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MCID: ART141
MIFTS: 59

Arteriovenous Malformations of the Brain

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 58 12 15
Cerebral Arteriovenous Malformation 12 60 30 6 41
Intracranial Arteriovenous Malformation 12 54 60 74
Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Susceptibility to 58 13 6
Intracranial Arteriovenous Malformations 77 45
Intracranial Hemorrhage in Brain Cerebrovascular Malformations 58
Arteriovenous Malformation of the Brain, Somatic 58
Cerebral Arteriovenous Malformations 58
Arteriovenous Malformations Cerebral 56
Intracranial Avm 54
Bavm 58

Characteristics:

Orphanet epidemiological data:

60
cerebral arteriovenous malformation
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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: 34 35
Orphanet: 60  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060688
OMIM 58 108010
MeSH 45 D002538
ICD10 34 Q28.2
MESH via Orphanet 46 D002538
ICD10 via Orphanet 35 Q28.2
UMLS via Orphanet 75 C0007772 C0917804
Orphanet 60 ORPHA46724
MedGen 43 C0917804
SNOMED-CT via HPO 70 234142008 263681008
UMLS 74 C0007772
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Summaries for Arteriovenous Malformations of the Brain

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NIH Rare Diseases : 54 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 telangiectasis and arteriovenous fistula. 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 Tetracycline have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and kidney, 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 : 77 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 128)
# Related Disease Score Top Affiliating Genes
1 telangiectasis 30.4 ACVRL1 ENG VEGFA
2 arteriovenous fistula 30.2 IL6 RASA1
3 intracranial aneurysm 30.2 CDKN2B-AS1 ENG SOX17
4 arteriovenous malformation 29.5 ACVRL1 EFNB2 ENG EPHB4 IL6 RASA1
5 cerebral cavernous malformations 11.2
6 capillary malformation-arteriovenous malformation 1 11.2
7 wyburn-mason syndrome 11.1
8 hereditary hemorrhagic telangiectasia 10.4
9 thrombosis 10.3
10 pulmonary arteriovenous malformation 10.3 ACVRL1 ENG
11 moyamoya disease 1 10.3
12 intracranial hypertension 10.3
13 hemorrhage, intracerebral 10.2
14 heritable pulmonary arterial hypertension 10.2 ACVRL1 ENG SOX17
15 blood group, junior system 10.1
16 alopecia 10.1
17 hydrocephalus 10.1
18 ischemia 10.1
19 hypoxia 10.1
20 seizure disorder 10.1
21 weber syndrome 10.1 ACVRL1 ENG RASA1
22 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1 ACVRL1 ENG RASA1
23 venous malformations, multiple cutaneous and mucosal 10.1 ACVRL1 PDCD10 RASA1
24 pulmonary hypertension 10.1
25 malignant glioma 10.1
26 glioma 10.1
27 critical limb ischemia 10.1 IL6 VEGFA
28 peripheral artery disease 10.0 CDKN2B-AS1 IL6 VEGFA
29 glomeruloid hemangioma 10.0 ENG VEGFA
30 rere-related disorders 10.0
31 congenital hydrocephalus 10.0
32 cerebral aneurysms 10.0
33 hemifacial spasm 10.0
34 intestinal disease 10.0 IL6 KRAS VEGFA
35 respiratory system disease 10.0 IL6 KRAS VEGFA
36 hemangioma 10.0 KDR KRAS VEGFA
37 angiodysplasia 10.0 ACVRL1 ENG VEGFA
38 angiosarcoma 10.0 KDR KRAS VEGFA
39 drug-induced lupus erythematosus 9.9 ENG KDR VEGFA
40 limb ischemia 9.9 IL6 KDR VEGFA
41 arteries, anomalies of 9.9 ACVRL1 IL6 VEGFA
42 bone squamous cell carcinoma 9.9 ENG KDR
43 klippel-trenaunay-weber syndrome 9.9
44 chromosome 2q35 duplication syndrome 9.9
45 tetralogy of fallot 9.9
46 intracranial hypertension, idiopathic 9.9
47 pseudoxanthoma elasticum 9.9
48 schizencephaly 9.9
49 optic nerve disease 9.9
50 pituitary adenoma 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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Human phenotypes related to Arteriovenous Malformations of the Brain:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0100659
2 visceral angiomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100761
3 peripheral arteriovenous fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0100784
4 cerebral arteriovenous malformation 33 HP:0002408

Symptoms via clinical synopsis from OMIM:

58
Vascular:
cerebral arteriovenous malformation

Clinical features from OMIM:

108010

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

27
# 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:

47 (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
Sources

Drugs & Therapeutics for Arteriovenous Malformations of the Brain

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

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

Interventional clinical trials:

(show all 13)
# 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) Active, not 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
13 Intraoperative Fluorescence With Augmented Reality Not yet recruiting NCT03888014 indocyanine green (ICG)

