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BAVM
MCID: ART141
MIFTS: 59

Arteriovenous Malformations of the Brain (BAVM)

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

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MalaCards integrated aliases for Arteriovenous Malformations of the Brain:

Name: Arteriovenous Malformations of the Brain 57 12 15
Cerebral Arteriovenous Malformation 12 59 29 6 40
Intracranial Arteriovenous Malformation 12 53 59 73
Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Susceptibility to 57 13 6
Intracranial Arteriovenous Malformations 76 44
Intracranial Hemorrhage in Brain Cerebrovascular Malformations 57
Arteriovenous Malformation of the Brain, Somatic 57
Cerebral Arteriovenous Malformations 57
Arteriovenous Malformations Cerebral 55
Intracranial Avm 53
Bavm 57

Characteristics:

Orphanet epidemiological data:

59
cerebral arteriovenous malformation
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arteriovenous malformations of the brain:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 108010
Disease Ontology 12 DOID:0060688
ICD10 33 Q28.2
MeSH 44 D002538
Orphanet 59 ORPHA46724
MESH via Orphanet 45 D002538
ICD10 via Orphanet 34 Q28.2
UMLS via Orphanet 74 C0917804 C0007772
MedGen 42 C0917804
SNOMED-CT via HPO 69 263681008 234142008
UMLS 73 C0007772
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Summaries for Arteriovenous Malformations of the Brain

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NIH Rare Diseases : 53 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 pulmonary arteriovenous malformation and intracranial aneurysm. An important gene associated with Arteriovenous Malformations of the Brain is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Ras signaling pathway and EPH-Ephrin signaling. The drugs Ethanol 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 An arteriovenous malformation that is located in the brain.

Wikipedia : 76 A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM) is an abnormal connection between the... more...

Description from OMIM: 108010
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Related Diseases for Arteriovenous Malformations of the Brain

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 30.1 ENG ACVRL1
2 intracranial aneurysm 30.0 SOX17 ENG CDKN2B-AS1
3 arteriovenous fistula 29.9 RASA1 IL6
4 telangiectasis 29.8 VEGFA ENG ACVRL1
5 arteriovenous malformation 29.2 VEGFA RASA1 IL6 EPHB4 ENG EFNB2
6 cerebral cavernous malformations 11.2
7 hereditary hemorrhagic telangiectasia 10.3
8 moyamoya disease 1 10.3
9 thrombosis 10.3
10 headache 10.3
11 heritable pulmonary arterial hypertension 10.1 ACVRL1 ENG SOX17
12 ischemia 10.1
13 weber syndrome 10.1 ACVRL1 ENG RASA1
14 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1 RASA1 ENG ACVRL1
15 venous malformations, multiple cutaneous and mucosal 10.0 RASA1 PDCD10 ACVRL1
16 pulmonary hypertension 10.0
17 malignant glioma 10.0
18 glioma 10.0
19 glomeruloid hemangioma 10.0 VEGFA ENG
20 critical limb ischemia 10.0 VEGFA IL6
21 peripheral artery disease 10.0 CDKN2B-AS1 VEGFA IL6
22 hydrocephalus 10.0
23 intracranial hypertension 10.0
24 cerebral aneurysms 10.0
25 hemifacial spasm 10.0
26 intestinal disease 10.0 VEGFA KRAS IL6
27 respiratory system disease 10.0 VEGFA KRAS IL6
28 hemangioma 10.0 VEGFA KRAS KDR
29 angiodysplasia 10.0 ACVRL1 ENG VEGFA
30 angiosarcoma 10.0 VEGFA KRAS KDR
31 drug-induced lupus erythematosus 10.0 VEGFA KDR ENG
32 breast carcinoma in situ 10.0 VEGFA KDR IL6
33 arteries, anomalies of 10.0 VEGFA IL6 ACVRL1
34 limb ischemia 10.0 VEGFA KDR IL6
35 bone squamous cell carcinoma 9.9 KDR ENG
36 capillary malformation-arteriovenous malformation 9.9 RASA1 EPHB4
37 endometriosis 9.9 VEGFA IL6 CDKN2B-AS1
38 angiokeratoma circumscriptum 9.9 VEGFA RASA1 KDR
39 skin hemangioma 9.9 KDR RASA1 VEGFA
40 posterior uveal melanoma 9.9 VEGFA THBS1
41 capillary hemangioma 9.9 KDR RASA1 VEGFA
42 gastrointestinal system cancer 9.9 IL6 KDR KRAS VEGFA
43 endocrine gland cancer 9.9 VEGFA KRAS KDR
44 intracranial hypertension, idiopathic 9.9
45 pseudoxanthoma elasticum 9.9
46 schizencephaly 9.9
47 optic nerve disease 9.9
48 neuropathy 9.9
49 hemophilia 9.9
50 myotonic dystrophy 9.9

