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BAVM
MCID: ART141
MIFTS: 61

Arteriovenous Malformations of the Brain (BAVM)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Arteriovenous Malformations of the Brain

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MalaCards integrated aliases for Arteriovenous Malformations of the Brain:

Name: Arteriovenous Malformations of the Brain 56 12 15
Cerebral Arteriovenous Malformation 12 52 58 29 6 39
Intracranial Arteriovenous Malformation 12 52 58 71
Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Susceptibility to 56 13 6
Intracranial Arteriovenous Malformations 74 43
Intracranial Hemorrhage in Brain Cerebrovascular Malformations 56
Arteriovenous Malformation of the Brain, Somatic 56
Cerebral Arteriovenous Malformations 56
Arteriovenous Malformations Cerebral 54
Intracranial Avm 52
Bavm 56

Characteristics:

Orphanet epidemiological data:

58
cerebral arteriovenous malformation
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
somatic mutation


HPO:

31
arteriovenous malformations of the brain:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060688
OMIM 56 108010
MeSH 43 D002538
ICD10 32 Q28.2
MESH via Orphanet 44 D002538
ICD10 via Orphanet 33 Q28.2
UMLS via Orphanet 72 C0007772 C0917804
Orphanet 58 ORPHA46724
MedGen 41 C0917804
SNOMED-CT via HPO 68 234142008 263681008
UMLS 71 C0007772
Sources

Summaries for Arteriovenous Malformations of the Brain

About this section
NIH Rare Diseases : 52 Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery .

MalaCards based summary : Arteriovenous Malformations of the Brain, also known as cerebral arteriovenous malformation, is related to cerebral cavernous malformations and arteriovenous malformation. An important gene associated with Arteriovenous Malformations of the Brain is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are ERK Signaling and MAPK signaling pathway. The drugs Lovastatin and Dihydromevinolin have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and heart, and related phenotypes are abnormality of the cerebral vasculature and visceral angiomatosis

Disease Ontology : 12 A central nervous system benign neoplasm that derives from endothelial cells and that is located in the brain.

OMIM : 56 Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018). (108010)

Wikipedia : 74 A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM) is an abnormal connection between the... more...

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Related Diseases for Arteriovenous Malformations of the Brain

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Diseases related to Arteriovenous Malformations of the Brain via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 257)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 32.5 TEK PDCD10 KDR FLT1 ENG
2 arteriovenous malformation 31.8 TEK RASA1 PDCD10 KRAS IL6 ENG
3 weber syndrome 30.8 RASA1 ENG ACVRL1
4 pulmonary arteriovenous malformation 30.7 ENG ACVRL1
5 pulmonary hypertension 30.7 TEK KDR IL6 ENG ACVRL1
6 intracranial aneurysm 30.6 STARD13 SOX17 RBBP8 ENG CNNM2 CDKN2B-AS1
7 klippel-trenaunay-weber syndrome 30.5 TEK RASA1 PDCD10
8 telangiectasis 30.5 RASA1 ENG ACVRL1
9 lymphangioma 30.5 KRAS KDR IL6
10 noonan syndrome with multiple lentigines 30.5 RASA1 KRAS BRAF
11 angiosarcoma 30.4 TEK KRAS KDR FLT1
12 hemangioma 30.2 TEK PDCD10 KRAS KDR FLT1 ENG
13 vascular disease 30.2 TEK PDCD10 KDR IL6 ENG ACVRL1
14 capillary malformation-arteriovenous malformation 1 11.3
15 wyburn-mason syndrome 11.3
16 urachal adenocarcinoma 10.6 KRAS BRAF
17 hyperplastic polyposis syndrome 10.6 KRAS BRAF
18 apocrine adenoma 10.6 KRAS BRAF
19 septate uterus 10.6 KDR FLT1
20 visual epilepsy 10.6
21 acneiform dermatitis 10.6 KRAS BRAF
22 cerebral arterial disease 10.6 SOX17 IL6 CDKN2B-AS1
23 angiokeratoma of mibelli 10.6 KDR FLT1
24 heritable pulmonary arterial hypertension 10.5 SOX17 ENG ACVRL1
25 glomeruloid hemangioma 10.5 IL6 FLT1 ENG
26 syringocystadenoma papilliferum 10.5 KRAS BRAF
27 lung non-squamous non-small cell carcinoma 10.5 KRAS KDR FLT1
28 pyogenic granuloma 10.5 TEK KRAS
29 exanthem 10.5 KRAS KDR IL6
30 hydrocephalus 10.5
31 hereditary hemorrhagic telangiectasia 10.5
32 macular retinal edema 10.5 KDR IL6 FLT1
33 retinal vascular occlusion 10.5 KDR IL6 FLT1
34 retinal artery occlusion 10.5 KDR IL6 FLT1
35 vascular cancer 10.5 KDR FLT1 ENG
36 peripheral artery disease 10.5 IL6 ENG CDKN2B-AS1
37 diabetic macular edema 10.5 TEK IL6 FLT1
38 kuhnt-junius degeneration 10.5 TEK KDR FLT1
39 cardiofaciocutaneous syndrome 1 10.5 RASA1 KRAS BRAF
40 cardiovascular cancer 10.5 TEK KDR FLT1
41 ovarian hyperstimulation syndrome 10.5 KDR IL6 FLT1
42 placenta accreta 10.5 TEK KDR FLT1
43 degeneration of macula and posterior pole 10.4 KDR IL6 FLT1
44 corneal neovascularization 10.4 TEK KDR FLT1
45 limb ischemia 10.4 TEK KDR IL6
46 suppression of tumorigenicity 12 10.4 KRAS KDR IL6 BRAF
47 eclampsia 10.4 IL6 FLT1 ENG
48 breast carcinoma in situ 10.4 KDR IL6 FLT1
49 intussusception 10.4 TEK KDR IL6 FLT1
50 venous malformations, multiple cutaneous and mucosal 10.4 TEK RASA1 PDCD10 ACVRL1

