BAVM
MCID: ART141
MIFTS: 60

Arteriovenous Malformations of the Brain (BAVM)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Arteriovenous Malformations of the Brain

MalaCards integrated aliases for Arteriovenous Malformations of the Brain:

Name: Arteriovenous Malformations of the Brain 57 11 14
Cerebral Arteriovenous Malformation 11 19 58 28 5 75
Intracranial Arteriovenous Malformation 11 19 58 71
Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Susceptibility to 57 12 5
Intracranial Arteriovenous Malformations 75 43
Intracranial Hemorrhage in Brain Cerebrovascular Malformations 57
Arteriovenous Malformation of the Brain, Somatic 57
Cerebral Arteriovenous Malformations 57
Arteriovenous Malformations Cerebral 53
Intracranial Avm 19
Bavm 57

Characteristics:


Inheritance:

Somatic mutation 57

Age Of Onset:

Cerebral Arteriovenous Malformation: All ages 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060688
OMIM® 57 108010
MeSH 43 D002538
ICD10 31 Q28.2
MESH via Orphanet 44 D002538
ICD10 via Orphanet 32 Q28.2
UMLS via Orphanet 72 C0007772 C0917804
Orphanet 58 ORPHA46724
MedGen 40 C0917804
SNOMED-CT via HPO 69 234142008
UMLS 71 C0007772

Summaries for Arteriovenous Malformations of the Brain

GARD: 19 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.

MalaCards based summary: Arteriovenous Malformations of the Brain, also known as cerebral arteriovenous malformation, is related to arteriovenous malformation and hereditary hemorrhagic telangiectasia. An important gene associated with Arteriovenous Malformations of the Brain is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are PAK Pathway and Nanog in Mammalian ESC Pluripotency. The drugs Lovastatin and L 647318 have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and heart, and related phenotypes are visceral angiomatosis and peripheral arteriovenous fistula

Orphanet: 58 Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.

OMIM®: 57 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) (Updated 08-Dec-2022)

Disease Ontology: 11 A central nervous system benign neoplasm that derives from endothelial cells and that is located in the brain.

Wikipedia: 75 A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM) is an abnormal connection between the... more...

Related Diseases for Arteriovenous Malformations of the Brain

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

(show top 50) (show all 282)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 32.1 TEK PDCD10 ENG BRAF ACVRL1
2 hereditary hemorrhagic telangiectasia 31.1 TEK ENG ACVRL1
3 weber syndrome 30.8 ENG ACVRL1
4 telangiectasia, hereditary hemorrhagic, type 1 30.6 ENG ACVRL1
5 pulmonary hypertension 30.5 TEK IL6 ENG EGFR ACVRL1
6 lymphangioma 30.4 KRAS IL6 EGFR BRAF
7 klippel-trenaunay-weber syndrome 30.4 TEK PDCD10 ACVRL1
8 vascular disease 30.4 TEK PDCD10 IL6 ENG ACVRL1
9 hemangioma 30.3 TEK KRAS IL6 ENG EGFR
10 leukemia, chronic myeloid 30.3 KRAS IL6 ENG EGFR BRAF
11 cerebral cavernous malformations 30.3 PDCD10 CDH2 ACVRL1
12 cerebral angioma 30.3 TEK PDCD10
13 wyburn-mason syndrome 11.2
14 visual epilepsy 10.6
15 telangiectasis 10.5
16 varicose veins 10.4
17 hydrocephalus 10.4
18 epilepsy 10.4
19 adenosquamous lung carcinoma 10.4 KRAS EGFR
20 acneiform dermatitis 10.4 KRAS EGFR BRAF
21 chronic myelogenous leukemia, bcr-abl1 positive 10.4 KRAS BRAF
22 colon adenoma 10.4 KRAS IL6 EGFR
23 urethra transitional cell carcinoma 10.4 EGFR BRAF
24 anus disease 10.4 KRAS IL6 EGFR
25 rectal disease 10.4 KRAS IL6 EGFR
26 exanthem 10.4 KRAS IL6 EGFR
27 colorectal adenoma 10.4 KRAS IL6 EGFR
28 rheumatoid arthritis, systemic juvenile 10.4 IL6-AS1 IL6
29 limb ischemia 10.4 TEK IL6 ENG
30 mucinous lung adenocarcinoma 10.4 KRAS EGFR
31 heritable pulmonary arterial hypertension 10.4 ENG ACVRL1
32 ovarian serous cystadenocarcinoma 10.4 KRAS EGFR BRAF
33 intestinal benign neoplasm 10.4 KRAS IL6 EGFR
34 colonic benign neoplasm 10.3 KRAS IL6 EGFR BRAF
35 cardiovascular organ benign neoplasm 10.3 KRAS ENG ACVRL1
36 venous malformations, multiple cutaneous and mucosal 10.3 TEK PDCD10 ACVRL1
37 placental insufficiency 10.3 TEK IL6 ENG
38 pleomorphic carcinoma 10.3 KRAS EGFR
39 gastrointestinal system benign neoplasm 10.3 KRAS IL6 EGFR
40 pilocytic astrocytoma 10.3 TIMP3 KRAS EGFR BRAF
41 thyroid tumor 10.3 KRAS BRAF
42 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.3 ENG ACVRL1
43 lung squamous cell carcinoma 10.3 TIMP3 KRAS EGFR BRAF
44 gastrointestinal stromal tumor 10.3 TEK KRAS EGFR BRAF
45 lung carcinoma in situ 10.3 KRAS EGFR
46 melanoma, uveal 10.3 TIMP3 ENG EGFR BRAF
47 peripheral vascular disease 10.3 IL6 ENG ACVRL1
48 cholangiocarcinoma 10.3 TIMP3 KRAS IL6 EGFR BRAF
49 pancreatic adenocarcinoma 10.3 TIMP3 KRAS IL6 EGFR BRAF
50 adenocarcinoma 10.3 TIMP3 KRAS IL6 EGFR BRAF