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 30 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:

42
Brain, Endothelial, Kidney, Heart, T Cells, Testes, Bone

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

20
The Brain
Sources

Publications for Arteriovenous Malformations of the Brain

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Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 468)
# Title Authors Year
1
Ruptured cerebral arteriovenous malformation during fifth pregnancy: A case report and literature review. ( 30611953 )
2019
2
Arterial-Spin Labeling MRI Identifies Residual Cerebral Arteriovenous Malformation Following Stereotactic Radiosurgery Treatment. ( 30658138 )
2019
3
Usefulness of High-Resolution Three-Dimensional Multifusion Medical Imaging for Preoperative Planning in Patients with Cerebral Arteriovenous Malformation. ( 30677580 )
2019
4
Cerebral arteriovenous malformation venous stenosis is associated with hemodynamic changes at the draining vein-venous sinus junction. ( 30696602 )
2019
5
Surgery for Intractable Seizures After Successful Radiosurgery of Cerebral Arteriovenous Malformation. ( 30716879 )
2019
6
De Novo Development of a Cerebral Arteriovenous Malformation: Case Report and Review of the Literature. ( 30885864 )
2019
7
Hydrocephalus due to a cavernoma-like lesion of an obliterated cerebral arteriovenous malformation treated by embolization and radiosurgery. ( 30885872 )
2019
8
Combined Microsurgery and Endovascular Intervention in One-Stop for Treatment of Cerebral Arteriovenous Malformation: The Efficacy of a Hybrid Operation. ( 31018668 )
2019
9
Cerebral arteriotomy to retrieve an entrapped microcatheter after a partial cerebral arteriovenous malformation embolization. ( 31085874 )
2019
10
In Reply to "Surgery for Intractable Seizures After Successful Radiosurgery of Cerebral Arteriovenous Malformation". ( 30481623 )
2019
11
Synchronous cerebral arteriovenous malformation and lung adenocarcinoma carcinoma brain metastases: A case study and literature review. ( 30638546 )
2019
12
Activating KRAS mutations in arteriovenous malformations of the brain: frequency and Clinicopathologic correlation. ( 31026472 )
2019
13
Intractable brain swelling during cerebral arteriovenous malformation surgery due to contralateral acute subdural haematoma. ( 30636801 )
2018
14
Combined treatment approach to cerebral arteriovenous malformation in pediatric patients: stereotactic radiosurgery to partially Onyx-embolized AVM. ( 29882061 )
2018
15
Complete spontaneous regression of cerebral arteriovenous malformation: a case report and review of the literature. ( 30059954 )
2018
16
Cerebral Arteriovenous Malformation Associated with a Cyst. ( 30069104 )
2018
17
Elevated end-diastolic ratio of the common carotid artery due to cerebral arteriovenous malformation: Two case reports. ( 30069280 )
2018
18
Growth of Thrombosed Cerebral Venous Varix Following Resection of Cerebral Arteriovenous Malformation: Case Report with Pathologic Consideration. ( 30144609 )
2018
19
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
20
Does Advanced Age Affect the Outcomes of Stereotactic Radiosurgery for Cerebral Arteriovenous Malformation? ( 29066317 )
2018
21
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
22
In vitro characteristics of endothelial cells prepared from human cerebral arteriovenous malformation lesions using a novel method. ( 29111303 )
2018
23
Cerebral arteriovenous malformation draining vein stenosis is associated with atherosclerotic risk factors. ( 29184045 )
2018
24
The characteristics of transcranial color-coded duplex sonography in children with cerebral arteriovenous malformation presenting with headache. ( 29249075 )
2018
25
Early Hemodynamic Response Assessment of Stereotactic Radiosurgery for a Cerebral Arteriovenous Malformation Using 4D Flow MRI. ( 29371257 )
2018
26
Pseudoaneurysm formation and rupture after stereotactic radiotherapy for cerebral arteriovenous malformation: a case report and review of literature. ( 29433331 )
2018
27
Cerebral arteriovenous malformation presenting as isolated bilateral pupil-sparing oculomotor, pseudoabducens palsy, and hemiataxia. ( 29455400 )
2018
28
Procedure for the Isolation of Endothelial Cells from Human Cerebral Arteriovenous Malformation (cAVM) Tissues. ( 29467624 )
2018
29
Review of de novo cerebral arteriovenous malformation: haemorrhage risk, treatment approaches and outcomes. ( 29469668 )
2018
30
Effect of Age on Cerebral Arteriovenous Malformation Draining Vein Stenosis. ( 29496581 )
2018
31
Positive pharmacologic provocative testing with methohexital during cerebral arteriovenous malformation embolization. ( 29501883 )
2018
32
ABC/2 Method Does not Accurately Predict Cerebral Arteriovenous Malformation Volume. ( 28605551 )
2018
33
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29298116 )
2018
34
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29671469 )
2018
35
Validation of cerebral arteriovenous malformation hemodynamics assessed by DSA using quantitative magnetic resonance angiography: preliminary study. ( 28235955 )
2018
36
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29669234 )
2018
37
Cerebral Arteriovenous Malformation Detected by Newborn Congenital Heart Disease Screen with Echocardiography. ( 30062291 )
2017
38
Analysis of the Expression of Angioarchitecture-related Factors in Patients with Cerebral Arteriovenous Malformation. ( 29052569 )
2017
39
Diffusion Tensor Imaging for Ruptured Cerebral Arteriovenous Malformation. ( 29188165 )
2017
40
Radiosurgery in treatment of cerebral arteriovenous malformation: Mid-term results of 388 cases from a single center. ( 28484523 )
2017
41
Simulation study of Hemodynamic in Bifurcations for Cerebral Arteriovenous Malformation using Electrical Analogy. ( 28580336 )
2017
