BAVM
MCID: ART141
MIFTS: 61

Arteriovenous Malformations of the Brain (BAVM)

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

Aliases & Classifications for Arteriovenous Malformations of the Brain

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:

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

Summaries for Arteriovenous Malformations of the Brain

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 Minocycline and Tetracycline 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...

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 262)
# 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 pulmonary arteriovenous malformation 31.1 ENG ACVRL1
4 pulmonary hypertension 30.7 TEK KDR IL6 ENG ACVRL1
5 intracranial aneurysm 30.6 STARD13 SOX17 RBBP8 ENG CNNM2 CDKN2B-AS1
6 weber syndrome 30.6 RASA1 ENG ACVRL1
7 angiosarcoma 30.5 TEK KRAS KDR FLT1
8 hemangioma 30.2 TEK PDCD10 KRAS KDR FLT1 ENG
9 capillary malformation-arteriovenous malformation 1 11.3
10 wyburn-mason syndrome 11.3
11 selection of therapeutic option in colorectal cancer 10.6 KRAS BRAF
12 septate uterus 10.6 KDR FLT1
13 urachal adenocarcinoma 10.6 KRAS BRAF
14 hyperplastic polyposis syndrome 10.6 KRAS BRAF
15 apocrine adenoma 10.6 KRAS BRAF
16 visual epilepsy 10.6
17 heritable pulmonary arterial hypertension 10.6 SOX17 ENG ACVRL1
18 cerebral arterial disease 10.6 SOX17 IL6 CDKN2B-AS1
19 angiokeratoma of mibelli 10.6 KDR FLT1
20 glomeruloid hemangioma 10.5 IL6 FLT1 ENG
21 colonic benign neoplasm 10.5 KRAS IL6 BRAF
22 syringocystadenoma papilliferum 10.5 KRAS BRAF
23 background diabetic retinopathy 10.5 TEK KDR IL6
24 pyogenic granuloma 10.5 TEK KRAS
25 blood group, globoside system 10.5 KDR IL6 FLT1
26 macular retinal edema 10.5 KDR IL6 FLT1
27 exanthem 10.5 KRAS KDR IL6
28 retinal vascular occlusion 10.5 KDR IL6 FLT1
29 hereditary hemorrhagic telangiectasia 10.5
30 rosacea 10.5 KDR IL6 FLT1
31 retinal artery occlusion 10.5 KDR IL6 FLT1
32 neurofibromatosis, type iv, of riccardi 10.5 RASA1 KRAS CDKN2B-AS1
33 klippel-trenaunay-weber syndrome 10.5 TEK RASA1 PDCD10
34 kuhnt-junius degeneration 10.5 TEK KDR FLT1
35 hydrocephalus 10.5
36 diabetic macular edema 10.5 TEK IL6 FLT1
37 peripheral artery disease 10.5 IL6 ENG CDKN2B-AS1
38 venous malformations, multiple cutaneous and mucosal 10.5 TEK PDCD10
39 placenta accreta 10.5 TEK KDR FLT1
40 cardiofaciocutaneous syndrome 1 10.4 RASA1 KRAS BRAF
41 vascular cancer 10.4 KDR FLT1 ENG
42 corneal neovascularization 10.4 TEK KDR FLT1
43 suppression of tumorigenicity 12 10.4 KRAS KDR IL6 BRAF
44 limb ischemia 10.4 TEK KDR IL6
45 intussusception 10.4 TEK KDR IL6 FLT1
46 placental insufficiency 10.4 TEK KDR IL6 FLT1
47 retinal vascular disease 10.4 TEK KDR IL6 FLT1
48 stork bite 10.4 TEK RASA1
49 exudative vitreoretinopathy 1 10.4 TEK KDR IL6 FLT1
50 breast carcinoma in situ 10.4 KDR IL6 FLT1

