MCID: ART005
MIFTS: 64

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 73 53 29 6 15 37
Arteriovenous Malformations 54 42 15
Arteriovenous Hemangioma 12 70
Congenital Arteriovenous Malformation 70
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 67 403966009
ICD10 32 I77.0
UMLS 70 C0003857 C0334533

Summaries for Arteriovenous Malformation

MedlinePlus : 42 Arteriovenous malformations (AVMs) are defects in your vascular system. Your vascular system is your body's network of blood vessels. It includes your Arteries, which carry oxygen-rich blood from your heart to your tissues and organs Veins, which carry the blood and waste products back to your heart Capillaries, which are tiny blood vessels that connect your small arteries to your small 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 of AVMs is unknown, 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 1 and pulmonary arteriovenous malformation, and has symptoms including seizures, tremor and back pain. An important gene associated with Arteriovenous Malformation is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are GPCR Pathway and PEDF Induced Signaling. The drugs Dexmedetomidine and Sufentanil have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and endothelial, 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 : 53 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 : 73 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 875)
# Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 1 33.6 RASA1 EPHB4 CCNH
2 pulmonary arteriovenous malformation 33.2 ENG BMPR2 ACVRL1
3 capillary malformation-arteriovenous malformation 2 33.1 SLC12A9 EPHB4
4 arteriovenous malformations of the brain 32.8 VEGFA TEK RASA1 PDCD10 ENG EFNB2
5 extracranial arteriovenous malformation 32.7 MMP9 MAP2K1
6 parkes weber syndrome 32.4 RASA1 EPHB4 CCNH
7 cerebral cavernous malformations 31.9 TEK PTEN PDCD10 ENG
8 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 31.7 TGFBR1 SMAD4 ENG BMPR2 ACVRL1
9 weber syndrome 31.3 RASA1 EPHB4 ENG CCNH ACVRL1
10 telangiectasis 31.2 VEGFA TGFBR1 SMAD4 ENG BMPR2 ACVRL1
11 klippel-trenaunay-weber syndrome 30.9 TEK RASA1 PDCD10
12 pulmonary hypertension, primary, 1 30.8 ENG BMPR2 ACVRL1
13 hereditary hemorrhagic telangiectasia 30.8 VEGFA TGFBR1 SMAD4 EPHB4 ENG BMPR2
14 angiodysplasia 30.8 VEGFA ENG ANGPT2 ACVRL1
15 vascular disease 30.8 VEGFA PDCD10 MMP9 ENG BMPR2 ACVRL1
16 hemangioma 30.6 VEGFA TEK PTEN PDCD10 NOTCH4 MMP9
17 retinal vascular disease 30.6 VEGFA TEK ANGPT2
18 hepatopulmonary syndrome 30.6 VEGFA ENG BMPR2 ACVRL1
19 placenta accreta 30.5 VEGFA TEK ANGPT2
20 capillary hemangioma 30.5 VEGFA TEK RASA1 ANGPT2
21 pulmonary hypertension 30.5 VEGFA TGFBR1 TEK SMAD4 ENG BMPR2
22 angiosarcoma 30.5 VEGFA TEK ANGPT2
23 neurofibromatosis, type i 30.4 RASA1 PTEN MAP2K1 HRAS
24 nevus, epidermal 30.4 PTEN LRRC56 HRAS
25 heritable pulmonary arterial hypertension 30.3 ENG BMPR2 ACVRL1
26 gastrointestinal stromal tumor 30.3 VEGFA TEK PTEN MMP9 ANGPT2
27 pyogenic granuloma 30.3 TEK ANGPT2
28 noonan syndrome with multiple lentigines 30.2 RASA1 MAP2K1 HRAS
29 peripheral artery disease 30.2 VEGFA ENG ANGPT2
30 juvenile polyposis syndrome 30.1 SMAD4 PTEN BMPR2 ACVRL1
31 intermittent claudication 30.1 VEGFA TEK ANGPT2
32 gliosarcoma 30.0 VEGFA PTEN MMP9 LRRC56 HRAS
33 intestinal benign neoplasm 29.8 VEGFA SMAD4 PTEN HRAS
34 lung cancer susceptibility 3 29.8 VEGFA SMAD4 MMP9 MAP2K1 LRRC56 HRAS
35 hemorrhagic disease 29.7 VEGFA SMAD4 PDCD10 ACVRL1
36 thrombocytopenia 29.7 SMAD4 PTEN MMP9 ENG ANGPT2 ACVRL1
37 adenocarcinoma 29.6 VEGFA SMAD4 PTEN MMP9 MAP2K1 HRAS
38 heart disease 29.5 VEGFA TEK SMAD4 PTEN MMP9 MAP2K1
39 endometrial cancer 29.4 VEGFA TGFBR1 SMAD4 PTEN MMP9 HRAS
40 esophageal cancer 29.2 VEGFA SMAD4 PTEN MMP9 LRRC56 HRAS
41 vein of galen aneurysm 11.4
42 pulmonary arteriovenous fistulas 11.4
43 mandibular arteriovenous malformation 11.3
44 facial arteriovenous malformation 11.3
45 maxillary arteriovenous malformation 11.3
46 telangiectasia, hereditary hemorrhagic, type 4 11.3
47 telangiectasia, hereditary hemorrhagic, type 5 11.3
48 rare arteriovenous malformation 11.2
49 histiocytoid hemangioma 11.1
50 frontonasal arteriovenous malformation 11.1