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



Diseases related to Arteriovenous Malformations of the Brain

Symptoms & Phenotypes for Arteriovenous Malformations of the Brain

Human phenotypes related to Arteriovenous Malformations of the Brain:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visceral angiomatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100761
2 peripheral arteriovenous fistula 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100784
3 abnormal cerebral vascular morphology 30 Hallmark (90%) HP:0100659
4 abnormality of the cerebral vasculature 58 Very frequent (99-80%)
5 cerebral arteriovenous malformation 30 HP:0002408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Vascular:
cerebral arteriovenous malformation

Clinical features from OMIM®:

108010 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-1 9.26 ACVRL1
2 Increased cell migration GR00055-A-3 9.26 ACVRL1
3 Increased cell viability after pRB stimulation GR00230-A-1 8.8 EGFR MAP4K4 TEK

MGI Mouse Phenotypes related to Arteriovenous Malformations of the Brain:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.21 ACVRL1 BRAF CDH2 EGFR ENG IL17RD
2 growth/size/body region MP:0005378 10.17 ACVRL1 BRAF CDH2 EGFR ENG IL6
3 muscle MP:0005369 10.07 ACVRL1 BRAF CDH2 EGFR ENG IL6
4 renal/urinary system MP:0005367 10.01 ACVRL1 BRAF EGFR ENG IL6 KRAS
5 embryo MP:0005380 10 ACVRL1 BRAF CDH2 EGFR ENG KRAS
6 cellular MP:0005384 9.93 BRAF CDH2 EGFR IL6 KRAS LEMD3
7 pigmentation MP:0001186 9.85 BRAF EGFR KRAS SARS1 TIMP3
8 cardiovascular system MP:0005385 9.8 ACVRL1 BRAF CDH2 EGFR ENG IL17RD
9 mortality/aging MP:0010768 9.47 ACVRL1 BRAF CDH2 EGFR ENG IL6

Drugs & Therapeutics for Arteriovenous Malformations of the Brain

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
2 L 647318 Phase 2
3 Dihydromevinolin Phase 2
4 Antimetabolites Phase 2
5 Hypolipidemic Agents Phase 2
6 Anticholesteremic Agents Phase 2
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
8 Lipid Regulating Agents Phase 2
9
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
10
Tetracycline Approved, Vet_approved, Withdrawn Phase 1 60-54-8 5353990
11
Minocycline Approved, Investigational Phase 1 10118-90-8, 13614-98-7 54675783 5281021
12 Anti-Bacterial Agents Phase 1
13 Anti-Infective Agents Phase 1
14 Antiprotozoal Agents Phase 1
15 Antiparasitic Agents Phase 1
16 Antimalarials Phase 1
17
Metronidazole Approved 443-48-1, 69198-10-3 4173
18
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
19
Ethanol Approved 64-17-5 702
20
Hydrocortisone succinate Approved 2203-97-6 3643
21
Hydrocortisone acetate Approved, Vet_approved 50-03-3
22
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
23 Hydrocortisone 17-butyrate 21-propionate