Graphical network of the top 20 diseases related to Arteriovenous Malformations of the Brain:



Diseases related to Arteriovenous Malformations of the Brain
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Symptoms & Phenotypes for Arteriovenous Malformations of the Brain

About this section

Human phenotypes related to Arteriovenous Malformations of the Brain:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
2 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
3 peripheral arteriovenous fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0100784
4 cerebral arteriovenous malformation 31 HP:0002408

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
cerebral arteriovenous malformation

Clinical features from OMIM:

108010

GenomeRNAi Phenotypes related to Arteriovenous Malformations of the Brain according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.35 ACVRL1
2 Decreased substrate adherent cell growth GR00193-A-3 9.35 BRAF
3 Decreased substrate adherent cell growth GR00193-A-4 9.35 ACVRL1 BRAF KDR
4 Decreased cell migration GR00055-A-1 9.33 FLT1
5 Decreased cell migration GR00055-A-3 9.33 BRAF
6 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.32 ACVRL1

MGI Mouse Phenotypes related to Arteriovenous Malformations of the Brain:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 ACVRL1 BRAF CNNM2 ENG FLT1 IL6
2 embryo MP:0005380 10.37 ACVRL1 BRAF CNNM2 ENG FLT1 KDR
3 growth/size/body region MP:0005378 10.32 ACVRL1 BRAF CNNM2 ENG FLT1 IL6
4 cellular MP:0005384 10.31 BRAF FLT1 IL6 KDR KRAS LEMD3
5 mortality/aging MP:0010768 10.3 ACVRL1 BRAF CNNM2 ENG FLT1 IL6
6 hematopoietic system MP:0005397 10.2 ACVRL1 BRAF ENG FLT1 IL6 KDR
7 immune system MP:0005387 10.17 BRAF FLT1 IL6 KDR KRAS PDCD10
8 craniofacial MP:0005382 10.13 ACVRL1 BRAF CNNM2 ENG KDR KRAS
9 muscle MP:0005369 10.1 ACVRL1 BRAF ENG FLT1 IL6 KDR
10 digestive/alimentary MP:0005381 10.05 ACVRL1 BRAF ENG IL6 KRAS RASA1
11 nervous system MP:0003631 10 ACVRL1 BRAF ENG FLT1 IL6 KDR
12 liver/biliary system MP:0005370 9.95 ACVRL1 BRAF IL6 KDR KRAS SMG9
13 normal MP:0002873 9.81 ACVRL1 BRAF ENG FLT1 KDR KRAS
14 respiratory system MP:0005388 9.5 ACVRL1 BRAF ENG IL6 KDR KRAS
15 vision/eye MP:0005391 9.28 BRAF FLT1 IL6 KDR KRAS PDCD10
Sources