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; back pain; angina pectoris; chest pain; headache; syncope; edema; pain; chronic pain; sciatica; vertigo/dizziness; sleeplessness

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.17 HRAS
2 Decreased viability GR00055-A-2 10.17 HRAS
3 Decreased viability GR00107-A-1 10.17 MAP2K1
4 Decreased viability GR00173-A 10.17 BMPR2
5 Decreased viability GR00221-A-1 10.17 ACVRL1 BMPR2 EPHB4 HRAS TGFBR1
6 Decreased viability GR00221-A-2 10.17 ACVRL1 EPHB4 HRAS
7 Decreased viability GR00221-A-3 10.17 ACVRL1 BMPR2 HRAS RASA1 MAP2K1 TEK
8 Decreased viability GR00221-A-4 10.17 ACVRL1 BMPR2 EPHB4 TGFBR1 RASA1
9 Decreased viability GR00249-S 10.17 BMPR2 TGFBR1
10 Decreased viability GR00301-A 10.17 BMPR2 EPHB4
11 Decreased viability GR00381-A-1 10.17 RASA1
12 Decreased viability GR00386-A-1 10.17 RASA1
13 Decreased viability GR00402-S-2 10.17 EPHB4 TGFBR1 TEK
14 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 PTEN

MGI Mouse Phenotypes related to Arteriovenous Malformation:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.49 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG EPHB4
2 growth/size/body region MP:0005378 10.41 ACVRL1 BMPR2 EFNB2 ENG EPHB4 HRAS
3 mortality/aging MP:0010768 10.39 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG EPHB4
4 homeostasis/metabolism MP:0005376 10.38 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG HRAS
5 embryo MP:0005380 10.37 ACVRL1 BMPR2 EFNB2 ENG EPHB4 MAP2K1
6 digestive/alimentary MP:0005381 10.31 ACVRL1 ANGPT2 EFNB2 ENG HRAS MAP2K1
7 hematopoietic system MP:0005397 10.27 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG MMP9
8 integument MP:0010771 10.27 ANGPT2 BMPR2 EFNB2 ENG HRAS MAP2K1
9 muscle MP:0005369 10.25 ACVRL1 BMPR2 EFNB2 ENG EPHB4 HRAS
10 nervous system MP:0003631 10.2 ACVRL1 BMPR2 EFNB2 ENG HRAS MAP2K1
11 craniofacial MP:0005382 10.15 ACVRL1 EFNB2 ENG HRAS MAP2K1 RASA1
12 normal MP:0002873 10.07 ACVRL1 BMPR2 EFNB2 ENG HRAS MAP2K1
13 neoplasm MP:0002006 9.97 HRAS MAP2K1 MMP9 PDCD10 PTEN SMAD4
14 renal/urinary system MP:0005367 9.85 ACVRL1 BMPR2 EFNB2 EPHB4 HRAS MMP9
15 respiratory system MP:0005388 9.65 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG HRAS
16 vision/eye MP:0005391 9.36 ANGPT2 BMPR2 EFNB2 MAP2K1 MMP9 NOTCH4