42
Highlights on Cerebral Arteriovenous Malformation Treatment Using Combined Embolization and Stereotactic Radiosurgery: Why Outcomes are Controversial? ( 28652950 )
2017
43
Introduction to the supratentorial cerebral arteriovenous malformation video supplement. ( 28669268 )
2017
44
Changes in pulsatility and resistance indices of cerebral arteriovenous malformation feeder arteries after embolization and surgery. ( 27866455 )
2017
45
Spontaneous occlusion of cerebral arteriovenous malformation following partial embolization with Onyx. ( 28059672 )
2017
46
Long-term Spontaneous Partial Regression of a Cerebral Arteriovenous Malformation: 24-Year Follow-up. ( 28123135 )
2017
47
Multimodal Treatment Strategy for Spetzler-Martin Grade III Arteriovenous Malformations of the Brain. ( 27169498 )
2017
48
Arteriovenous Malformations of the Brain. ( 28489992 )
2017
49
Arteriovenous Malformations of the Brain. ( 28767346 )
2017
50
Arteriovenous Malformations of the Brain. ( 28767347 )
2017
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 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
2 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
3 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance rs1332140763 GRCh38 Chromosome 2, 120988558: 120988558
4 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance rs1332140763 GRCh37 Chromosome 2, 121746134: 121746134
5 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh37 Chromosome 16, 1270816: 1270816
6 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh38 Chromosome 16, 1220816: 1220816
7 PITPNM3 NM_031220.3(PITPNM3): c.274C> T (p.Arg92Ter) single nucleotide variant Pathogenic rs1555556099 GRCh37 Chromosome 17, 6406847: 6406847
8 PITPNM3 NM_031220.3(PITPNM3): c.274C> T (p.Arg92Ter) single nucleotide variant Pathogenic rs1555556099 GRCh38 Chromosome 17, 6503527: 6503527
9 CDH2 NM_001792.4(CDH2): c.2075A> G (p.Asn692Ser) single nucleotide variant Likely pathogenic rs1555630396 GRCh38 Chromosome 18, 27985134: 27985134
10 CDH2 NM_001792.4(CDH2): c.2075A> G (p.Asn692Ser) single nucleotide variant Likely pathogenic rs1555630396 GRCh37 Chromosome 18, 25565098: 25565098
11 TIMP3 NM_000362.4(TIMP3): c.311T> C (p.Leu104Pro) single nucleotide variant Likely pathogenic rs1555985260 GRCh37 Chromosome 22, 33253342: 33253342
12 TIMP3 NM_000362.4(TIMP3): c.311T> C (p.Leu104Pro) single nucleotide variant Likely pathogenic rs1555985260 GRCh38 Chromosome 22, 32857355: 32857355
13 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance rs1554079046 GRCh37 Chromosome 5, 89971137: 89971137
14 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance rs1554079046 GRCh38 Chromosome 5, 90675320: 90675320
15 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 GRCh37 Chromosome 3, 167405398: 167405398
16 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 GRCh38 Chromosome 3, 167687610: 167687610
17 IL6 IL6, -174G-C single nucleotide variant risk factor
18 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
19 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
20 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
21 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
22 LEMD3 NM_001167614.1(LEMD3): c.2636C> G (p.Thr879Ser) single nucleotide variant Pathogenic rs1555196298 GRCh37 Chromosome 12, 65640008: 65640008
23 LEMD3 NM_001167614.1(LEMD3): c.2636C> G (p.Thr879Ser) single nucleotide variant Pathogenic rs1555196298 GRCh38 Chromosome 12, 65246228: 65246228
24 SCUBE2 NM_001170690.1(SCUBE2): c.1592G> A (p.Cys531Tyr) single nucleotide variant Likely pathogenic rs1555238867 GRCh38 Chromosome 11, 9033742: 9033742
25 SCUBE2 NM_001170690.1(SCUBE2): c.1592G> A (p.Cys531Tyr) single nucleotide variant Likely pathogenic rs1555238867 GRCh37 Chromosome 11, 9055289: 9055289
26 ENG NM_000118.3(ENG): c.920dup (p.Asn307Lysfs) duplication Pathogenic rs1554810174 GRCh37 Chromosome 9, 130587150: 130587150
27 ENG NM_000118.3(ENG): c.920dup (p.Asn307Lysfs) duplication Pathogenic rs1554810174 GRCh38 Chromosome 9, 127824871: 127824871
28 PREX2 NM_024870.3(PREX2): c.3355G> A (p.Ala1119Thr) single nucleotide variant Likely pathogenic rs778089198 GRCh37 Chromosome 8, 69030813: 69030813
29 PREX2 NM_024870.3(PREX2): c.3355G> A (p.Ala1119Thr) single nucleotide variant Likely pathogenic rs778089198 GRCh38 Chromosome 8, 68118578: 68118578
30 EGFR NM_201284.1(EGFR): c.1891G> T (p.Glu631Ter) single nucleotide variant Likely pathogenic rs909905659 GRCh38 Chromosome 7, 55170317: 55170317
31 EGFR NM_201284.1(EGFR): c.1891G> T (p.Glu631Ter) single nucleotide variant Likely pathogenic rs909905659 GRCh37 Chromosome 7, 55238010: 55238010
32 ZFYVE16 NM_014733.5(ZFYVE16): c.3442G> T (p.Asp1148Tyr) single nucleotide variant Likely pathogenic rs1554047435 GRCh37 Chromosome 5, 79747363: 79747363
33 ZFYVE16 NM_014733.5(ZFYVE16): c.3442G> T (p.Asp1148Tyr) single nucleotide variant Likely pathogenic rs1554047435 GRCh38 Chromosome 5, 80451544: 80451544
34 IL17RD NM_017563.4(IL17RD): c.676G> A (p.Gly226Ser) single nucleotide variant Likely pathogenic rs577890523 GRCh37 Chromosome 3, 57139956: 57139956
35 IL17RD NM_017563.4(IL17RD): c.676G> A (p.Gly226Ser) single nucleotide variant Likely pathogenic rs577890523 GRCh38 Chromosome 3, 57105928: 57105928
36 MAP4K4 NM_001242559.1(MAP4K4): c.1694G> A (p.Arg565Gln) single nucleotide variant Likely pathogenic rs781410462 GRCh37 Chromosome 2, 102476316: 102476316
37 MAP4K4 NM_001242559.1(MAP4K4): c.1694G> A (p.Arg565Gln) single nucleotide variant Likely pathogenic rs781410462 GRCh38 Chromosome 2, 101859854: 101859854
38 SARS NM_006513.3(SARS): c.971T> C (p.Ile324Thr) single nucleotide variant Pathogenic rs1553178399 GRCh38 Chromosome 1, 109235978: 109235978
39 SARS NM_006513.3(SARS): c.971T> C (p.Ile324Thr) single nucleotide variant Pathogenic rs1553178399 GRCh37 Chromosome 1, 109778600: 109778600