Drugs & Therapeutics for Arteriovenous Malformations of the Brain

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Drugs for Arteriovenous Malformations of the Brain (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
2 Dihydromevinolin Phase 2
3 Hypolipidemic Agents Phase 2
4 Lipid Regulating Agents Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
6 Anticholesteremic Agents Phase 2
7 L 647318 Phase 2
8 Antimetabolites Phase 2
9
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
10
Minocycline Approved, Investigational Phase 1 10118-90-8 5281021
11
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
12
Bevacizumab Approved, Investigational Phase 1 216974-75-3
13 Antiparasitic Agents Phase 1
14 Anti-Bacterial Agents Phase 1
15 Antiprotozoal Agents Phase 1
16 Anti-Infective Agents Phase 1
17 Antimalarials Phase 1
18 Angiogenesis Inhibitors Phase 1
19 Antineoplastic Agents, Immunological Phase 1
20
Ethanol Approved 64-17-5 702
21
Heparin Approved, Investigational 9005-49-6 46507594 772
22
Zinc Approved, Investigational 7440-66-6 32051
23 Fibrinolytic Agents
24 Anticoagulants
25 Calcium, Dietary
26 calcium heparin
27
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 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
2 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
3 Lovastatin for Treatment of Brain Arteriovenous Malformations:a Double-blind, Placebo-controlled Randomized Trial Not yet recruiting NCT04297033 Phase 2 Lovastatin;Placebo
4 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
5 Bevacizumab Therapy for Brain Arteriovenous Malformation Completed NCT02314377 Phase 1 Bevacizumab
6 A Nationwide Treatment Survey of Intracranial Arteriovenous Malformation: a Multicenter Retrospective and Prospective Register Study in China Unknown status NCT01803685
7 NIRS Monitoring During Intracranial Interventions Unknown status NCT03367975
8 The Efficacy of Multimodal Magnetic Resonance Imaging Techniques in Assessing the Surgical Risk for Eloquent Arteriovenous Malformations Unknown status NCT02868008
9 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Unknown status NCT01689402
10 Prospective, Multicenter, Multinational Study to Assess the Safety and Performance of the Easyx Antia Liquid Embolic in Intracranial Interventions IDEALE Study Unknown status NCT02863133
11 Treatment of Cerebral Arteriovenous Malformations With SQUIDâ„¢ Liquid Embolic Agent Completed NCT02602990
12 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Completed NCT03209804
13 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
14 Protocol for Staged Stereotactic Radiosurgery for Large Arteriovenous Malformations Completed NCT02576535
15 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Retrospective Study Concerning the Safety for Heart and Brain Completed NCT03281395
16 Treatment of Cerebral Arteriovenous Malformations With SQUID Liquid Embolic Agent - The CHOICE Study A Non-interventional, Prospective, Single-arm, International, Multicenter Study Recruiting NCT03413852
17 Biology of Cerebral Arteriovenous Malformations : Study of the Link Between Blood Biomarkers and the Haemorrhagic Prognosis of Cerebral Arteriovenous Malformations Recruiting NCT03676868
18 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870
19 Mechanism of Aphasia and Recovery of Language After the Injury of Geschwind's Territory: a Study Based on the Brain Network Analysis Recruiting NCT04295980
20 Study on the Long-term Outcomes of High-level Cerebral Arteriovenous Malformation Recruiting NCT04136860
21 MRI Evaluation of Nidus Occlusion After Gamma Knife Radiosurgery of Cerebral Arteriovenous Malformations - A Prospective Preliminary Study Recruiting NCT03995823
22 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10) Recruiting NCT01158807
23 Study of PHIL® Embolic System in the Treatment of Intracranial Dural Arteriovenous Fistulas in the Pediatric Population Recruiting NCT03731000
24 Treatment of Brain AVMs (TOBAS) Study: A Randomized Controlled Trial and Registry Recruiting NCT02098252
25 Transcatheter Leak Closure With Detachable Coils Following Incomplete Left Atrial Appendage Closure Procedures Recruiting NCT03503253
26 Multi-center，Single Blind，Prospective Randomized Controlled Trial of Exploration of Anticoagulation Program in Cerebral Aneurysm and Arteriovenous Malformations With Hybrid Operation Recruiting NCT03306836 Heparin Sodium;Heparin Sodium
27 Multi-center, Single-blind, Prospective Cohort Study of Exploration of Anticoagulation Program in Cerebral Aneurysm and Arteriovenous Malformations With Hybrid Operation Recruiting NCT03306823
28 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556
29 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Study Concerning the Safety for Heart and Brain Recruiting NCT03184233
30 PHIL Evaluation in the Endovascular Treatment of Intracranial Cerebral ArterioVenous Malformation a European Multi-center, Observational, Prospective, Single Arm and Open Label Study Active, not recruiting NCT03341039
31 Assessment of ONYX in Endovascular Cerebral AVM. Prospective, Multi-centre and Observational French Study. Active, not recruiting NCT02180958
32 Comparison of Imaging Quality Between Spectral Photon Counting Computed Tomography (SPCCT) and Dual Energy Computed Tomography (DECT) Not yet recruiting NCT04328181