Drugs & Therapeutics for Arteriovenous Malformation

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

(show top 50) (show all 69)
# 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
Ethiodized oil Approved, Investigational Phase 4 8008-53-5
4 Anesthetics Phase 4
5 Adrenergic alpha-Agonists Phase 4
6 Hypnotics and Sedatives Phase 4
7 Narcotics Phase 4
8 Anesthetics, General Phase 4
9 Anesthetics, Intravenous Phase 4
10 Analgesics Phase 4
11 Adrenergic Agents Phase 4
12 Adrenergic Agonists Phase 4
13 Analgesics, Opioid Phase 4
14 Neurotransmitter Agents Phase 4
15 Analgesics, Non-Narcotic Phase 4
16
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
17
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
19
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
20
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
23
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
24
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
25
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
26
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
27 Angiogenesis Inhibitors Phase 2
28 Anti-Bacterial Agents Phase 2
29 Anti-Infective Agents Phase 2
30 Pharmaceutical Solutions Phase 2
31 Methylprednisolone Acetate Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Immunosuppressive Agents Phase 2
34 Immunologic Factors Phase 2
35 Antifungal Agents Phase 2
36 Anticholesteremic Agents Phase 2
37 Antimetabolites Phase 2
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
39 Dihydromevinolin Phase 2
40 Hypolipidemic Agents Phase 2
41 L 647318 Phase 2
42 Lipid Regulating Agents Phase 2
43
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
44
Minocycline Approved, Investigational Phase 1 10118-90-8 5281021
45
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
46
Bevacizumab Approved, Investigational Phase 1 216974-75-3
47 Antiparasitic Agents Phase 1
48 Antimalarials Phase 1
49 Antiprotozoal Agents Phase 1
50 Antineoplastic Agents, Immunological Phase 1

Interventional clinical trials:

(show top 50) (show all 93)
# 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 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
3 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
4 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
5 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
6 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
7 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
8 A Safety and Efficacy Trial of Circumferential Anal Canal Radiofrequency Ablation for High-Grade Anal Intraepithelial Neoplasia Using the BARRX™ Anorectal Wand Unknown status NCT03302858 Phase 2
9 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
10 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
11 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
12 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults - a Prospective Swedish Multicentre Study Recruiting NCT02797366 Phase 2
13 Lovastatin for Treatment of Brain Arteriovenous Malformations:a Double-blind, Placebo-controlled Randomized Trial Not yet recruiting NCT04297033 Phase 2 Lovastatin;Placebo
14 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
15 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
16 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
17 Bevacizumab Therapy for Brain Arteriovenous Malformation Completed NCT02314377 Phase 1 Bevacizumab
18 The Efficacy of Multimodal Magnetic Resonance Imaging Techniques in Assessing the Surgical Risk for Eloquent Arteriovenous Malformations Unknown status NCT02868008
19 A Nationwide Treatment Survey of Intracranial Arteriovenous Malformation: a Multicenter Retrospective and Prospective Register Study in China Unknown status NCT01803685
20 Prospective, Multicenter, Multinational Study to Assess the Safety and Performance of the Easyx Antia Liquid Embolic in Intracranial Interventions IDEALE Study Unknown status NCT02863133
21 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
22 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
23 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916
24 Genetics of Arteriovenous Malformations Unknown status NCT02445430
25 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
26 Effects of Dexmedetomidine on Post-operative Blood Pressure in Patients Undergoing Brain Arteriovenous Malformation Embolization Unknown status NCT03076099 Dexmedetomidine
27 Study on Benefits and Risks of Hybrid Operation in the Treatment of Complex Brain Arteriovenous Malformations Unknown status NCT03774017
28 Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations Unknown status NCT00230620
29 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
30 Surgical Intervention of Spinal Arteriovenous Malformations and Fistulas: Multicenter Prospective Cohort Study Unknown status NCT03024749
31 NIRS Monitoring During Intracranial Interventions Unknown status NCT03367975
32 Multicenter Validation of the AVICH Score Unknown status NCT02920645
33 Safety of Apollo Embolization Delivery Micro Catheter in Pediatric Patients With Vascular Malformations Completed NCT02085278
34 Effect of Bilateral Scalp Nerve Blocks on Post-operative Pain and Discharge Times in Patients Undergoing Supra-tentorial Craniotomy and General Anaesthesia Completed NCT00972790
35 Morphological and Dynamic Non Contrast-enhanced MR Angiography in the Exploration of Neurovascular Diseases Completed NCT01566903
36 Studies of Hereditary Hemorrhagic Telangiectasia: Screening Methods for Pulmonary Arteriovenous Malformations; Prevalence of Pulmonary and Cerebral Arteriovenous Malformations; Prevalence of Cardiac Valve Abnormalities; and Identification of Modifier Genes Completed NCT00004648
37 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Retrospective Study Concerning the Safety for Heart and Brain Completed NCT03281395
38 Treatment of Cerebral Arteriovenous Malformations With SQUID™ Liquid Embolic Agent Completed NCT02602990
39 Protocol for Staged Stereotactic Radiosurgery for Large Arteriovenous Malformations Completed NCT02576535
40 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Completed NCT03209804
41 Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT): Correlations Between Computed Tomography Findings and Cerebral Complications Completed NCT03940014
42 Fertility After Diagnosis and Management of Acquired Uterine Arteriovenous Malformation Completed NCT03656211
43 XRES4 Neuro Claim Study Completed NCT01381952
44 Apollo™ Onyx™ Delivery Microcatheter Post Market Safety Study Completed NCT02378883
45 Endovascular Management of Pediatric Intracranial Arteriovenous Shunts Completed NCT03950258
46 Reperfusion of Pulmonary Arteriovenous Malformations After Embolotherapy. A Randomized Trial of Interlock™ Fibered IDC™ Occlusion System vs. Nester Coils Completed NCT01856842
47 A Review of Surgical Management of Congenital Pulmonary Airway Malformations (CPAM): A Decade of Experience Completed NCT04449614
48 Hippocampal Radiation Exposure and Memory: A Pilot Study Completed NCT00603694
49 Correlation of Graded Transthoracic Contrast Echocardiography With Chest CT Findings After Pulmonary Arteriovenous Malformation Embolization in Patients With Hereditary Hemorrhagic Telangiectasia, 2016 Completed NCT02936349
50 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Completed NCT01689402

Search NIH Clinical Center for Arteriovenous Malformation

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Arteriovenous Malformation cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Arteriovenous Malformation:
VASCUGEL, aortic endothelial cells for vascular injury and disease
Embryonic/Adult Cultured Cells Related to Arteriovenous Malformation:
Aortic endothelial cells cultured in matrix PMIDs: 7667257
Aortic endothelial cells cultured in matrix (VASCUGEL) PMIDs: 7667257

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:

40
Spinal Cord, Brain, Endothelial, Heart, Kidney, Cortex, Skin

Publications for Arteriovenous Malformation

Articles related to Arteriovenous Malformation:

(show top 50) (show all 14348)
# Title Authors PMID Year
1
Somatic mutations in intracranial arteriovenous malformations. 61 6
31891627 2019
2
Fast TWIST with iterative reconstruction improves diagnostic accuracy of AVM of the hand. 42 61
33004952 2020
3
Clinical and imaging features of intraosseous arteriovenous malformations in jaws: a 15-year experience of single centre. 61 42
32694548 2020
4
Treatment of gastrointestinal bleeding in left ventricular assist devices: A comprehensive review. 61 42
32523310 2020
5
Pathogenesis of arteriovenous malformations in the absence of endoglin. 54 61
20224041 2010
6
[Pulmonary hypertension in hereditary haemorrhagic teleangiectasia]. 54 61
19790036 2009
7
Endoglin is dispensable for angiogenesis, but required for endocardial cushion formation in the midgestation mouse embryo. 54 61
19703439 2009
8
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. 61 54
19508727 2009
9
Brain arteriovenous malformation biology relevant to hemorrhage and implication for therapeutic development. 54 61
19064791 2009
10
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. 61 54
18285823 2008
11
Altered endothelial gene expression associated with hereditary haemorrhagic telangiectasia. 61 54
17576210 2007
12
[The expression and role of glucose transporter-1 in infantile hemangioma]. 61 54
17554865 2007
13
Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). 61 54
17641482 2007
14
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. 61 54
16776339 2006
15
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. 54 61
16705692 2006
16
[Expression of TGFbeta1 and its type I receptors ALK1 and ALK5 mRNA in brain arteriovenous malformation]. 54 61
16762882 2006
17
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 54 61
16470787 2006
18
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. 61 54
16542389 2006
19
Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. 61 54
16179574 2005
20
Expression of drug resistance proteins Pgp, MRP1, MRP3, MRP5 and GST-pi in human glioma. 61 54
16193381 2005
21
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. 54 61
16059938 2005
22
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 61 54
15031030 2004
23
Vascular endothelial growth factor induces abnormal microvasculature in the endoglin heterozygous mouse brain. 54 61
14747750 2004
24
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. 54 61
12920067 2003
25
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. 61 54
12673790 2003
26
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). 61 54
11773580 2002
27
Further study of CD31 protein and messenger ribonucleic acid expression in human cerebral vascular malformations. 61 54
11844241 2002
28
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. 54 61
10702408 2000
29
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. 61 54
10625079 2000
30
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. 54 61
9366572 1997
31
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 54 61
8728706 1996
32
Semiautomatic cerebrovascular territory mapping based on dynamic ASL MR angiography without vessel-encoded labeling. 61
33347641 2021
33
Arteriovenous malformations: the newest Sonic hedgehog game in the postnatal brain. 61
33229750 2021
34
A zebrafish toolbox for biomechanical signaling in cardiovascular development and disease. 61
33714969 2021
35
Embolization of uterine arteriovenous malformation causing postpartum hemorrhage using n-butyl cyanoacrylate: A case report. 61
33777284 2021
36
Solid vs. cystic predominance in posterior fossa hemangioblastomas: implications for cerebrovascular risks and patient outcome. 61
33811520 2021
37
Complex cardiac vascular malformation: Natures own CABG. 61
33552347 2021
38
Multimodal management of ruptured cerebral micro-arteriovenous malformations: A retrospective series of 19 cases and a review of the literature. 61
33189739 2021
39
How to Treat Peripheral Arteriovenous Malformations. 61
33543847 2021
40
Complete flow control using transient concurrent rapid ventricular pacing or intravenous adenosine and afferent arterial balloon occlusion during transvenous embolization of cerebral arteriovenous malformations: case series. 61
33593797 2021
41
RNF213 rare variants and cerebral arteriovenous malformation in a Chinese population. 61
33706059 2021
42
Trends in Incidence of Intracranial and Spinal Arteriovenous Shunts: Hospital-Based Surveillance in Okayama, Japan. 61
33596673 2021
43
The Stanford stereotactic radiosurgery experience on 7000 patients over 2 decades (1999-2018): looking far beyond the scalpel. 61
33799297 2021
44
Role of the ophthalmic artery in the endovascular treatment for intracranial vascular diseases. 61
33400225 2021
45
Endovascular approach for arteriovenous limb malformations: a single center experience. 61
33496159 2021
46
Management of haemorrhagic stroke secondary to arteriovenous malformations in childhood. 61
33409615 2021
47
Arteriovenous malformation surgery in children: the Rady Children's Hospital experience (2002-2019). 61
33404725 2021
48
Tortuosity of superior cerebral veins: Comparative magnetic resonance imaging morphometrics in normal subjects and arteriovenous malformation patients. 61
32196753 2021
49
Successful retrograde transvenous embolization under balloon occlusion for rectal arteriovenous malformation. 61
33420667 2021
50
[Bilateral diffuse congenital pulmonary arteriovenous malformation in a neonate]. 61
33775054 2021