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



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

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Symptoms via clinical synopsis from OMIM:

57
Vascular:
cerebral arteriovenous malformation


Clinical features from OMIM:

108010

Human phenotypes related to Arteriovenous Malformations of the Brain:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
2 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
3 peripheral arteriovenous fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0100784
4 cerebral arteriovenous malformation 32 HP:0002408

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 9.64 ACVRL1 EPHB4 KDR
2 Decreased viability GR00221-A-2 9.64 ACVRL1 EPHB4 KDR
3 Decreased viability GR00221-A-3 9.64 ACVRL1 KDR RASA1
4 Decreased viability GR00221-A-4 9.64 ACVRL1 EPHB4 KDR RASA1 THBS1
5 Decreased viability GR00301-A 9.64 EPHB4
6 Decreased viability GR00381-A-1 9.64 RASA1
7 Decreased viability GR00402-S-2 9.64 ACVRL1 EPHB4 KDR RASA1 THBS1

MGI Mouse Phenotypes related to Arteriovenous Malformations of the Brain:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 ACVRL1 EFNB2 ENG EPHB4 IL6 KDR
2 cellular MP:0005384 10.34 EFNB2 IL6 KDR KRAS LEMD3 PDCD10
3 growth/size/body region MP:0005378 10.32 ACVRL1 EFNB2 ENG EPHB4 IL6 KDR
4 embryo MP:0005380 10.3 ACVRL1 EFNB2 ENG EPHB4 KDR KRAS
5 mortality/aging MP:0010768 10.3 ACVRL1 CNNM2 EFNB2 ENG EPHB4 IL6
6 homeostasis/metabolism MP:0005376 10.26 ACVRL1 EFNB2 ENG IL6 KDR KRAS
7 hematopoietic system MP:0005397 10.24 ACVRL1 EFNB2 ENG IL6 KDR KRAS
8 immune system MP:0005387 10.23 EFNB2 EPHB4 IL6 KDR KRAS PDCD10
9 digestive/alimentary MP:0005381 10.19 ACVRL1 EFNB2 ENG IL6 KRAS RASA1
10 muscle MP:0005369 10.1 ACVRL1 EFNB2 ENG EPHB4 IL6 KDR
11 craniofacial MP:0005382 10.09 ACVRL1 EFNB2 ENG KDR KRAS RASA1
12 integument MP:0010771 10.03 EFNB2 ENG IL6 KDR KRAS PDCD10
13 liver/biliary system MP:0005370 9.95 ACVRL1 IL6 KDR KRAS SOX17 THBS1
14 neoplasm MP:0002006 9.8 IL6 KRAS PDCD10 RBBP8 STARD13 THBS1
15 normal MP:0002873 9.76 ACVRL1 EFNB2 ENG KDR KRAS PDCD10
16 renal/urinary system MP:0005367 9.56 ACVRL1 EFNB2 EPHB4 IL6 KRAS PDCD10
17 respiratory system MP:0005388 9.23 ACVRL1 EFNB2 ENG IL6 KDR KRAS
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Drugs & Therapeutics for Arteriovenous Malformations of the Brain