Search NIH Clinical Center for Arteriovenous Malformations of the Brain

Cochrane evidence based reviews: intracranial arteriovenous malformations

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Genetic Tests for Arteriovenous Malformations of the Brain

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Genetic tests related to Arteriovenous Malformations of the Brain:

# Genetic test Affiliating Genes
1 Cerebral Arteriovenous Malformation 29 IL6 KRAS
Sources

Anatomical Context for Arteriovenous Malformations of the Brain

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The Foundational Model of Anatomy Ontology organs/tissues related to Arteriovenous Malformations of the Brain:

19
Brain

MalaCards organs/tissues related to Arteriovenous Malformations of the Brain:

40
Brain, Endothelial, Heart, T Cells, Testes, Cortex, Bone
Sources

Publications for Arteriovenous Malformations of the Brain

About this section

Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 906)
# Title Authors PMID Year
1
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. 6 56 61
29298116 2018
2
Interleukin-6 involvement in brain arteriovenous malformations. 6 56
16278864 2006
3
Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. 6 56
15331795 2004
4
Familial arteriovenous malformation of the brain. 61 56
7193302 1981
5
Soluble endoglin modulates aberrant cerebral vascular remodeling. 56
19670444 2009
6
Endothelial Notch4 signaling induces hallmarks of brain arteriovenous malformations in mice. 56
18667694 2008
7
Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. 6
17623760 2007
8
Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. 6
16150725 2005
9
Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes. 6
15472205 2004
10
Body mass index and C-174G interleukin-6 promoter polymorphism interact in predicting type 2 diabetes. 6
15070960 2004
11
Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females. 6
12719374 2003
12
Two promoter polymorphisms regulating interleukin-6 gene expression are associated with circulating levels of C-reactive protein and markers of bone resorption in postmenopausal women. 6
12519862 2003
13
The interleukin 6-174G/C polymorphism is associated with indices of obesity in men. 6
12560873 2003
14
The -597 G-->A and -174 G-->C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism. 6
11889177 2002
15
An IL6 promoter polymorphism is associated with a lifetime risk of development of Kaposi sarcoma in men infected with human immunodeficiency virus. 6
11001912 2000
16
Interleukin-6 gene polymorphism and lipid abnormalities in healthy subjects. 6
10720087 2000
17
The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. 6
9769329 1998
18
Familial occurrence of arteriovenous malformation of the brain. 56
2002372 1991
19
Familial arteriovenous malformations. Report of four cases in one family. 56
3973731 1985
20
Familial arteriovenous malformation. 56
475353 1979
21
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. 61 54
10702408 2000
22
Histopathology of brain AVMs part I: microhemorrhages and changes in the nidal vessels. 61
32399691 2020
23
Predictive factors of epilepsy in arteriovenous malformation. 61
32197972 2020
24
The Comaneci Device for Entering an Acute-Angled Small Feeder during Cerebral Arteriovenous Malformation Embolization: A Novel Technique to Support Microcatheterization. 61
32570303 2020
25
Microsurgery for Unruptured Cerebral Arteriovenous Malformations in the National Inpatient Sample is More Common Post-ARUBA. 61
32032786 2020