Variations for Arteriovenous Malformation

ClinVar genetic disease variations for Arteriovenous Malformation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HRAS , LRRC56 NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) Indel Pathogenic 690298 rs1589792836 GRCh37: 11:533879-533884
GRCh38: 11:533879-533884
2 GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) SNV Uncertain significance 523482 rs1332140763 GRCh37: 2:121746134-121746134
GRCh38: 2:120988558-120988558
3 CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) SNV Uncertain significance 523531 rs772718469 GRCh37: 16:1270816-1270816
GRCh38: 16:1220816-1220816
4 ADGRV1 NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) SNV Uncertain significance 523543 rs1554079046 GRCh37: 5:89971137-89971137
GRCh38: 5:90675320-90675320

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 top 50) (show all 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 VEGFA TGFBR1 TEK SMAD4 MMP9 MAP2K1
2
Show member pathways
13.7 TGFBR1 TEK SMAD4 MAP2K1 HRAS EPHB4
3
Show member pathways
13.56 VEGFA TGFBR1 TEK SMAD4 MAP2K1 HRAS
4
Show member pathways
13.54 VEGFA TGFBR1 TEK SMAD4 RASA1 PTEN
5
Show member pathways
13.5 VEGFA TEK SMAD4 RASA1 MMP9 MAP2K1
6
Show member pathways
13.42 TGFBR1 TEK PTEN HRAS EPHB4 BMPR2
7
Show member pathways
13.24 TGFBR1 TEK SMAD4 PTEN NOTCH4 HRAS
8
Show member pathways
12.98 VEGFA TEK PTEN NOTCH4 MAP2K1 HRAS
9
Show member pathways
12.87 VEGFA TGFBR1 PTEN MAP2K1 HRAS
10
Show member pathways
12.77 TGFBR1 SMAD4 PTEN NOTCH4 MAP2K1 HRAS
11
Show member pathways
12.74 VEGFA TEK RASA1 MAP2K1 HRAS ANGPT2
12
Show member pathways
12.73 VEGFA TGFBR1 SMAD4 PTEN MMP9 MAP2K1
13
Show member pathways
12.7 PTEN NOTCH4 MMP9 MAP2K1 HRAS
14 12.7 VEGFA TGFBR1 SMAD4 PTEN NOTCH4 MMP9
15 12.69 VEGFA TGFBR1 TEK RASA1 MAP2K1 HRAS
16
Show member pathways
12.61 VEGFA RASA1 PTEN MAP2K1 HRAS
17
Show member pathways
12.51 VEGFA RASA1 MMP9 HRAS EPHB4 EFNB2
18
Show member pathways
12.47 RASA1 PTEN MAP2K1 HRAS
19
Show member pathways
12.43 RASA1 PTEN MAP2K1 HRAS
20
Show member pathways
12.42 VEGFA RASA1 MAP2K1 HRAS
21
Show member pathways
12.42 TEK RASA1 MAP2K1 HRAS EPHB4
22
Show member pathways
12.41 RASA1 HRAS EPHB4 EFNB2
23
Show member pathways
12.37 VEGFA PTEN MAP2K1 HRAS
24 12.36 VEGFA PTEN NOTCH4 MMP9 MAP2K1 HRAS
25 12.35 TGFBR1 SMAD4 PTEN MAP2K1 HRAS
26
Show member pathways
12.33 TGFBR1 PTEN MAP2K1 HRAS
27 12.32 VEGFA MMP9 MAP2K1 HRAS
28 12.24 TGFBR1 SMAD4 NOTCH4 ENG BMPR2
29 12.23 RASA1 HRAS EPHB4 EFNB2 BMPR2
30 12.21 RASA1 PTEN MAP2K1 HRAS
31 12.18 TGFBR1 PTEN MAP2K1 HRAS
32 12.18 VEGFA TGFBR1 SMAD4 MMP9 MAP2K1
33
Show member pathways
12.16 RASA1 PTEN MAP2K1 HRAS
34 12.14 TEK EPHB4 EFNB2 ANGPT2
35 12.13 VEGFA TGFBR1 SMAD4 PTEN BMPR2
36 12.12 SMAD4 MAP2K1 HRAS BMPR2
37 12.1 TGFBR1 SMAD4 MAP2K1 HRAS
38
Show member pathways
12.04 TGFBR1 SMAD4 PTEN MAP2K1 HRAS
39 11.98 VEGFA TEK MAP2K1 ANGPT2
40 11.97 SMAD4 PTEN MAP2K1 HRAS
41 11.93 VEGFA TGFBR1 SMAD4 HRAS
42
Show member pathways
11.91 RASA1 MAP2K1 HRAS
43 11.89 TGFBR1 SMAD4 BMPR2
44
Show member pathways
11.88 VEGFA RASA1 HRAS
45 11.84 TGFBR1 SMAD4 MAP2K1 ENG ACVRL1
46 11.82 SMAD4 PDCD10 MMP9
47
Show member pathways
11.79 TGFBR1 SMAD4 BMPR2
48 11.76 VEGFA MMP9 MAP2K1 HRAS
49 11.75 TGFBR1 SMAD4 MAP2K1 HRAS
50 11.74 SMAD4 MAP2K1 HRAS