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 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 cell migration GR00055-A-1 9.65 ACVRL1 BRAF FLT1 KDR KRAS
2 Decreased substrate adherent cell growth GR00193-A-1 9.55 ACVRL1
3 Decreased substrate adherent cell growth GR00193-A-3 9.55 BRAF
4 Decreased substrate adherent cell growth GR00193-A-4 9.55 ACVRL1 BRAF KDR
5 Increased cell migration GR00055-A-3 9.26 ACVRL1 BRAF KDR KRAS
6 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.8 ACVRL1 FLT1 TEK

MGI Mouse Phenotypes related to Arteriovenous Malformations of the Brain:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 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 10.3 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 10.11 ACVRL1 BRAF CNNM2 ENG KDR KRAS
9 muscle MP:0005369 10.1 ACVRL1 BRAF ENG FLT1 IL6 KDR
10 nervous system MP:0003631 10 ACVRL1 BRAF ENG FLT1 IL6 KDR
11 liver/biliary system MP:0005370 9.95 ACVRL1 BRAF IL6 KDR KRAS SMG9
12 normal MP:0002873 9.81 ACVRL1 BRAF ENG FLT1 KDR KRAS
13 respiratory system MP:0005388 9.5 ACVRL1 BRAF ENG IL6 KDR KRAS
14 vision/eye MP:0005391 9.28 BRAF FLT1 IL6 KDR KRAS PDCD10

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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 1 10118-90-8 5281021
2
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
3
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
4
Bevacizumab Approved, Investigational Phase 1 216974-75-3
5 Anti-Infective Agents Phase 1
6 Antiparasitic Agents Phase 1
7 Antiprotozoal Agents Phase 1
8 Antimalarials Phase 1
9 Anti-Bacterial Agents Phase 1
10 Antineoplastic Agents, Immunological Phase 1
11 Angiogenesis Inhibitors Phase 1
12
Ethanol Approved 64-17-5 702
13
Heparin Approved, Investigational 9005-49-6 772 46507594
14
Calcium Approved, Nutraceutical 7440-70-2 271
15 Fibrinolytic Agents
16 Anticoagulants
17 Calcium, Dietary
18 calcium heparin

Interventional clinical trials:

(show all 29)
# 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 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
4 Bevacizumab Therapy for Brain Arteriovenous Malformation Recruiting NCT02314377 Phase 1 Bevacizumab
5 A Nationwide Treatment Survey of Intracranial Arteriovenous Malformation: a Multicenter Retrospective and Prospective Register Study in China Unknown status NCT01803685
6 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Unknown status NCT03209804
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 SQUID™ Liquid Embolic Agent Completed NCT02602990
12 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
13 Protocol for Staged Stereotactic Radiosurgery for Large Arteriovenous Malformations Completed NCT02576535
14 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Retrospective Study Concerning the Safety for Heart and Brain Completed NCT03281395
15 Treatment of Cerebral Arteriovenous Malformations With SQUID Liquid Embolic Agent - The CHOICE Study A Non-interventional, Prospective, Single-arm, International, Multicenter Study Recruiting NCT03413852
16 Biology of Cerebral Arteriovenous Malformations : Study of the Link Between Blood Biomarkers and the Haemorrhagic Prognosis of Cerebral Arteriovenous Malformations Recruiting NCT03676868
17 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations (TATAM): A Randomized Controlled Trial and Registry Recruiting NCT03691870
18 Study on the Long-term Outcomes of High-level Cerebral Arteriovenous Malformation Recruiting NCT04136860
19 MRI Evaluation of Nidus Occlusion After Gamma Knife Radiosurgery of Cerebral Arteriovenous Malformations - A Prospective Preliminary Study Recruiting NCT03995823
20 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10) Recruiting NCT01158807
21 Study of PHIL® Embolic System in the Treatment of Intracranial Dural Arteriovenous Fistulas in the Pediatric Population Recruiting NCT03731000
22 Treatment of Brain AVMs (TOBAS) Study: A Randomized Controlled Trial and Registry Recruiting NCT02098252
23 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
24 Multi-center, Single-blind, Prospective Cohort Study of Exploration of Anticoagulation Program in Cerebral Aneurysm and Arteriovenous Malformations With Hybrid Operation Recruiting NCT03306823
25 Transcatheter Leak Closure With Detachable Coils Following Incomplete Left Atrial Appendage Closure Procedures Recruiting NCT03503253
26 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556
27 Rapid Ventricular Pacing During Cerebral Aneurysm Surgery: a Study Concerning the Safety for Heart and Brain Recruiting NCT03184233
28 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
29 Assessment of ONYX in Endovascular Cerebral AVM. Prospective, Multi-centre and Observational French Study. Active, not recruiting NCT02180958