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 A Nationwide Treatment Survey of Intracranial Arteriovenous Malformation: a Multicenter Retrospective and Prospective Register Study in China Unknown status NCT01803685
6 NIRS Monitoring During Intracranial Interventions Unknown status NCT03367975
7 Study of PHIL® Embolic System in the Treatment of Intracranial Dural Arteriovenous Fistulas in the Pediatric Population Unknown status NCT03731000
8 Safety and Feasibility of the Infinity Guide Catheter for Neuro Interventional Procedures Using Transradial Access Unknown status NCT04553549
9 The Efficacy of Multimodal Magnetic Resonance Imaging Techniques in Assessing the Surgical Risk for Eloquent Arteriovenous Malformations Unknown status NCT02868008
10 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Completed NCT01689402
11 Protocol for Staged Stereotactic Radiosurgery for Large Arteriovenous Malformations Completed NCT02576535
12 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Completed NCT03209804
13 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Retrospective Study Concerning the Safety for Heart and Brain Completed NCT03281395
14 Treatment of Cerebral Arteriovenous Malformations With SQUID™ Liquid Embolic Agent Completed NCT02602990
15 Evaluation of ONYX in ENDOVASCULAR Treatment of Cerebral AVMs. Prospective, Multi-center and Observational French Study Completed NCT02180958
16 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
17 Study on the Long-term Outcomes of High-level Cerebral Arteriovenous Malformation Recruiting NCT04136860
18 Differences of Long-term Neurofunctional Outcomes in Pediatric and Adult Eloquent Region Cerebral Arteriovenous Malformation Recruiting NCT04593966
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 MRI Evaluation of Nidus Occlusion After Gamma Knife Radiosurgery of Cerebral Arteriovenous Malformations - A Prospective Preliminary Study Recruiting NCT03995823
21 Comparison of Imaging Quality Between Spectral Photon Counting Computed Tomography (SPCCT) and Dual Energy Computed Tomography (DECT) Recruiting NCT04328181
22 A Prospective, Multi-center, Randomized Parallel Controlled Study on the Safety and Effectiveness of the Non-adhesive Liquid Embolic System in the Embolization of Cerebral Arteriovenous Malformations Recruiting NCT05058482
23 Biology of Cerebral Arteriovenous Malformations : Study of the Link Between Blood Biomarkers and the Haemorrhagic Prognosis of Cerebral Arteriovenous Malformations Recruiting NCT03676868
24 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870
25 Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry Recruiting NCT04150822
26 Intraoperative Laser Speckle Contrast Imaging of Cerebral Blood Flow Recruiting NCT04865718
27 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Study Concerning the Safety for Heart and Brain Recruiting NCT03184233
28 Comparison of Two Validated Endovascular Strategies for Refractory Vasospastic Stenosis After Non-traumatic Intracranial Haemorrhage Leading to Severe Brain Hypoperfusion: Chemical Versus Chemical and Mechanical Angioplasty Recruiting NCT05268445
29 Treatment of Brain AVMs (TOBAS) Study: A Randomized Controlled Trial and Registry Recruiting NCT02098252
30 Treatment of Cerebral Arteriovenous Malformations With SQUID Liquid Embolic Agent - The CHOICE Study A Non-interventional, Prospective, Single-arm, International, Multicenter Study Active, not recruiting NCT03413852
31 Impact of CErebral Endovascular PROcedures on the Systemic Immune responSe Response Not yet recruiting NCT05621850
32 PHIL Evaluation in the Endovascular Treatment of Intracranial Cerebral ArterioVenous Malformation a European Multi-center, Observational, Prospective, Single Arm and Open Label Study Terminated NCT03341039

Search NIH Clinical Center for Arteriovenous Malformations of the Brain

Cochrane evidence based reviews: intracranial arteriovenous malformations

Genetic Tests for Arteriovenous Malformations of the Brain

Genetic tests related to Arteriovenous Malformations of the Brain:

# Genetic test Affiliating Genes
1 Cerebral Arteriovenous Malformation 28 IL6 KRAS

Anatomical Context for Arteriovenous Malformations of the Brain

Organs/tissues related to Arteriovenous Malformations of the Brain:

FMA: Brain
MalaCards : Brain, Endothelial, Heart, Bone Marrow, Occipital Lobe, Cortex, Temporal Lobe