26
Hydrocephalus in children with ruptured cerebral arteriovenous malformation. 61
32442968 2020
27
N6-methyladenosine methyltransferase METTL3 affects the phenotype of cerebral arteriovenous malformation via modulating Notch signaling pathway. 61
32384926 2020
28
Efficacy of intraarterial superselective indocyanine green videoangiography in cerebral arteriovenous malformation surgery in a hybrid operating room. 61
32442970 2020
29
Radiosurgery for Cerebral Arteriovenous Malformation (AVM) : Current Treatment Strategy and Radiosurgical Technique for Large Cerebral AVM : Review Article. 61
32423182 2020
30
Silent MRA: arterial spin labeling magnetic resonant angiography with ultra-short time echo assessing cerebral arteriovenous malformation. 61
31898767 2020
31
Overview of the current concepts in the management of arteriovenous malformations of the brain. 61
32015188 2020
32
Arterial-spin labeling MRI identifies residual cerebral arteriovenous malformation following stereotactic radiosurgery treatment. 61
30658138 2020
33
[Coarctation of aorta in a neonate? It is not always what it seems: an illustrative case]. 61
31984714 2020
34
Glioblastoma Multiforme Associated with Arteriovenous Malformation: A Case Report and Literature Review. 61
32055129 2020
35
In situ clearance of a proximal shunt malfunction in a child with hydrocephalus post cerebral arteriovenous malformation rupture noted intraoperatively. 61
32494391 2020
36
[Arteriovenous malformations of the brain in children: treatment results for 376 patients]. 61
32412191 2020
37
Characterization of Endothelial Cells Associated with Cerebral Arteriovenous Malformation. 61
32368063 2020
38
[A Case of Ruptured Cerebral Arteriovenous Malformation Associated with Hereditary Hemorrhagic Telangiectasia]. 61
31874950 2019
39
Multimodal cerebral arteriovenous malformation treatment: a 12-year experience and comparison of key outcomes to ARUBA. 61
31675689 2019
40
Obstructive Hydrocephalus Due to Unruptured Brain Arteriovenous Malformation: Demonstrating Transcranial Color Duplex Confirmation of Cerebral Venous Hemodynamic Alterations and Color Duplex Ultrasound Confirmation of Shunt Patency. 61
31890387 2019
41
De novo distal middle cerebral artery aneurysm post-excision of intracerebral arteriovenous malformation in an 8-year old. 61
31401680 2019
42
High sensitivity and specificity of 4D-CTA in the detection of cranial arteriovenous shunts. 61
31089848 2019
43
Ratio of Arteriovenous Malformation Draining Vein to Adjacent Venous Sinus Diameter Is Associated with Increased Risk of Venous Stenosis. 61
31323417 2019
44
Large-scale ensemble simulations of biomathematical brain arteriovenous malformation models using graphics processing unit computation. 61
31494430 2019
45
Intraoperative Ultrasound Navigation with Doppler Function to Guide Arteriovenous Malformation Resection: 3-Dimensional Operative Video. 61
30839079 2019
46
Chronic encapsulated expanding hematoma after stereotactic radiosurgery of cerebral arteriovenous malformation. 61
31886150 2019
47
Combined Microsurgery and Endovascular Intervention in One-Stop for Treatment of Cerebral Arteriovenous Malformation: The Efficacy of a Hybrid Operation. 61
31018668 2019
48
Cognitive performance in patients with cerebral arteriovenous malformation 61
31465157 2019
49
Cerebral arteriovenous malformation rupture in pregnancy. 61
31340940 2019
50
Activating KRAS mutations in arteriovenous malformations of the brain: frequency and clinicopathologic correlation. 61
31026472 2019
Sources