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 29 IL6 KRAS

Anatomical Context for Arteriovenous Malformations of the Brain

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, Kidney, T Cells, Testes, Cortex

Publications for Arteriovenous Malformations of the Brain

Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 895)
# Title Authors PMID Year
1
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. 61 56 6
29298116 2018
2
Interleukin-6 involvement in brain arteriovenous malformations. 56 6
16278864 2006
3
Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. 56 6
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
The interleukin 6-174G/C polymorphism is associated with indices of obesity in men. 6
12560873 2003
13
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
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. 54 61
10702408 2000
22
Microsurgery for Unruptured Cerebral Arteriovenous Malformations in the National Inpatient Sample Is More Common Post-ARUBA. 61
32032786 2020
23
[Coarctation of aorta in a neonate? It is not always what it seems: an illustrative case]. 61
31984714 2020
24
Overview of the current concepts in the management of arteriovenous malformations of the brain. 61
32015188 2020
25
Arterial-spin labeling MRI identifies residual cerebral arteriovenous malformation following stereotactic radiosurgery treatment. 61
30658138 2020
26
Silent MRA: arterial spin labeling magnetic resonant angiography with ultra-short time echo assessing cerebral arteriovenous malformation. 61
31898767 2020
27
[A Case of Ruptured Cerebral Arteriovenous Malformation Associated with Hereditary Hemorrhagic Telangiectasia]. 61
31874950 2019
28
Multimodal cerebral arteriovenous malformation treatment: a 12-year experience and comparison of key outcomes to ARUBA. 61
31675689 2019
29
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
30
De novo distal middle cerebral artery aneurysm post-excision of intracerebral arteriovenous malformation in an 8-year old. 61
31401680 2019
31
High sensitivity and specificity of 4D-CTA in the detection of cranial arteriovenous shunts. 61
31089848 2019
32
Ratio of Arteriovenous Malformation Draining Vein to Adjacent Venous Sinus Diameter Is Associated with Increased Risk of Venous Stenosis. 61
31323417 2019
33
Intraoperative Ultrasound Navigation with Doppler Function to Guide Arteriovenous Malformation Resection: 3-Dimensional Operative Video. 61
30839079 2019
34
Large-scale ensemble simulations of biomathematical brain arteriovenous malformation models using graphics processing unit computation. 61
31494430 2019
35
Chronic encapsulated expanding hematoma after stereotactic radiosurgery of cerebral arteriovenous malformation. 61
31886150 2019
36
Combined Microsurgery and Endovascular Intervention in One-Stop for Treatment of Cerebral Arteriovenous Malformation: The Efficacy of a Hybrid Operation. 61
31018668 2019
37
Cognitive performance in patients with cerebral arteriovenous malformation 61
31465157 2019
38
Cerebral arteriovenous malformation rupture in pregnancy. 61
31340940 2019
39
Activating KRAS mutations in arteriovenous malformations of the brain: frequency and clinicopathologic correlation. 61
31026472 2019
40
Migration of lipiodol into lateral ventricles after embolization of cerebral arteriovenous malformation: a case report. 61
31364414 2019
41
A cerebral arteriovenous malformation mistakenly diagnosed as dry eye and glaucoma: a case report. 61
31299930 2019
42
Improvement of Writer's Cramp from an Old Lesion in the Contralateral Hemisphere with Transient Gait Disturbance After Thalamotomy. 61
30928593 2019
43
Elevated endothelial Sox2 causes lumen disruption and cerebral arteriovenous malformations. 61
31232700 2019
44
Management Options and Outcome of Cerebral Arteriovenous Malformation in Pregnancy: Case Series. 61
31356101 2019
45
De Novo Development of a Cerebral Arteriovenous Malformation: Case Report and Review of the Literature. 61
30885864 2019
46
Hydrocephalus due to a Cavernoma-Like Lesion of an Obliterated Cerebral Arteriovenous Malformation Treated by Embolization and Radiosurgery. 61
30885872 2019
47
CEREBRAL ARTERIOVENOUS MALFORMATION WITH PARANIDAL ANEURYSMS. CLINICAL COURSE AND OUTCOME AFTER ENDOVASCULAR EMBOLIZATION. 61
31322512 2019
48
Tumefactive cyst after stereotactic radiosurgery for cerebral arteriovenous malformation. 61
31347593 2019
49
Cerebral arteriotomy to retrieve an entrapped microcatheter after a partial cerebral arteriovenous malformation embolization. 61
31085874 2019
50
Synchronous cerebral arteriovenous malformation and lung adenocarcinoma carcinoma brain metastases: A case study and literature review. 61
30638546 2019