Cosmic variations for Arteriovenous Malformations of the Brain:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 0
2 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 0
3 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 0
4 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 0
5 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 0
6 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 0
7 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 0
8 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 0
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Expression for Arteriovenous Malformations of the Brain

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

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Ras signaling pathway 38
Show member pathways
 12.44 KDR KRAS RASA1 THBS1 VEGFA
2
EPH-Ephrin signaling 67
Show member pathways
 12.2 EFNB2 EPHB4 KDR RASA1 VEGFA
3
Development VEGF signaling via VEGFR2 - generic cascades 23
Show member pathways
 12.17 KDR KRAS RASA1 VEGFA
4
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.15 EPHB4 IL6 KDR KRAS RASA1
5
Proteoglycans in cancer 38
11.97 KDR KRAS THBS1 VEGFA
6
Axon guidance 38
11.88 EFNB2 EPHB4 KRAS RASA1
7
AGE-RAGE signaling pathway in diabetic complications 38
11.7 IL6 KRAS VEGFA
8
TGF-beta Signaling Pathways 66
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 1 38
11.47 KRAS THBS1 VEGFA
11
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.38 IL6 KDR SOX17 VEGFA
12
Vemurafenib Pathway, Pharmacodynamics 62
10.97 KDR KRAS VEGFA
13
Angiogenesis (CST) 4
10.87 EFNB2 ENG KDR THBS1
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 positive regulation of cell proliferation GO:0008284 9.95 EFNB2 IL6 KDR KRAS PDCD10 THBS1
2 negative regulation of apoptotic process GO:0043066 9.91 IL6 KDR PDCD10 RASA1 THBS1 VEGFA
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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