Variations for Arteriovenous Malformations of the Brain

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ClinVar genetic disease variations for Arteriovenous Malformations of the Brain:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SARS1 NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)SNV Pathogenic 545102 rs1553178399 1:109778600-109778600 1:109235978-109235978
2 ENG NM_000118.3(ENG):c.920dup (p.Asn307fs)duplication Pathogenic 545104 rs1554810174 9:130587149-130587150 9:127824870-127824871
3 LEMD3 NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)SNV Pathogenic 545103 rs1555196298 12:65640008-65640008 12:65246228-65246228
4 PITPNM3 NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)SNV Pathogenic 545101 rs1555556099 17:6406847-6406847 17:6503527-6503527
5 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
6 KRAS NM_033360.4(KRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 12583 rs121913529 12:25398284-25398284 12:25245350-25245350
7 KRAS NM_033360.4(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
8 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu)SNV Pathogenic,drug response 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
9 BRAF NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)SNV Pathogenic 690297 7:140449173-140449173 7:140749373-140749373
10 PDCD10 NM_007217.4(PDCD10):c.474+5G>ASNV Pathogenic/Likely pathogenic 468331 rs1553759139 3:167405398-167405398 3:167687610-167687610
11 SCUBE2 NM_001170690.2(SCUBE2):c.1592G>A (p.Cys531Tyr)SNV Likely pathogenic 545106 rs1555238867 11:9055289-9055289 11:9033742-9033742
12 MAP4K4 NM_001242559.2(MAP4K4):c.1694G>A (p.Arg565Gln)SNV Likely pathogenic 545107 rs781410462 2:102476316-102476316 2:101859854-101859854
13 IL17RD NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)SNV Likely pathogenic 545109 rs577890523 3:57139956-57139956 3:57105928-57105928
14 ZFYVE16 NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)SNV Likely pathogenic 545111 rs1554047435 5:79747363-79747363 5:80451544-80451544
15 EGFR NM_005228.5(EGFR):c.1881-858G>TSNV Likely pathogenic 545112 rs909905659 7:55238010-55238010 7:55170317-55170317
16 PREX2 NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)SNV Likely pathogenic 545110 rs778089198 8:69030813-69030813 8:68118578-68118578
17 CDH2 NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)SNV Likely pathogenic 545108 rs1555630396 18:25565098-25565098 18:27985134-27985134
18 TIMP3 NM_003490.4(SYN3):c.711+7560A>GSNV Likely pathogenic 545105 rs1555985260 22:33253342-33253342 22:32857355-32857355
19 IL6 IL6, -174G-CSNV risk factor 14718
20 IL17RD NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)SNV Conflicting interpretations of pathogenicity 180145 rs200088377 3:57140161-57140161 3:57106133-57106133
21 ADGRV1 NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)SNV Uncertain significance 523543 rs1554079046 5:89971137-89971137 5:90675320-90675320
22 GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)SNV Uncertain significance 523482 rs1332140763 2:121746134-121746134 2:120988558-120988558
23 CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)SNV Uncertain significance 523531 rs772718469 16:1270816-1270816 16:1220816-1220816

Cosmic variations for Arteriovenous Malformations of the Brain:

9 (show all 27)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM89046819 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
2 COSM103034325 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 3
3 COSM103033796 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 3
4 COSM103033757 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 3
5 COSM103034000 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 3
6 COSM103034038 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 3
7 COSM102860866 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 3
8 COSM112752610 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 3
9 COSM112752563 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 3
10 COSM95502154 central nervous system,brain,other,neoplasm c.449A>G p.Y150C 22:29655652-29655652 3
11 COSM93474794 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
12 COSM112752921 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 3
13 COSM90465733 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 3
14 COSM90466087 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 3
15 COSM94463526 central nervous system,brain,other,neoplasm c.452A>G p.Y151C 22:29655652-29655652 3
16 COSM105514140 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
17 COSM90465396 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 3
18 COSM112752272 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 3
19 COSM93220513 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 3
20 COSM102656129 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
21 COSM112752230 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 3
22 COSM90465359 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 3
23 COSM92446479 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 3
24 COSM90465675 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 3
25 COSM105111282 central nervous system,brain,other,neoplasm c.447+13367A>G p.? 22:29655652-29655652 3
26 COSM89067962 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 3
27 COSM102848205 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
Sources

Expression for Arteriovenous Malformations of the Brain

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Search GEO for disease gene expression data for Arteriovenous Malformations of the Brain.
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Pathways for Arteriovenous Malformations of the Brain

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Pathways related to Arteriovenous Malformations of the Brain according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.6 TEK SOX17 RASA1 KRAS KDR IL6
2
MAPK signaling pathway 36 1
12.58 TEK RASA1 KRAS KDR FLT1 BRAF
3
Ras signaling pathway 36
Show member pathways
 12.44 TEK RASA1 KRAS KDR FLT1 BRAF
4
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.31 KRAS KDR FLT1 BRAF
5
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.18 RASA1 KRAS KDR BRAF
6
MAPK Signaling: Mitogens 64
Show member pathways
 12.04 TEK KRAS KDR FLT1 BRAF
7
G-protein signaling RAC1 in cellular process 22
Show member pathways
 11.8 TEK RASA1 KRAS KDR IL6 FLT1
8
HIF-1 signaling pathway 36
11.77 TEK IL6 FLT1
9
Rheumatoid arthritis 36
11.67 TEK IL6 FLT1
10
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.65 RASA1 KDR FLT1
11
TGF-beta Signaling Pathways 64
11.65 KRAS ENG BRAF ACVRL1
12
Angiogenesis (CST) 4
11.51 TEK KDR FLT1 ENG
13
VEGF Pathway (Tocris) 60
Show member pathways
 11.38 KRAS KDR FLT1 BRAF
14
Angiogenesis (WikiPathways) 1
10.96 TEK KDR FLT1
15
VEGF binds to VEGFR leading to receptor dimerization 65
Show member pathways
 10.75 KDR FLT1
16
Vemurafenib Pathway, Pharmacodynamics 60
10.56 KRAS KDR FLT1 BRAF
Sources