Variations for Arteriovenous Malformations of the Brain

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 ENG NM_000118.3(ENG):c.920dup (p.Asn307fs)duplication Pathogenic 545104 rs1554810174 9:130587149-130587150 9:127824870-127824871
2 LEMD3 NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)SNV Pathogenic 545103 rs1555196298 12:65640008-65640008 12:65246228-65246228
3 PITPNM3 NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)SNV Pathogenic 545101 rs1555556099 17:6406847-6406847 17:6503527-6503527
4 BRAF NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)SNV Pathogenic 690297 7:140449173-140449173 7:140749373-140749373
5 BRAF NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)SNV Pathogenic 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
6 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
7 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 12583 rs121913529 12:25398284-25398284 12:25245350-25245350
8 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
9 SARS1 NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)SNV Pathogenic 545102 rs1553178399 1:109778600-109778600 1:109235978-109235978
10 PDCD10 NM_007217.4(PDCD10):c.474+5G>ASNV Pathogenic/Likely pathogenic 468331 rs1553759139 3:167405398-167405398 3:167687610-167687610
11 IL6 IL6, -174G-CSNV risk factor 14718
12 CDH2 NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)SNV Likely pathogenic 545108 rs1555630396 18:25565098-25565098 18:27985134-27985134
13 TIMP3 NM_003490.4(SYN3):c.711+7560A>GSNV Likely pathogenic 545105 rs1555985260 22:33253342-33253342 22:32857355-32857355
14 SCUBE2 NM_001170690.2(SCUBE2):c.1592G>A (p.Cys531Tyr)SNV Likely pathogenic 545106 rs1555238867 11:9055289-9055289 11:9033742-9033742
15 MAP4K4 NM_001242559.2(MAP4K4):c.1694G>A (p.Arg565Gln)SNV Likely pathogenic 545107 rs781410462 2:102476316-102476316 2:101859854-101859854
16 IL17RD NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)SNV Likely pathogenic 545109 rs577890523 3:57139956-57139956 3:57105928-57105928
17 ZFYVE16 NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)SNV Likely pathogenic 545111 rs1554047435 5:79747363-79747363 5:80451544-80451544
18 EGFR NM_005228.5(EGFR):c.1881-858G>TSNV Likely pathogenic 545112 rs909905659 7:55238010-55238010 7:55170317-55170317
19 PREX2 NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)SNV Likely pathogenic 545110 rs778089198 8:69030813-69030813 8:68118578-68118578
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 CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)SNV Uncertain significance 523531 rs772718469 16:1270816-1270816 16:1220816-1220816
23 GLI2 NM_005270.4(GLI2):c.2644A>T (p.Thr882Ser)SNV Uncertain significance 523482 rs1332140763 2:121746134-121746134 2:120988558-120988558