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 plasma membrane GO:0005886 9.83 TGFBR1 TEK SLC12A9 RASA1 PTEN PDCD10
2 cell surface GO:0009986 9.7 VEGFA TGFBR1 TEK NOTCH4 ENG BMPR2
3 receptor complex GO:0043235 9.1 TGFBR1 TEK EPHB4 ENG BMPR2 ACVRL1

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

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.15 TGFBR1 TEK MAP2K1 EPHB4 BMPR2 ACVRL1
2 protein phosphorylation GO:0006468 10.14 TGFBR1 TEK MAP2K1 EPHB4 BMPR2 ACVRL1
3 positive regulation of cell proliferation GO:0008284 10.12 VEGFA TGFBR1 PTEN PDCD10 HRAS EFNB2
4 negative regulation of cell proliferation GO:0008285 10.1 SMAD4 PTEN MAP2K1 HRAS ACVRL1
5 negative regulation of apoptotic process GO:0043066 10.05 VEGFA TGFBR1 TEK RASA1 PTEN PDCD10
6 positive regulation of gene expression GO:0010628 10.02 VEGFA TGFBR1 PTEN PDCD10 MAP2K1 HRAS
7 in utero embryonic development GO:0001701 10.01 VEGFA TGFBR1 SMAD4 ACVRL1
8 positive regulation of cell migration GO:0030335 10.01 VEGFA TGFBR1 PDCD10 MMP9 HRAS
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.99 VEGFA TEK PTEN MAP2K1 HRAS
10 positive regulation of protein kinase B signaling GO:0051897 9.98 VEGFA TGFBR1 TEK ENG
11 negative regulation of gene expression GO:0010629 9.97 VEGFA PDCD10 MAP2K1 HRAS ENG ACVRL1
12 positive regulation of protein phosphorylation GO:0001934 9.96 VEGFA TEK MMP9 HRAS ENG
13 heart development GO:0007507 9.93 TGFBR1 TEK PTEN MAP2K1 ENG ACVRL1
14 transforming growth factor beta receptor signaling pathway GO:0007179 9.92 TGFBR1 SMAD4 ENG ACVRL1
15 positive regulation of angiogenesis GO:0045766 9.92 VEGFA TEK ENG ANGPT2 ACVRL1
16 positive regulation of endothelial cell migration GO:0010595 9.88 VEGFA TEK BMPR2
17 BMP signaling pathway GO:0030509 9.88 SMAD4 ENG BMPR2 ACVRL1
18 vasculogenesis GO:0001570 9.87 VEGFA RASA1 ENG
19 positive regulation of MAP kinase activity GO:0043406 9.86 VEGFA PDCD10 HRAS
20 epithelial to mesenchymal transition GO:0001837 9.85 TGFBR1 NOTCH4 ENG
21 cellular response to growth factor stimulus GO:0071363 9.84 TGFBR1 BMPR2 ANGPT2 ACVRL1
22 negative regulation of endothelial cell proliferation GO:0001937 9.83 TGFBR1 ENG ACVRL1
23 cellular response to BMP stimulus GO:0071773 9.82 SMAD4 BMPR2 ACVRL1
24 ventricular septum morphogenesis GO:0060412 9.81 TGFBR1 SMAD4 BMPR2
25 sprouting angiogenesis GO:0002040 9.8 VEGFA TEK ENG
26 branching involved in blood vessel morphogenesis GO:0001569 9.8 VEGFA NOTCH4 ENG
27 outflow tract septum morphogenesis GO:0003148 9.78 SMAD4 ENG BMPR2
28 artery morphogenesis GO:0048844 9.77 VEGFA TGFBR1 ENG