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
3
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
4
Minocycline Approved, Investigational Phase 1 10118-90-8 5281021
5 Antiprotozoal Agents Phase 1
6 Antiparasitic Agents Phase 1
7 Anti-Bacterial Agents Phase 1
8 Anti-Infective Agents Phase 1
9 Antimalarials Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations Recruiting NCT03691870 Phase 2
2 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
3 ONYX Evaluation in the Endovascular Treatment of Cerebral Arteriovenous Malformations (cAVM) Active, not recruiting NCT02180958
4 Treatment of Cerebral Arteriovenous Malformations With SQUID™ Liquid Embolic Agent Active, not recruiting NCT02602990
5 Biology of Cerebral Arteriovenous Malformations and Prognosis of Cerebral Arteriovenous Malformations Recruiting NCT03676868
6 PHIL Evaluation in the Endovascular Treatment of Intracranial Cerebral ArterioVenous Malformation (cAVM) Recruiting NCT03341039
7 Treatment of Cerebral Arteriovenous Malformations With SQUID Liquid Embolic Agent (CHOICE) Recruiting NCT03413852
8 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Recruiting NCT03209804 Not Applicable
9 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
10 Treatment of Brain AVMs (TOBAS) Study Recruiting NCT02098252 Not Applicable
11 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
12 Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT) Recruiting NCT03572556

Search NIH Clinical Center for Arteriovenous Malformations of the Brain

Cochrane evidence based reviews: intracranial arteriovenous malformations

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Genetic Tests for Arteriovenous Malformations of the Brain

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Genetic tests related to Arteriovenous Malformations of the Brain:

# Genetic test Affiliating Genes
1 Cerebral Arteriovenous Malformation 29 IL6 KRAS
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Anatomical Context for Arteriovenous Malformations of the Brain

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

41
Brain, Endothelial, Heart, Kidney, Skin, Bone, Breast

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

19
The Brain
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Publications for Arteriovenous Malformations of the Brain