Publications for Arteriovenous Malformations of the Brain

Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 2810)
# Title Authors PMID Year
1
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. 62 57 5
29298116 2018
2
Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. 62 57 5
15331795 2004
3
Interleukin-6 involvement in brain arteriovenous malformations. 57 5
16278864 2006
4
Somatic mutations in intracranial arteriovenous malformations. 62 5
31891627 2019
5
Endothelial Notch4 signaling induces hallmarks of brain arteriovenous malformations in mice. 62 57
18667694 2008
6
Familial arteriovenous malformation of the brain. 62 57
7193302 1981
7
Familial arteriovenous malformation. 62 57
475353 1979
8
Soluble endoglin modulates aberrant cerebral vascular remodeling. 57
19670444 2009
9
Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. 5
17623760 2007
10
Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. 5
16150725 2005
11
Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes. 5
15472205 2004
12
Body mass index and C-174G interleukin-6 promoter polymorphism interact in predicting type 2 diabetes. 5
15070960 2004
13
Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females. 5
12719374 2003
14
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. 5
12519862 2003
15
The interleukin 6-174G/C polymorphism is associated with indices of obesity in men. 5
12560873 2003
16
The -597 G-->A and -174 G-->C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism. 5
11889177 2002
17
An IL6 promoter polymorphism is associated with a lifetime risk of development of Kaposi sarcoma in men infected with human immunodeficiency virus. 5
11001912 2000
18
Interleukin-6 gene polymorphism and lipid abnormalities in healthy subjects. 5
10720087 2000
19
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. 5
9769329 1998
20
Familial occurrence of arteriovenous malformation of the brain. 57
2002372 1991
21
Familial arteriovenous malformations. Report of four cases in one family. 57
3973731 1985
22
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 53 62
16470787 2006
23
Hypoxia inducible factor-1alpha and expression of vascular endothelial growth factor and its receptors in cerebral arteriovenous malformations. 53 62
16165361 2005
24
Analysis of endoglin expression in normal brain tissue and in cerebral arteriovenous malformations. 53 62
11062290 2000
25
Abnormal pattern of Tie-2 and vascular endothelial growth factor receptor expression in human cerebral arteriovenous malformations. 53 62
11014431 2000
26
Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. 53 62
10702408 2000
27
Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. 53 62
10625079 2000
28
Endothelial Rbpj deletion normalizes Notch4-induced brain arteriovenous malformation in mice. 62
36441145 2023
29
The micro-pathological characteristics in cerebral arteriovenous malformations(cAVMs). 62
36356687 2023
30
Cerebral arterio-venous malformations hemodynamics changes in hereditary hemorrhagic telangiectasia - case report. 62
35934538 2022
31
Vessel wall imaging and quantitative flow assessment in arteriovenous malformations: A feasibility study. 62
36471507 2022
32
External validation of the Ruptured Arteriovenous Malformation Grading Scale (RAGS) in a multicenter adult cohort. 62
36473981 2022
33
Natural history and treatment of deep-seated brain arteriovenous malformations in pediatric patients. 62
36087319 2022
34
Incidence and risk factors of epilepsy following brain arteriovenous malformation rupture in adult patients. 62
35867151 2022
35
Machine Learning-Enabled Determination of Diffuseness of Brain Arteriovenous Malformations from Magnetic Resonance Angiography. 62
34383209 2022
36
KRAS mutation-induced EndMT of brain arteriovenous malformation is mediated through the TGF-β/BMP-SMAD4 pathway. 62
36418055 2022
37
Treatment of high-grade brain arteriovenous malformations using a hybrid operating room: A prospective single-arm study. 62
36436434 2022
38
Unruptured brain arteriovenous malformations causing seizures localize to one common brain network. 62
36345215 2022
39
Endovascular treatment in the multimodality management of brain arteriovenous malformations: report of the Society of NeuroInterventional Surgery Standards and Guidelines Committee. 62
35414599 2022
40
The era of Onyx embolization: A systematic and literature review of preoperative embolization before stereotactic radiosurgery for the management of cerebral arteriovenous malformations. 62
36396047 2022
41
Multimodality treatment of deep-seated cerebral arteriovenous malformations: the experiences of one center. 62
36380401 2022
42
PHIL and Squid Embolization of Cerebral Arteriovenous Malformation: A Retrospective Case Series of 23 Patients. 62
36039561 2022
43
Efficacy of Utilizing Both 3-Dimensional Multimodal Fusion Image and Intra-Arterial Indocyanine Green Videoangiography in Cerebral Arteriovenous Malformation Surgery. 62
36332776 2022
44
Evaluation of the Utility of Indocyanine Green Video Angiography in Cerebral Arteriovenous Malformation Surgery. 62
36436772 2022
45
Giant intracranial arteriovenous malformation as a possibility of epileptic seizures in a case of drowning. 62
36088752 2022
46
Four-dimensional digital subtraction angiography to assess cerebral arteriovenous malformations. 62
36305629 2022
47
DNA methylation signatures on vascular differentiation genes are aberrant in vessels of human cerebral arteriovenous malformation nidus. 62
36229855 2022
48
Embolization before Gamma Knife radiosurgery for cerebral arteriovenous malformations does not negatively impact its obliteration rate: a series of 190 patients. 62
36271057 2022
49
Segmentation techniques of brain arteriovenous malformations for 3D visualization: a systematic review. 62
36255659 2022
50
Plasma Matrix Metalloproeteinase-9 Is Associated with Seizure and Angioarchitecture Changes in Brain Arteriovenous Malformations. 62
35831556 2022

