 VEGFA TGFBR1 TEK ITGB8 IL6 EPHB4
4
Show member pathways
13.4 VEGFA TEK RASA1 MMP9 EPHB4 EFNB2
5
Show member pathways
13.27 VEGFA TEK RASA1 MMP9 MMP3 IL6
6
Show member pathways
13.18 TGFBR1 TEK PTEN IL6 BMPR2 ANGPT2
7
Show member pathways
12.86 VEGFA TGFBR1 PTEN MMP9 IL6 ANGPT2
8
Show member pathways
12.85 VEGFA TEK PTEN ITGB8 IL6 ANGPT2
9
Show member pathways
12.77 TGFBR1 RASA1 PTEN ITGB8 IL6
10
Show member pathways
12.77 VEGFA TGFBR1 PTEN MMP9 MMP3
11
Show member pathways
12.76 TGFBR1 TEK PTEN ITGB8 IL6 EPHB4
12 12.74 VEGFA TGFBR1 PTEN MMP9 IL6
13 12.66 VEGFA TGFBR1 TEK RASA1 ANGPT2
14
Show member pathways
12.5 TEK RASA1 IL6 ANGPT2
15 12.44 VEGFA PTEN MMP9 BMPR2
16
Show member pathways
12.43 VEGFA RASA1 MMP9 EPHB4 EFNB2
17
Show member pathways
12.3 TEK RASA1 ITGB8 IL6 EPHB4
18 12.13 RASA1 EPHB4 EFNB2 BMPR2
19 12.07 VEGFA TGFBR1 MMP9 IL6
20 12.01 VEGFA TGFBR1 PTEN BMPR2
21
Show member pathways
11.99 TGFBR1 PTEN IL6
22 11.98 TEK EPHB4 EFNB2 ANGPT2
23
Show member pathways
11.95 MMP9 MMP3 IL6
24 11.93 MMP9 IL6 EFNB2
25 11.88 MMP9 MMP3 IL6
26 11.84 VEGFA MMP9 MMP3 IL6
27 11.83 VEGFA TGFBR1 IL6
28 11.8 TGFBR1 ENG ACVRL1
29 11.71 VEGFA TEK IL6 ANGPT2
30 11.64 MMP9 MMP3 IL6
31 11.59 VEGFA TEK MMP3 IL6
32
Show member pathways
11.54 TGFBR1 RASA1 MMP9
33 11.48 VEGFA TGFBR1 IL6
34 11.31 TGFBR1 RASA1 ITGB8 IL6
35
Show member pathways
11.26 VEGFA MMP9 MMP3 IL6
36 11.12 TGFBR1 TEK MMP9 MMP3 ENG EFNB2
37
Show member pathways
11.06 TGFBR1 BMPR2 ACVRL1
38 11.01 TGFBR1 ENG ANGPT2
39 10.96 VEGFA TEK MMP9
40 10.92 TEK ITGB8 IL6 EPHB4 ANGPT2

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 extracellular space GO:0005615 9.86 VEGFA MMP9 MMP3 IL6 ENG BMPR2
2 extracellular region GO:0005576 9.81 VEGFA TEK PTEN MMP9 MMP3 IL6
3 cell surface GO:0009986 9.5 VEGFA TGFBR1 TEK ITGB8 ENG BMPR2
4 activin receptor complex GO:0048179 9.32 TGFBR1 ACVRL1
5 receptor complex GO:0043235 9.1 TGFBR1 TEK EPHB4 ENG BMPR2 ACVRL1
6 plasma membrane GO:0005886 10.11 TGFBR1 TEK RASA1 PTEN ITGB8 EPHB4