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

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 TEK SOX17 RASA1 KRAS KDR IL6
2 12.58 TEK RASA1 KRAS KDR FLT1 BRAF
3
Show member pathways
12.44 TEK RASA1 KRAS KDR FLT1 BRAF
4
Show member pathways
12.3 KRAS KDR FLT1 BRAF
5
Show member pathways
12.17 RASA1 KRAS KDR BRAF
6
Show member pathways
12.04 TEK KRAS KDR FLT1 BRAF
7
Show member pathways
11.8 TEK RASA1 KRAS KDR IL6 FLT1
8 11.77 TEK IL6 FLT1
9 11.67 TEK IL6 FLT1
10
Show member pathways
11.65 RASA1 KDR FLT1
11 11.65 KRAS ENG BRAF ACVRL1
12 11.51 TEK KDR FLT1 ENG
13
Show member pathways
11.38 KRAS KDR FLT1 BRAF
14 10.96 TEK KDR FLT1
15
Show member pathways
10.75 KDR FLT1
16 10.56 KRAS KDR FLT1 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 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 23)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.21 TEK STARD13 RASA1 OR1L1 KRAS IL6
2 positive regulation of cell proliferation GO:0008284 10 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 9.88 TEK RASA1 KRAS BRAF
5 heart development GO:0007507 9.87 TEK SMG9 ENG ACVRL1
6 positive regulation of cell migration GO:0030335 9.86 PDCD10 KDR FLT1 CDKN2B-AS1
7 positive regulation of protein phosphorylation GO:0001934 9.81 TEK KRAS KDR ENG
8 peptidyl-tyrosine phosphorylation GO:0018108 9.8 TEK KDR FLT1 BRAF
9 negative regulation of gene expression GO:0010629 9.8 PDCD10 KDR ENG CDKN2B-AS1 ACVRL1
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 TEK KDR FLT1
11 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.76 PDCD10 IL6 BRAF
12 positive regulation of endothelial cell proliferation GO:0001938 9.72 TEK KDR ACVRL1
13 positive regulation of MAP kinase activity GO:0043406 9.7 PDCD10 KRAS FLT1
14 positive regulation of gene expression GO:0010628 9.7 SOX17 PDCD10 KRAS IL6 ENG CDKN2B-AS1
15 negative regulation of endothelial cell apoptotic process GO:2000352 9.65 TEK KDR BRAF
16 positive regulation of angiogenesis GO:0045766 9.65 TEK KDR FLT1 ENG ACVRL1
17 vasculogenesis GO:0001570 9.62 SOX17 RASA1 KDR ENG
18 vascular endothelial growth factor signaling pathway GO:0038084 9.61 KDR FLT1
19 dorsal aorta morphogenesis GO:0035912 9.54 ENG ACVRL1
20 blood vessel morphogenesis GO:0048514 9.54 RASA1 FLT1 ACVRL1
21 endocardial cushion to mesenchymal transition GO:0090500 9.43 ENG ACVRL1
22 sprouting angiogenesis GO:0002040 9.26 TEK KDR FLT1 ENG
23 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 10.36 TEK STARD13 SOX17 SMG9 SARS1 RBBP8
2 protein kinase activity GO:0004672 9.77 TEK KDR FLT1 BRAF ACVRL1
3 activin binding GO:0048185 9.4 ENG ACVRL1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 TEK KDR FLT1
5 vascular endothelial growth factor binding GO:0038085 9.32 KDR FLT1
6 vascular endothelial growth factor-activated receptor activity GO:0005021 9.26 KDR FLT1
7 growth factor binding GO:0019838 9.13 TEK KDR FLT1
8 protein tyrosine kinase activity GO:0004713 8.92 TEK KDR FLT1 BRAF

Sources for Arteriovenous Malformations of the Brain

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
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