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Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 442)
# Title Authors Year
1
Early Hemodynamic Response Assessment of Stereotactic Radiosurgery for a Cerebral Arteriovenous Malformation Using 4D Flow MRI. ( 29371257 )
2018
2
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29669234 )
2018
3
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29671469 )
2018
4
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29298116 )
2018
5
Pseudoaneurysm formation and rupture after stereotactic radiotherapy for cerebral arteriovenous malformation: a case report and review of literature. ( 29433331 )
2018
6
Combined treatment approach to cerebral arteriovenous malformation in pediatric patients: stereotactic radiosurgery to partially Onyx-embolized AVM. ( 29882061 )
2018
7
Complete spontaneous regression of cerebral arteriovenous malformation: a case report and review of the literature. ( 30059954 )
2018
8
Cerebral Arteriovenous Malformation Associated with a Cyst. ( 30069104 )
2018
9
Elevated end-diastolic ratio of the common carotid artery due to cerebral arteriovenous malformation: Two case reports. ( 30069280 )
2018
10
Growth of Thrombosed Cerebral Venous Varix Following Resection of Cerebral Arteriovenous Malformation: Case Report with Pathologic Consideration. ( 30144609 )
2018
11
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. ( 30497981 )
2018
12
Does Advanced Age Affect the Outcomes of Stereotactic Radiosurgery for Cerebral Arteriovenous Malformation? ( 29066317 )
2018
13
Contrast Time-Density Time on Digital Subtraction Angiography Correlates With Cerebral Arteriovenous Malformation Flow Measured by Quantitative Magnetic Resonance Angiography, Angioarchitecture, and Hemorrhage. ( 29106647 )
2018
14
In vitro characteristics of endothelial cells prepared from human cerebral arteriovenous malformation lesions using a novel method. ( 29111303 )
2018
15
Cerebral arteriovenous malformation draining vein stenosis is associated with atherosclerotic risk factors. ( 29184045 )
2018
16
The characteristics of transcranial color-coded duplex sonography in children with cerebral arteriovenous malformation presenting with headache. ( 29249075 )
2018
17
Cerebral arteriovenous malformation presenting as isolated bilateral pupil-sparing oculomotor, pseudoabducens palsy, and hemiataxia. ( 29455400 )
2018
18
Procedure for the Isolation of Endothelial Cells from Human Cerebral Arteriovenous Malformation (cAVM) Tissues. ( 29467624 )
2018
19
Review of de novo cerebral arteriovenous malformation: haemorrhage risk, treatment approaches and outcomes. ( 29469668 )
2018
20
Effect of Age on Cerebral Arteriovenous Malformation Draining Vein Stenosis. ( 29496581 )
2018
21
Positive pharmacologic provocative testing with methohexital during cerebral arteriovenous malformation embolization. ( 29501883 )
2018
22
Validation of cerebral arteriovenous malformation hemodynamics assessed by DSA using quantitative magnetic resonance angiography: preliminary study. ( 28235955 )
2018
23
ABC/2 Method Does not Accurately Predict Cerebral Arteriovenous Malformation Volume. ( 28605551 )
2018
24
Arteriovenous Malformations of the Brain. ( 28770979 )
2017
25
Successful presurgical endovascular management of venous sinus thrombosis associated with high-grade cerebral arteriovenous malformation: A case report. ( 28893127 )
2017
26
Multimodal Treatment Strategy for Spetzler-Martin Grade III Arteriovenous Malformations of the Brain. ( 27169498 )
2017
27
Arteriovenous Malformations of the Brain. ( 28767347 )
2017
28
The 'radical combined approach' in cerebral arteriovenous malformation treatment: Technical note. ( 28830640 )
2017
29
Arteriovenous Malformations of the Brain. ( 28767346 )
2017
30
Ascertaining the Value of Noninvasive Measures Obtained Using Color Duplex Ultrasound and Central Aortic Pressure Monitoring During the Management of Cerebral Arteriovenous Malformation Resection: Protocol for a Prospective, Case Control Pilot Study. ( 28860105 )
2017
31
Arteriovenous Malformations of the Brain. ( 28489992 )
2017
32
Cerebral Arteriovenous Malformation Detected by Newborn Congenital Heart Disease Screen with Echocardiography. ( 30062291 )
2017
33
Analysis of the Expression of Angioarchitecture-related Factors in Patients with Cerebral Arteriovenous Malformation. ( 29052569 )
2017
34
Diffusion Tensor Imaging for Ruptured Cerebral Arteriovenous Malformation. ( 29188165 )
2017
35
Changes in pulsatility and resistance indices of cerebral arteriovenous malformation feeder arteries after embolization and surgery. ( 27866455 )
2017
36
Long-term Spontaneous Partial Regression of a Cerebral Arteriovenous Malformation: 24-Year Follow-up. ( 28123135 )
2017
37
Application of Time-Resolved 3D Digital Subtraction Angiography to Plan Cerebral Arteriovenous Malformation Radiosurgery. ( 28126751 )
2017
38
Computer simulation of Cerebral Arteriovenous Malformation-validation analysis of hemodynamics parameters. ( 28149675 )
2017
39
Cerebral Arteriovenous Malformation Flow Is Associated With Venous Intimal Hyperplasia. ( 28235957 )
2017
40
Unusual Association: Cerebral Arteriovenous Malformation and Chiari Type I Malformation. ( 28328605 )
2017
41
Radiosurgery in treatment of cerebral arteriovenous malformation: Mid-term results of 388 cases from a single center. ( 28484523 )
2017
42
Simulation study of Hemodynamic in Bifurcations for Cerebral Arteriovenous Malformation using Electrical Analogy. ( 28580336 )
2017
43
Highlights on Cerebral Arteriovenous Malformation Treatment Using Combined Embolization and Stereotactic Radiosurgery: Why Outcomes are Controversial? ( 28652950 )
2017
44
Introduction to the supratentorial cerebral arteriovenous malformation video supplement. ( 28669268 )
2017
45
Cardiac Findings in the Fetus with Cerebral Arteriovenous Malformation Are Associated with Adverse Outcome. ( 27255338 )
2017
46
Multicenter assessment of morbidity associated with cerebral arteriovenous malformation hemorrhages. ( 27334979 )
2017
47
Arterial aneurysms associated with arteriovenous malformations of the brain: classification, incidence, risk of hemorrhage, and treatment-a systematic review. ( 27644700 )
2016
48
Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome. ( 27112169 )
2016
49
Effects of nidus microarchitecture on cerebral arteriovenous malformation hemodynamics. ( 26690759 )
2016
50
Spontaneous occlusion of cerebral arteriovenous malformation following partial embolization with Onyx. ( 28059672 )
2016
Sources

