BAVM
MCID: ART141
MIFTS: 60

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:
autosomal dominant


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 MAPK signaling pathway and Ras signaling pathway. The drugs Minocycline and Doxycycline 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.

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

More information from OMIM: 108010

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 252)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 32.4 TEK PDCD10 KDR FLT1 ENG
2 arteriovenous malformation 31.7 TEK RASA1 PDCD10 KRAS IL6 ENG
3 pulmonary hypertension 30.6 TEK KDR IL6 ENG ACVRL1
4 weber syndrome 30.5 RASA1 ENG ACVRL1
5 intracranial aneurysm 30.5 STARD13 SOX17 RBBP8 ENG CNNM2 CDKN2B-AS1
6 angiosarcoma 30.4 TEK KRAS KDR FLT1
7 hemangioma 30.1 TEK PDCD10 KRAS KDR FLT1 ENG
8 capillary malformation-arteriovenous malformation 1 11.3
9 wyburn-mason syndrome 11.3
10 visual epilepsy 10.6
11 septate uterus 10.6 KDR FLT1
12 pulmonary arteriovenous malformation 10.6 ENG ACVRL1
13 neurofibromatosis, type i 10.5 RASA1 CDKN2B-AS1
14 heritable pulmonary arterial hypertension 10.5 SOX17 ENG ACVRL1
15 angiokeratoma of mibelli 10.5 KDR FLT1
16 cerebral arterial disease 10.5 SOX17 IL6 CDKN2B-AS1
17 glomeruloid hemangioma 10.5 IL6 FLT1 ENG
18 pyogenic granuloma 10.5 TEK KRAS
19 background diabetic retinopathy 10.5 TEK KDR IL6
20 hydrocephalus 10.5
21 hereditary hemorrhagic telangiectasia 10.5
22 exanthem 10.5 KRAS KDR IL6
23 blood group, globoside system 10.5 KDR IL6 FLT1
24 macular retinal edema 10.5 KDR IL6 FLT1
25 retinal vascular occlusion 10.5 KDR IL6 FLT1
26 venous malformations, multiple cutaneous and mucosal 10.5 TEK PDCD10
27 rosacea 10.4 KDR IL6 FLT1
28 peripheral artery disease 10.4 IL6 ENG CDKN2B-AS1
29 retinal artery occlusion 10.4 KDR IL6 FLT1
30 neurofibromatosis, type iv, of riccardi 10.4 RASA1 KRAS CDKN2B-AS1
31 kuhnt-junius degeneration 10.4 TEK KDR FLT1
32 klippel-trenaunay-weber syndrome 10.4 TEK RASA1 PDCD10
33 diabetic macular edema 10.4 TEK IL6 FLT1
34 placenta accreta 10.4 TEK KDR FLT1
35 stork bite 10.4 TEK RASA1
36 vascular cancer 10.4 KDR FLT1 ENG
37 epithelioid hemangioendothelioma 10.4 KDR FLT1
38 limb ischemia 10.4 TEK KDR IL6
39 corneal neovascularization 10.4 TEK KDR FLT1
40 breast carcinoma in situ 10.4 KDR IL6 FLT1
41 intussusception 10.4 TEK KDR IL6 FLT1
42 placental insufficiency 10.4 TEK KDR IL6 FLT1
43 primary cutaneous b-cell lymphoma 10.4 KDR FLT1
44 retinal vascular disease 10.4 TEK KDR IL6 FLT1
45 exudative vitreoretinopathy 1 10.4 TEK KDR IL6 FLT1
46 thrombosis 10.3
47 angiokeratoma circumscriptum 10.3 TEK RASA1 KDR FLT1
48 capillary disease 10.3 TEK RASA1 KDR FLT1
49 capillary hemangioma 10.3 TEK RASA1 KDR FLT1
50 peripheral vascular disease 10.3 IL6 ENG ACVRL1