29 cell migration involved in sprouting angiogenesis GO:0002042 9.75 VEGFA EPHB4 EFNB2
30 activin receptor signaling pathway GO:0032924 9.74 TGFBR1 BMPR2 ACVRL1
31 negative regulation of DNA biosynthetic process GO:2000279 9.73 BMPR2 ACVRL1
32 ventricular trabecula myocardium morphogenesis GO:0003222 9.73 TGFBR1 ENG
33 cell motility GO:0048870 9.73 TGFBR1 PTEN MAP2K1 ENG
34 response to hypoxia GO:0001666 9.73 VEGFA TEK SMAD4 ENG ANGPT2 ACVRL1
35 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 SMAD4 ENG
36 lymphangiogenesis GO:0001946 9.72 BMPR2 ACVRL1
37 response to transforming growth factor beta GO:0071559 9.72 SMAD4 ENG
38 negative regulation of cell-cell adhesion mediated by cadherin GO:2000048 9.72 VEGFA NOTCH4
39 positive regulation of cellular component movement GO:0051272 9.72 VEGFA TGFBR1
40 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 TGFBR1 BMPR2 ACVRL1
41 ephrin receptor signaling pathway GO:0048013 9.72 RASA1 MMP9 HRAS EPHB4 EFNB2
42 endothelial cell activation GO:0042118 9.71 TGFBR1 SMAD4
43 artery development GO:0060840 9.71 BMPR2 ACVRL1
44 negative regulation of endothelial cell differentiation GO:0045602 9.71 NOTCH4 ACVRL1
45 positive regulation of BMP signaling pathway GO:0030513 9.71 SMAD4 ENG BMPR2 ACVRL1
46 retina vasculature development in camera-type eye GO:0061298 9.7 BMPR2 ACVRL1
47 coronary artery morphogenesis GO:0060982 9.7 VEGFA TGFBR1
48 dorsal aorta morphogenesis GO:0035912 9.7 ENG ACVRL1
49 positive regulation of axon extension involved in axon guidance GO:0048842 9.69 VEGFA BMPR2
50 regulation of axon regeneration GO:0048679 9.69 PTEN MAP2K1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.49 VEGFA TGFBR1 TEK SMAD4 RASA1 PTEN
2 kinase activity GO:0016301 9.93 TGFBR1 TEK MAP2K1 EPHB4 BMPR2 ACVRL1
3 protein kinase activity GO:0004672 9.8 TGFBR1 TEK MAP2K1 EPHB4 BMPR2 ACVRL1
4 I-SMAD binding GO:0070411 9.54 TGFBR1 SMAD4
5 growth factor binding GO:0019838 9.54 TGFBR1 TEK BMPR2
6 BMP binding GO:0036122 9.52 ENG BMPR2
7 type II transforming growth factor beta receptor binding GO:0005114 9.49 TGFBR1 ENG
8 BMP receptor activity GO:0098821 9.48 BMPR2 ACVRL1
9 activin receptor activity, type I GO:0016361 9.43 TGFBR1 ACVRL1
10 transforming growth factor beta binding GO:0050431 9.43 TGFBR1 ENG ACVRL1
11 transforming growth factor beta receptor activity, type I GO:0005025 9.4 TGFBR1 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 transforming growth factor beta-activated receptor activity GO:0005024 8.92 TGFBR1 ENG BMPR2 ACVRL1

Sources for Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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