Variations for Arteriovenous Malformations of the Brain

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ClinVar genetic disease variations for Arteriovenous Malformations of the Brain:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL6 IL6, -174G-C single nucleotide variant risk factor
2 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 90675320: 90675320
3 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 89971137: 89971137
4 MAP4K4 NM_001242559.1(MAP4K4): c.1694G> A (p.Arg565Gln) single nucleotide variant Likely pathogenic rs781410462 GRCh37 Chromosome 2, 102476316: 102476316
5 IL17RD NM_017563.4(IL17RD): c.676G> A (p.Gly226Ser) single nucleotide variant Likely pathogenic rs577890523 GRCh38 Chromosome 3, 57105928: 57105928
6 IL17RD NM_017563.4(IL17RD): c.676G> A (p.Gly226Ser) single nucleotide variant Likely pathogenic rs577890523 GRCh37 Chromosome 3, 57139956: 57139956
7 ZFYVE16 NM_014733.5(ZFYVE16): c.3442G> T (p.Asp1148Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 80451544: 80451544
8 ZFYVE16 NM_014733.5(ZFYVE16): c.3442G> T (p.Asp1148Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 79747363: 79747363
9 EGFR NM_201284.1(EGFR): c.1891G> T (p.Glu631Ter) single nucleotide variant Likely pathogenic rs909905659 GRCh37 Chromosome 7, 55238010: 55238010
10 EGFR NM_201284.1(EGFR): c.1891G> T (p.Glu631Ter) single nucleotide variant Likely pathogenic rs909905659 GRCh38 Chromosome 7, 55170317: 55170317
11 PREX2 NM_024870.3(PREX2): c.3355G> A (p.Ala1119Thr) single nucleotide variant Likely pathogenic rs778089198 GRCh38 Chromosome 8, 68118578: 68118578
12 PREX2 NM_024870.3(PREX2): c.3355G> A (p.Ala1119Thr) single nucleotide variant Likely pathogenic rs778089198 GRCh37 Chromosome 8, 69030813: 69030813
13 ENG NM_000118.3(ENG): c.920dup (p.Asn307Lysfs) duplication Pathogenic GRCh38 Chromosome 9, 127824871: 127824871
14 ENG NM_000118.3(ENG): c.920dup (p.Asn307Lysfs) duplication Pathogenic GRCh37 Chromosome 9, 130587150: 130587150
15 SCUBE2 NM_001170690.1(SCUBE2): c.1592G> A (p.Cys531Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 9055289: 9055289
16 SCUBE2 NM_001170690.1(SCUBE2): c.1592G> A (p.Cys531Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 9033742: 9033742
17 LEMD3 NM_001167614.1(LEMD3): c.2636C> G (p.Thr879Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 65246228: 65246228
18 LEMD3 NM_001167614.1(LEMD3): c.2636C> G (p.Thr879Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 65640008: 65640008
19 PITPNM3 NM_031220.3(PITPNM3): c.274C> T (p.Arg92Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 6406847: 6406847
20 PITPNM3 NM_031220.3(PITPNM3): c.274C> T (p.Arg92Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 6503527: 6503527
21 CDH2 NM_001792.4(CDH2): c.2075A> G (p.Asn692Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 27985134: 27985134
22 CDH2 NM_001792.4(CDH2): c.2075A> G (p.Asn692Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 25565098: 25565098
23 TIMP3 NM_000362.4(TIMP3): c.311T> C (p.Leu104Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 33253342: 33253342
24 TIMP3 NM_000362.4(TIMP3): c.311T> C (p.Leu104Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 32857355: 32857355
25 MAP4K4 NM_001242559.1(MAP4K4): c.1694G> A (p.Arg565Gln) single nucleotide variant Likely pathogenic rs781410462 GRCh38 Chromosome 2, 101859854: 101859854
26 SARS NM_006513.3(SARS): c.971T> C (p.Ile324Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109235978: 109235978
27 SARS NM_006513.3(SARS): c.971T> C (p.Ile324Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 109778600: 109778600
28 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh38 Chromosome 16, 1220816: 1220816
29 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh37 Chromosome 16, 1270816: 1270816
30 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 120988558: 120988558
31 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 121746134: 121746134
32 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
33 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
34 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
35 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
36 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 167405398: 167405398
37 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 167687610: 167687610
Sources