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
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 viability GR00221-A-1 9.86 ACVRL1 KDR
2 Decreased viability GR00221-A-2 9.86 ACVRL1 KDR
3 Decreased viability GR00221-A-3 9.86 ACVRL1 KDR RASA1 TEK
4 Decreased viability GR00221-A-4 9.86 ACVRL1 KDR RASA1
5 Decreased viability GR00381-A-1 9.86 RASA1
6 Decreased viability GR00402-S-2 9.86 ACVRL1 KDR RASA1 TEK
7 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
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 ACVRL1 CNNM2 ENG FLT1 IL6 KDR
2 embryo MP:0005380 10.25 ACVRL1 CNNM2 ENG FLT1 KDR KRAS
3 cellular MP:0005384 10.23 ARHGAP32 FLT1 IL6 KDR KRAS LEMD3
4 mortality/aging MP:0010768 10.22 ACVRL1 CNNM2 ENG FLT1 IL6 KDR
5 growth/size/body region MP:0005378 10.18 ACVRL1 CNNM2 ENG FLT1 IL6 KDR
6 muscle MP:0005369 10 ACVRL1 ENG FLT1 IL6 KDR KRAS
7 craniofacial MP:0005382 9.98 ACVRL1 CNNM2 ENG KDR KRAS RASA1
8 nervous system MP:0003631 9.9 ACVRL1 ARHGAP32 ENG FLT1 IL6 KDR
9 normal MP:0002873 9.56 ACVRL1 ENG FLT1 KDR KRAS PDCD10
10 vision/eye MP:0005391 9.23 FLT1 IL6 KDR KRAS PDCD10 RASA1

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
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
3
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
4
Bevacizumab Approved, Investigational Phase 1 216974-75-3
5 Anti-Infective Agents Phase 1
6 Antimalarials Phase 1
7 Anti-Bacterial Agents Phase 1
8 Antiparasitic Agents Phase 1
9 Antiprotozoal Agents Phase 1
10 Angiogenesis Inhibitors Phase 1
11 Antineoplastic Agents, Immunological 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 Transcatheter Leak Closure With Detachable Coils Following Incomplete Left Atrial Appendage Closure Procedures Recruiting NCT03503253
24 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
25 Multi-center, Single-blind, Prospective Cohort Study of Exploration of Anticoagulation Program in Cerebral Aneurysm and Arteriovenous Malformations With Hybrid Operation Recruiting NCT03306823
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, T Cells, Testes, Cortex, Bone

Publications for Arteriovenous Malformations of the Brain

Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 888)
# Title Authors PMID Year
1
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. 61 6 56
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. 56 6
15331795 2004
4
Familial arteriovenous malformation of the brain. 56 61
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
De novo distal middle cerebral artery aneurysm post-excision of intracerebral arteriovenous malformation in an 8-year old. 61
31401680 2019
23
High sensitivity and specificity of 4D-CTA in the detection of cranial arteriovenous shunts. 61
31089848 2019
24
Multimodal cerebral arteriovenous malformation treatment: a 12-year experience and comparison of key outcomes to ARUBA. 61
31675689 2019
25
Ratio of Arteriovenous Malformation Draining Vein to Adjacent Venous Sinus Diameter Is Associated with Increased Risk of Venous Stenosis. 61
31323417 2019
26
Large-scale ensemble simulations of biomathematical brain arteriovenous malformation models using graphics processing unit computation. 61
31494430 2019
27
Intraoperative Ultrasound Navigation with Doppler Function to Guide Arteriovenous Malformation Resection: 3-Dimensional Operative Video. 61
30839079 2019
28
Combined Microsurgery and Endovascular Intervention in One-Stop for Treatment of Cerebral Arteriovenous Malformation: The Efficacy of a Hybrid Operation. 61
31018668 2019
29
Cognitive performance in patients with cerebral arteriovenous malformation 61
31465157 2019
30
Cerebral arteriovenous malformation rupture in pregnancy. 61
31340940 2019
31
Activating KRAS mutations in arteriovenous malformations of the brain: frequency and clinicopathologic correlation. 61
31026472 2019
32
Migration of lipiodol into lateral ventricles after embolization of cerebral arteriovenous malformation: a case report. 61
31364414 2019
33
A cerebral arteriovenous malformation mistakenly diagnosed as dry eye and glaucoma: a case report. 61
31299930 2019
34
Improvement of Writer's Cramp from an Old Lesion in the Contralateral Hemisphere with Transient Gait Disturbance After Thalamotomy. 61
30928593 2019
35
Elevated endothelial Sox2 causes lumen disruption and cerebral arteriovenous malformations. 61
31232700 2019
36
Management Options and Outcome of Cerebral Arteriovenous Malformation in Pregnancy: Case Series. 61
31356101 2019
37
De Novo Development of a Cerebral Arteriovenous Malformation: Case Report and Review of the Literature. 61
30885864 2019
38
Hydrocephalus due to a Cavernoma-Like Lesion of an Obliterated Cerebral Arteriovenous Malformation Treated by Embolization and Radiosurgery. 61
30885872 2019
39
CEREBRAL ARTERIOVENOUS MALFORMATION WITH PARANIDAL ANEURYSMS. CLINICAL COURSE AND OUTCOME AFTER ENDOVASCULAR EMBOLIZATION. 61
31322512 2019
40
Tumefactive cyst after stereotactic radiosurgery for cerebral arteriovenous malformation. 61
31347593 2019
41
Cerebral arteriotomy to retrieve an entrapped microcatheter after a partial cerebral arteriovenous malformation embolization. 61
31085874 2019
42
Synchronous cerebral arteriovenous malformation and lung adenocarcinoma carcinoma brain metastases: A case study and literature review. 61
30638546 2019
43
Surgery for Intractable Seizures After Successful Radiosurgery of Cerebral Arteriovenous Malformation. 61
30716879 2019
44
In Reply to "Surgery for Intractable Seizures After Successful Radiosurgery of Cerebral Arteriovenous Malformation". 61
30481623 2019
45
Cerebral arteriovenous malformation venous stenosis is associated with hemodynamic changes at the draining vein-venous sinus junction. 61
30696602 2019
46
Usefulness of High-Resolution Three-Dimensional Multifusion Medical Imaging for Preoperative Planning in Patients with Cerebral Arteriovenous Malformation. 61
30677580 2019
47
Ruptured cerebral arteriovenous malformation during fifth pregnancy: A case report and literature review. 61
30611953 2019
48
Arterial-spin labeling MRI identifies residual cerebral arteriovenous malformation following stereotactic radiosurgery treatment. 61
30658138 2019
49
Postoperative 'STEMI' in Intracerebral Hemorrhage due to Arteriovenous Malformation: A Case Report and Review of Literature. 61
31231576 2019
50
Fully automated tissue segmentation of the prescription isodose region delineated through the Gamma knife plan for cerebral arteriovenous malformation (AVM) using fuzzy C-means (FCM) clustering. 61
30497981 2019