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.98 VEGFA MMP9 MMP3 IL6
2 negative regulation of gene expression GO:0010629 9.97 VEGFA ITGB8 ENG ACVRL1
3 heart development GO:0007507 9.96 TGFBR1 TEK PTEN ENG
4 positive regulation of gene expression GO:0010628 9.93 VEGFA TGFBR1 PTEN ITGB8 IL6 ENG
5 positive regulation of protein phosphorylation GO:0001934 9.91 VEGFA TEK MMP9 ENG
6 negative regulation of cell migration GO:0030336 9.89 PTEN ENG ACVRL1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.86 TGFBR1 BMPR2 ACVRL1
8 BMP signaling pathway GO:0030509 9.85 ENG BMPR2 ACVRL1
9 cell differentiation GO:0030154 9.85 VEGFA TGFBR1 EFNB2 ANGPT2
10 pattern specification process GO:0007389 9.82 TGFBR1 BMPR2 ACVRL1
11 ephrin receptor signaling pathway GO:0048013 9.8 RASA1 MMP9 EPHB4 EFNB2
12 positive regulation of endothelial cell migration GO:0010595 9.78 VEGFA TEK BMPR2
13 negative regulation of apoptotic process GO:0043066 9.76 VEGFA TGFBR1 TEK RASA1 PTEN MMP9
14 positive regulation of BMP signaling pathway GO:0030513 9.74 ENG BMPR2 ACVRL1
15 sprouting angiogenesis GO:0002040 9.73 VEGFA TEK ENG
16 vasculogenesis GO:0001570 9.73 VEGFA RASA1 ITGB8 ENG
17 positive regulation of endothelial cell proliferation GO:0001938 9.72 VEGFA TGFBR1 TEK BMPR2 ACVRL1
18 cardiac muscle tissue development GO:0048738 9.71 PTEN BMPR2
19 negative regulation of focal adhesion assembly GO:0051895 9.71 PTEN ACVRL1
20 artery morphogenesis GO:0048844 9.71 VEGFA TGFBR1 ENG
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.71 TGFBR1 ENG BMPR2 ACVRL1
22 macrophage differentiation GO:0030225 9.7 VEGFA MMP9
23 endothelial cell proliferation GO:0001935 9.7 TEK BMPR2
24 endocardial cushion morphogenesis GO:0003203 9.7 ENG ACVRL1
25 cell migration involved in sprouting angiogenesis GO:0002042 9.7 VEGFA EPHB4 EFNB2
26 ventricular trabecula myocardium morphogenesis GO:0003222 9.69 TGFBR1 ENG
27 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.69 TGFBR1 BMPR2 ACVRL1
28 negative regulation of DNA biosynthetic process GO:2000279 9.68 BMPR2 ACVRL1
29 lymphangiogenesis GO:0001946 9.68 BMPR2 ACVRL1
30 positive regulation of cellular component movement GO:0051272 9.67 VEGFA TGFBR1
31 blood vessel morphogenesis GO:0048514 9.67 RASA1 EFNB2 ANGPT2 ACVRL1
32 coronary artery morphogenesis GO:0060982 9.66 VEGFA TGFBR1
33 retina vasculature development in camera-type eye GO:0061298 9.65 BMPR2 ACVRL1
34 dorsal aorta morphogenesis GO:0035912 9.65 ENG ACVRL1
35 artery development GO:0060840 9.65 BMPR2 ACVRL1
36 activin receptor signaling pathway GO:0032924 9.65 TGFBR1 BMPR2 ACVRL1
37 response to hypoxia GO:0001666 9.65 VEGFA TEK ANGPTL4 ANGPT2 ACVRL1
38 venous blood vessel morphogenesis GO:0048845 9.64 ENG EFNB2
39 positive regulation of axon extension involved in axon guidance GO:0048842 9.63 VEGFA BMPR2
40 lymphatic endothelial cell differentiation GO:0060836 9.63 BMPR2 ACVRL1
41 regulation of neuroinflammatory response GO:0150077 9.62 MMP9 MMP3
42 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.62 TGFBR1 ENG
43 venous blood vessel development GO:0060841 9.6 BMPR2 ACVRL1
44 glomerulus vasculature development GO:0072012 9.59 TEK ANGPT2
45 Tie signaling pathway GO:0048014 9.58 TEK ANGPT2
46 endocardial cushion to mesenchymal transition GO:0090500 9.58 ENG ACVRL1
47 positive regulation of angiogenesis GO:0045766 9.5 VEGFA TEK ITGB8 ENG ANGPTL4 ANGPT2
48 positive regulation of MAPK cascade GO:0043410 9.41 IL6
49 angiogenesis GO:0001525 9.28 VEGFA TGFBR1 TEK PTEN EPHB4 ENG
50 phosphorylation GO:0016310 10.09 TGFBR1 TEK EPHB4 BMPR2 ACVRL1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.95 TGFBR1 TEK EPHB4 BMPR2 ACVRL1
2 protein kinase activity GO:0004672 9.91 TGFBR1 TEK EPHB4 BMPR2 ACVRL1
3 signaling receptor binding GO:0005102 9.8 TGFBR1 RASA1 ITGB8 EFNB2 ANGPT2
4 SMAD binding GO:0046332 9.61 TGFBR1 BMPR2 ACVRL1
5 platelet-derived growth factor receptor binding GO:0005161 9.54 VEGFA PTEN
6 BMP binding GO:0036122 9.52 ENG BMPR2
7 transforming growth factor beta binding GO:0050431 9.5 TGFBR1 ENG ACVRL1
8 type II transforming growth factor beta receptor binding GO:0005114 9.49 TGFBR1 ENG
9 transforming growth factor beta receptor activity, type I GO:0005025 9.48 TGFBR1 ACVRL1
10 BMP receptor activity GO:0098821 9.46 BMPR2 ACVRL1
11 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR1 BMPR2 ACVRL1
12 activin binding GO:0048185 9.33 TGFBR1 ENG ACVRL1
13 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.13 TGFBR1 BMPR2 ACVRL1
14 growth factor binding GO:0019838 8.92 TGFBR1 TEK BMPR2 ACVRL1
15 protein binding GO:0005515 10.24 VEGFA TGFBR1 TEK RASA1 PTEN MMP9

Sources for Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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