Expression for Arteriovenous Malformations of the Brain

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

Pathways for Arteriovenous Malformations of the Brain

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Ras signaling pathway 37
Show member pathways
 12.44 KDR KRAS RASA1 THBS1 VEGFA
2
EPH-Ephrin signaling 66
Show member pathways
 12.2 EFNB2 EPHB4 KDR RASA1 VEGFA
3
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.17 KDR KRAS RASA1 VEGFA
4
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.15 EPHB4 IL6 KDR KRAS RASA1
5
Proteoglycans in cancer 37
11.97 KDR KRAS THBS1 VEGFA
6
Axon guidance 37
11.87 EFNB2 EPHB4 KRAS RASA1
7
AGE-RAGE signaling pathway in diabetic complications 37
11.7 IL6 KRAS VEGFA
8
TGF-beta Signaling Pathways 65
11.67 ACVRL1 ENG KRAS
9
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.63 KDR RASA1 VEGFA
10
Bladder cancer 37 1
11.47 KRAS THBS1 VEGFA
11
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.38 IL6 KDR SOX17 VEGFA
12
Vemurafenib Pathway, Pharmacodynamics 61
10.96 KDR KRAS VEGFA
13
Angiogenesis (CST) 4
10.87 EFNB2 ENG KDR THBS1
14
VEGF binds to VEGFR leading to receptor dimerization 66
Show member pathways
 10.74 KDR VEGFA
Sources

GO Terms for Arteriovenous Malformations of the Brain

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.92 ACVRL1 ENG EPHB4 KDR

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.98 EPHB4 IL6 KDR PDCD10 RASA1 THBS1
2 positive regulation of cell proliferation GO:0008284 9.95 EFNB2 IL6 KDR KRAS PDCD10 THBS1
3 positive regulation of protein phosphorylation GO:0001934 9.87 ENG KDR KRAS VEGFA
4 positive regulation of cell migration GO:0030335 9.85 CDKN2B-AS1 KDR PDCD10 THBS1 VEGFA
5 negative regulation of gene expression GO:0010629 9.8 ACVRL1 CDKN2B-AS1 ENG KDR PDCD10 VEGFA
6 positive regulation of gene expression GO:0010628 9.8 CDKN2B-AS1 ENG IL6 KRAS PDCD10 SOX17
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.79 IL6 PDCD10 VEGFA
8 ephrin receptor signaling pathway GO:0048013 9.78 EFNB2 EPHB4 RASA1
9 positive regulation of endothelial cell proliferation GO:0001938 9.77 ACVRL1 KDR VEGFA
10 positive regulation of angiogenesis GO:0045766 9.77 ACVRL1 ENG KDR THBS1 VEGFA
11 positive regulation of MAP kinase activity GO:0043406 9.76 KRAS PDCD10 VEGFA
12 positive regulation of endothelial cell migration GO:0010595 9.73 KDR THBS1 VEGFA
13 positive regulation of blood vessel endothelial cell migration GO:0043536 9.72 KDR THBS1 VEGFA
14 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.7 PDCD10 STARD13 THBS1
15 sprouting angiogenesis GO:0002040 9.67 ENG THBS1 VEGFA
16 blood vessel morphogenesis GO:0048514 9.65 ACVRL1 EFNB2 RASA1
17 endocardial cushion morphogenesis GO:0003203 9.63 ACVRL1 ENG
18 negative regulation of focal adhesion assembly GO:0051895 9.63 ACVRL1 THBS1
19 vascular endothelial growth factor signaling pathway GO:0038084 9.62 KDR VEGFA
20 positive regulation of positive chemotaxis GO:0050927 9.62 KDR VEGFA
21 dorsal aorta morphogenesis GO:0035912 9.59 ACVRL1 ENG
22 venous blood vessel morphogenesis GO:0048845 9.58 EFNB2 ENG
23 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.54 KDR VEGFA
24 endocardial cushion to mesenchymal transition GO:0090500 9.51 ACVRL1 ENG
25 cell migration involved in sprouting angiogenesis GO:0002042 9.46 EFNB2 EPHB4 KDR VEGFA
26 vasculogenesis GO:0001570 9.35 ENG KDR RASA1 SOX17 VEGFA
27 angiogenesis GO:0001525 9.23 ACVRL1 ENG EPHB4 KDR LEMD3 PDCD10

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 9.6 ACVRL1 CDKN2B-AS1 EFNB2 ENG EPHB4 IL6
2 activin binding GO:0048185 9.16 ACVRL1 ENG
3 transforming growth factor beta binding GO:0050431 9.13 ACVRL1 ENG THBS1
Sources

Sources for Arteriovenous Malformations of the Brain

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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