Variations for Arteriovenous Malformations of the Brain

ClinVar genetic disease variations for Arteriovenous Malformations of the Brain:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
2 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 12583 rs121913529 12:25398284-25398284 12:25245350-25245350
3 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val)SNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
4 PITPNM3 NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)SNV Pathogenic 545101 rs1555556099 17:6406847-6406847 17:6503527-6503527
5 LEMD3 NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)SNV Pathogenic 545103 rs1555196298 12:65640008-65640008 12:65246228-65246228
6 ENG NM_000118.3(ENG):c.920dup (p.Asn307fs)duplication Pathogenic 545104 rs1554810174 9:130587150-130587150 9:127824871-127824871
7 SARS1 NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)SNV Pathogenic 545102 rs1553178399 1:109778600-109778600 1:109235978-109235978
8 PDCD10 NM_007217.4(PDCD10):c.474+5G>ASNV Pathogenic/Likely pathogenic 468331 rs1553759139 3:167405398-167405398 3:167687610-167687610
9 IL6 IL6, -174G-CSNV risk factor 14718
10 PREX2 NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)SNV Likely pathogenic 545110 rs778089198 8:69030813-69030813 8:68118578-68118578
11 EGFR NM_005228.5(EGFR):c.1881-858G>TSNV Likely pathogenic 545112 rs909905659 7:55238010-55238010 7:55170317-55170317
12 ZFYVE16 NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)SNV Likely pathogenic 545111 rs1554047435 5:79747363-79747363 5:80451544-80451544
13 IL17RD NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)SNV Likely pathogenic 545109 rs577890523 3:57139956-57139956 3:57105928-57105928
14 MAP4K4 NM_001242559.2(MAP4K4):c.1694G>A (p.Arg565Gln)SNV Likely pathogenic 545107 rs781410462 2:102476316-102476316 2:101859854-101859854
15 SCUBE2 NM_001170690.2(SCUBE2):c.1592G>A (p.Cys531Tyr)SNV Likely pathogenic 545106 rs1555238867 11:9055289-9055289 11:9033742-9033742
16 TIMP3 NM_000362.4(TIMP3):c.311T>C (p.Leu104Pro)SNV Likely pathogenic 545105 rs1555985260 22:33253342-33253342 22:32857355-32857355
17 CDH2 NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)SNV Likely pathogenic 545108 rs1555630396 18:25565098-25565098 18:27985134-27985134
18 GLI2 NM_005270.4(GLI2):c.2644A>T (p.Thr882Ser)SNV Uncertain significance 523482 rs1332140763 2:121746134-121746134 2:120988558-120988558
19 CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)SNV Uncertain significance 523531 rs772718469 16:1270816-1270816 16:1220816-1220816
20 ADGRV1 NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)SNV Uncertain significance 523543 rs1554079046 5:89971137-89971137 5:90675320-90675320