Variations for Arteriovenous Malformations of the Brain

ClinVar genetic disease variations for Arteriovenous Malformations of the Brain:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITPNM3 NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) SNV Pathogenic
545101 rs1555556099 GRCh37: 17:6406847-6406847
GRCh38: 17:6503527-6503527
2 SARS1 NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) SNV Pathogenic
545102 rs1553178399 GRCh37: 1:109778600-109778600
GRCh38: 1:109235978-109235978
3 LEMD3 NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) SNV Pathogenic
545103 rs1555196298 GRCh37: 12:65640008-65640008
GRCh38: 12:65246228-65246228
4 BRAF NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) SNV Pathogenic
690297 rs1585998247 GRCh37: 7:140449173-140449173
GRCh38: 7:140749373-140749373
5 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic
12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
6 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV Pathogenic
12583 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
7 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic
12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
8 BRAF NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) SNV Pathogenic
13961 rs113488022 GRCh37: 7:140453136-140453136
GRCh38: 7:140753336-140753336
9 ENG NM_001114753.3(ENG):c.920dup (p.Asn307fs) DUP Pathogenic
545104 rs1554810174 GRCh37: 9:130587149-130587150
GRCh38: 9:127824870-127824871
10 IL6, IL6-AS1 NG_011640.1:g.4880C>G SNV Risk Factor
14718 rs1800795 GRCh37: 7:22766645-22766645
GRCh38: 7:22727026-22727026
11 EGFR NM_005228.5(EGFR):c.1881-858G>T SNV Likely Pathogenic
545112 rs909905659 GRCh37: 7:55238010-55238010
GRCh38: 7:55170317-55170317
12 MAP4K4 NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) SNV Likely Pathogenic
545107 rs781410462 GRCh37: 2:102476316-102476316
GRCh38: 2:101859854-101859854
13 PDCD10 NM_007217.4(PDCD10):c.474+5G>A SNV Likely Pathogenic
468331 rs1553759139 GRCh37: 3:167405398-167405398
GRCh38: 3:167687610-167687610
14 TIMP3, SYN3 NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) SNV Likely Pathogenic
545105 rs1555985260 GRCh37: 22:33253342-33253342
GRCh38: 22:32857355-32857355
15 SCUBE2 NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) SNV Likely Pathogenic
545106 rs1555238867 GRCh37: 11:9055289-9055289
GRCh38: 11:9033742-9033742
16 CDH2 NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) SNV Likely Pathogenic
545108 rs1555630396 GRCh37: 18:25565098-25565098
GRCh38: 18:27985134-27985134
17 IL17RD NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) SNV Likely Pathogenic
545109 rs577890523 GRCh37: 3:57139956-57139956
GRCh38: 3:57105928-57105928
18 PREX2 NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) SNV Likely Pathogenic
545110 rs778089198 GRCh37: 8:69030813-69030813
GRCh38: 8:68118578-68118578
19 ZFYVE16 NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) SNV Likely Pathogenic
545111 rs1554047435 GRCh37: 5:79747363-79747363
GRCh38: 5:80451544-80451544
20 IL17RD NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) SNV Uncertain Significance
180145 rs200088377 GRCh37: 3:57140161-57140161
GRCh38: 3:57106133-57106133
21 KRAS NM_033360.4(KRAS):c.249C>T (p.Ala83=) SNV Uncertain Significance
40456 rs751117590 GRCh37: 12:25380209-25380209
GRCh38: 12:25227275-25227275
22 GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) SNV Uncertain Significance
523482 rs1332140763 GRCh37: 2:121746134-121746134
GRCh38: 2:120988558-120988558
23 ADGRV1 NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) SNV Uncertain Significance
523543 rs1554079046 GRCh37: 5:89971137-89971137
GRCh38: 5:90675320-90675320
24 CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) SNV Uncertain Significance
523531 rs772718469 GRCh37: 16:1270816-1270816
GRCh38: 16:1220816-1220816