GO Terms for Arteriovenous Malformations of the Brain

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Cellular components related to Arteriovenous Malformations of the Brain according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.02 TEK KDR FLT1 ENG ACVRL1

Biological processes related to Arteriovenous Malformations of the Brain according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.22 TEK STARD13 RASA1 OR1L1 KRAS IL6
2 positive regulation of cell proliferation GO:0008284 10.01 PDCD10 KRAS KDR IL6 FLT1
3 negative regulation of apoptotic process GO:0043066 9.93 TEK RASA1 PDCD10 KDR IL6 BRAF
4 MAPK cascade GO:0000165 9.91 TEK RASA1 KRAS BRAF
5 negative regulation of gene expression GO:0010629 9.89 PDCD10 KDR ENG CDKN2B-AS1 ACVRL1
6 positive regulation of cell migration GO:0030335 9.88 PDCD10 KDR FLT1 CDKN2B-AS1
7 positive regulation of protein phosphorylation GO:0001934 9.84 TEK KRAS KDR ENG
8 peptidyl-tyrosine phosphorylation GO:0018108 9.83 TEK KDR FLT1 BRAF
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.77 PDCD10 IL6 BRAF
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 TEK KDR FLT1
11 heart development GO:0007507 9.77 TEK SOX17 SMG9 ENG ACVRL1
12 positive regulation of kinase activity GO:0033674 9.75 TEK KDR FLT1
13 positive regulation of endothelial cell proliferation GO:0001938 9.74 TEK KDR ACVRL1
14 positive regulation of MAPK cascade GO:0043410 9.73 TEK KDR IL6 FLT1
15 positive regulation of MAP kinase activity GO:0043406 9.72 PDCD10 KRAS FLT1
16 positive regulation of gene expression GO:0010628 9.7 SOX17 PDCD10 KRAS IL6 ENG CDKN2B-AS1
17 negative regulation of endothelial cell apoptotic process GO:2000352 9.69 TEK KDR BRAF
18 positive regulation of angiogenesis GO:0045766 9.65 TEK KDR FLT1 ENG ACVRL1
19 vascular endothelial growth factor signaling pathway GO:0038084 9.62 KDR FLT1
20 vasculogenesis GO:0001570 9.62 SOX17 RASA1 KDR ENG
21 blood vessel morphogenesis GO:0048514 9.58 RASA1 FLT1 ACVRL1
22 dorsal aorta morphogenesis GO:0035912 9.56 ENG ACVRL1
23 endocardial cushion to mesenchymal transition GO:0090500 9.48 ENG ACVRL1
24 sprouting angiogenesis GO:0002040 9.26 TEK KDR FLT1 ENG
25 angiogenesis GO:0001525 9.23 TEK SOX17 PDCD10 LEMD3 KDR FLT1

Molecular functions related to Arteriovenous Malformations of the Brain according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.32 TEK STARD13 SOX17 SMG9 SARS1 RBBP8
2 ATP binding GO:0005524 10.02 TEK SARS1 KDR FLT1 CNNM2 BRAF
3 protein kinase activity GO:0004672 9.83 TEK KDR FLT1 BRAF ACVRL1
4 activin binding GO:0048185 9.46 ENG ACVRL1
5 transforming growth factor beta-activated receptor activity GO:0005024 9.4 ENG ACVRL1
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 TEK KDR FLT1
7 vascular endothelial growth factor binding GO:0038085 9.32 KDR FLT1
8 vascular endothelial growth factor-activated receptor activity GO:0005021 9.26 KDR FLT1
9 growth factor binding GO:0019838 9.13 TEK KDR FLT1
10 protein tyrosine kinase activity GO:0004713 8.92 TEK KDR FLT1 BRAF
Sources

Sources for Arteriovenous Malformations of the Brain

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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