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 COSM89067962 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 3
9 COSM105111282 central nervous system,brain,other,neoplasm c.447+13367A>G p.? 22:29655652-29655652 3
10 COSM105514140 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
11 COSM90465396 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 3
12 COSM112752272 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 3
13 COSM93220513 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 3
14 COSM102656129 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
15 COSM112752230 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 3
16 COSM90465359 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 3
17 COSM90465733 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 3
18 COSM94463526 central nervous system,brain,other,neoplasm c.452A>G p.Y151C 22:29655652-29655652 3
19 COSM92446479 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 3
20 COSM90465675 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 3
21 COSM95502154 central nervous system,brain,other,neoplasm c.449A>G p.Y150C 22:29655652-29655652 3
22 COSM102848205 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 3
23 COSM112752563 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 3
24 COSM112752610 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 3
25 COSM90466087 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 3
26 COSM112752921 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 3
27 COSM93474794 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 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 13)
# Super pathways Score Top Affiliating Genes
1 12.43 TEK RASA1 KRAS KDR FLT1
2
Show member pathways
12.36 TEK RASA1 KRAS KDR FLT1
3
Show member pathways
12 TEK KRAS KDR FLT1
4
Show member pathways
11.93 TEK RASA1 KRAS KDR IL6 FLT1
5 11.74 TEK IL6 FLT1
6 11.64 KRAS ENG ACVRL1
7 11.6 TEK IL6 FLT1
8
Show member pathways
11.57 RASA1 KDR FLT1
9
Show member pathways
11.5 KRAS KDR FLT1
10 11.07 KRAS KDR FLT1
11 10.87 TEK KDR FLT1 ENG
12
Show member pathways
10.7 KDR FLT1
13 10.51 TEK KDR FLT1

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 22)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.19 TEK STARD13 RASA1 OR1L1 KRAS IL6
2 negative regulation of apoptotic process GO:0043066 9.97 TEK RASA1 PDCD10 KDR IL6
3 positive regulation of cell proliferation GO:0008284 9.96 PDCD10 KRAS KDR IL6 FLT1
4 heart development GO:0007507 9.84 TEK SMG9 ENG ACVRL1
5 positive regulation of cell migration GO:0030335 9.83 PDCD10 KDR FLT1 CDKN2B-AS1
6 negative regulation of gene expression GO:0010629 9.8 PDCD10 KDR ENG CDKN2B-AS1 ACVRL1
7 positive regulation of gene expression GO:0010628 9.8 SOX17 PDCD10 KRAS IL6 ENG CDKN2B-AS1
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.78 TEK KDR FLT1
9 positive regulation of MAPK cascade GO:0043410 9.77 KDR IL6 FLT1
10 positive regulation of protein phosphorylation GO:0001934 9.76 TEK KRAS KDR ENG
11 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.72 TEK KDR FLT1
12 positive regulation of endothelial cell proliferation GO:0001938 9.69 TEK KDR ACVRL1
13 positive regulation of MAP kinase activity GO:0043406 9.65 PDCD10 KRAS FLT1
14 endocardial cushion morphogenesis GO:0003203 9.59 ENG ACVRL1
15 vascular endothelial growth factor signaling pathway GO:0038084 9.58 KDR FLT1
16 vasculogenesis GO:0001570 9.56 SOX17 RASA1 KDR ENG
17 positive regulation of angiogenesis GO:0045766 9.55 TEK KDR FLT1 ENG ACVRL1
18 blood vessel morphogenesis GO:0048514 9.54 RASA1 FLT1 ACVRL1
19 dorsal aorta morphogenesis GO:0035912 9.49 ENG ACVRL1
20 endocardial cushion to mesenchymal transition GO:0090500 9.43 ENG ACVRL1
21 sprouting angiogenesis GO:0002040 9.26 TEK KDR FLT1 ENG
22 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 10.3 TEK STARD13 SOX17 SMG9 SARS1 RBBP8
2 activin binding GO:0048185 9.32 ENG ACVRL1
3 vascular endothelial growth factor binding GO:0038085 9.26 KDR FLT1
4 vascular endothelial growth factor-activated receptor activity GO:0005021 9.16 KDR FLT1
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.13 TEK KDR FLT1
6 growth factor binding GO:0019838 8.8 TEK KDR FLT1

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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