Cosmic variations for Arteriovenous Malformations of the Brain:

8 (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 COSM102656129 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 11
2 COSM89046819 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 11
3 COSM105514140 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 11
4 COSM102848205 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 11
5 COSM93474794 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 11
6 COSM89067962 NF2 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 11
7 COSM105111282 NF2 central nervous system,brain,other,neoplasm c.447+13367A>G p.? 22:29655652-29655652 11
8 COSM95502154 NF2 central nervous system,brain,other,neoplasm c.449A>G p.Y150C 22:29655652-29655652 11
9 COSM92446479 NF2 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 11
10 COSM94463526 NF2 central nervous system,brain,other,neoplasm c.452A>G p.Y151C 22:29655652-29655652 11
11 COSM90465359 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 11
12 COSM112752230 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 11
13 COSM103033757 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 11
14 COSM103034325 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 11
15 COSM112752272 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 11
16 COSM90465396 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 11
17 COSM90466087 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 11
18 COSM90465733 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 11
19 COSM112752610 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 11
20 COSM112752921 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 11
21 COSM112752563 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 11
22 COSM90465675 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 11
23 COSM103034000 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 11
24 COSM103033796 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 11
25 COSM103034038 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 11
26 COSM102860866 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 11
27 COSM93220513 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 11

Expression for Arteriovenous Malformations of the Brain

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

Pathways for Arteriovenous Malformations of the Brain

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 TIMP3 TEK KRAS IL6 EGFR CDH2
2
Show member pathways
13.07 BRAF CDH2 EGFR IL6 KRAS TEK
3 12.78 ZFYVE16 TEK SCUBE2 PREX2 LEMD3 KRAS
4
Show member pathways
12.43 TEK KRAS IL6 EGFR
5 12.23 MAP4K4 KRAS EGFR BRAF
6 11.98 KRAS IL6 EGFR BRAF
7
Show member pathways
11.92 TIMP3 TEK KRAS IL6 EGFR BRAF
8
Show member pathways
11.9 TEK KRAS IL17RD EGFR BRAF
9 11.82 MAP4K4 KRAS BRAF
10 11.74 PITPNM3 IL6 CDH2
11 11.73 IL6 ENG CDH2
12 11.69 TIMP3 TEK ENG
13 11.46 TIMP3 KRAS IL6 EGFR BRAF
14 11.4 TEK IL6 EGFR
15 11.24 KRAS EGFR BRAF
16 11.24 KRAS ENG BRAF ACVRL1
17 11.18 KRAS EGFR BRAF
18 10.86 TIMP3 TEK IL6 EGFR CDH2
19 10.86 BRAF EGFR KRAS
20 10.55 BRAF EGFR
21 10.43 TEK BRAF

GO Terms for Arteriovenous Malformations of the Brain

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

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.4 TEK MAP4K4 KRAS ENG EGFR CDH2

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.15 TEK PDCD10 MAP4K4 IL6 EGFR BRAF
2 MAPK cascade GO:0000165 9.86 BRAF EGFR KRAS MAP4K4
3 positive regulation of protein phosphorylation GO:0001934 9.81 KRAS ENG EGFR BRAF TEK
4 dorsal aorta morphogenesis GO:0035912 9.71 ENG ACVRL1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.56 PDCD10 IL6 EGFR BRAF
6 positive regulation of miRNA maturation GO:1903800 9.32 EGFR IL6
7 endocardial cushion to mesenchymal transition GO:0090500 8.62 ENG ACVRL1

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor activity GO:0005024 9.26 ENG ACVRL1
2 nucleotide binding GO:0000166 9.23 TEK SYN3 SARS1 MAP4K4 KRAS EGFR

Sources for Arteriovenous Malformations of the Brain

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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