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BAVM
MCID: ART141
MIFTS: 56

Arteriovenous Malformations of the Brain (BAVM)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases, Cancer 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 intracranial aneurysm 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 Ras signaling pathway and Development VEGF signaling via VEGFR2 - generic cascades. The drugs Doxycycline and Minocycline have been mentioned in the context of this disorder. Affiliated tissues include the brain, brain and endothelial, 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 all 37)
# Related Disease Score Top Affiliating Genes
1 intracranial aneurysm 30.4 CDKN2B-AS1 ENG SOX17
2 arteriovenous malformation 28.1 ACVRL1 ENG EPHB4 IL6 RASA1 VEGFA
3 cerebral cavernous malformations 11.0
4 telangiectasia, hereditary hemorrhagic, type 1 10.6 ACVRL1 ENG
5 pulmonary arteriovenous malformation 10.6 ACVRL1 ENG
6 pulmonary hypertension, primary, 1 10.5 ACVRL1 ENG
7 cerebritis 10.3
8 heritable pulmonary arterial hypertension 10.3 ACVRL1 ENG
9 arteriovenous fistula 10.1 IL6 RASA1
10 weber syndrome 10.1 ACVRL1 ENG RASA1
11 capillary malformation-arteriovenous malformation 10.0 EPHB4 RASA1
12 venous malformations, multiple cutaneous and mucosal 10.0 ACVRL1 PDCD10 RASA1
13 aneurysm 9.9
14 critical limb ischemia 9.8 IL6 VEGFA
15 peripheral artery disease 9.8 CDKN2B-AS1 IL6 VEGFA
16 glomeruloid hemangioma 9.8 ENG VEGFA
17 central nervous system vasculitis 9.8
18 vasculitis 9.8
19 endometriosis 9.8 CDKN2B-AS1 IL6 VEGFA
20 gastrointestinal system cancer 9.8 IL6 KRAS VEGFA
21 angiodysplasia 9.7 ACVRL1 ENG VEGFA
22 angiosarcoma 9.6 KDR KRAS VEGFA
23 limb ischemia 9.6 IL6 KDR VEGFA
24 arteries, anomalies of 9.6 ACVRL1 IL6 VEGFA
25 hemangioma 9.6 KDR KRAS VEGFA
26 angiokeratoma circumscriptum 9.4 KDR RASA1 VEGFA
27 capillary hemangioma 9.4 KDR RASA1 VEGFA
28 skin hemangioma 9.4 KDR RASA1 VEGFA
29 spinal disease 9.3 IL6 VEGFA
30 corneal neovascularization 9.3 KDR THBS1 VEGFA
31 posterior uveal melanoma 9.2 THBS1 VEGFA
32 vascular disease 9.2 ACVRL1 ENG IL6 VEGFA
33 telangiectasis 9.1 ACVRL1 ENG RASA1 VEGFA
34 pulmonary hypertension 9.1 ACVRL1 ENG IL6 VEGFA
35 pre-eclampsia 9.1 ENG IL6 KDR VEGFA
36 vascular cancer 9.0 ENG KDR THBS1 VEGFA
37 ewing sarcoma 8.6 ENG IL6 KDR THBS1 VEGFA

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 EPHB4 KDR ACVRL1
2 Decreased viability GR00221-A-2 9.64 EPHB4 KDR ACVRL1
3 Decreased viability GR00221-A-3 9.64 KDR RASA1 ACVRL1
4 Decreased viability GR00221-A-4 9.64 EPHB4 KDR RASA1 THBS1 ACVRL1
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 EPHB4 KDR RASA1 THBS1 ACVRL1

MGI Mouse Phenotypes related to Arteriovenous Malformations of the Brain:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 LEMD3 PDCD10 RASA1 SOX17 STARD13 THBS1
2 cellular MP:0005384 10.24 IL6 KDR KRAS LEMD3 PDCD10 RASA1
3 growth/size/body region MP:0005378 10.21 ACVRL1 ENG EPHB4 IL6 KDR KRAS
4 embryo MP:0005380 10.2 ACVRL1 ENG EPHB4 KDR KRAS LEMD3
5 mortality/aging MP:0010768 10.16 ACVRL1 CNNM2 ENG EPHB4 IL6 KDR
6 immune system MP:0005387 10.11 EPHB4 IL6 KDR KRAS PDCD10 RASA1
7 hematopoietic system MP:0005397 10.1 KRAS PDCD10 SOX17 STARD13 THBS1 VEGFA
8 digestive/alimentary MP:0005381 10.08 SOX17 THBS1 VEGFA ACVRL1 ENG IL6
9 muscle MP:0005369 9.9 KRAS PDCD10 RASA1 SOX17 THBS1 VEGFA
10 liver/biliary system MP:0005370 9.87 ACVRL1 IL6 KDR KRAS SOX17 THBS1
11 neoplasm MP:0002006 9.5 PDCD10 RBBP8 STARD13 THBS1 VEGFA IL6
12 respiratory system MP:0005388 9.17 ACVRL1 ENG IL6 KDR KRAS THBS1
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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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
2
Minocycline Approved, Investigational Phase 1 10118-90-8 5281021
3
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
4 Anti-Bacterial Agents Phase 1
5 Anti-Infective Agents Phase 1
6 Antimalarials Phase 1
7 Antiparasitic Agents Phase 1
8 Antiprotozoal Agents Phase 1

Interventional clinical trials:


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

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

19
The Brain

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

41
Brain, Endothelial, T Cells, Testes
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 220)
# 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
Arteriovenous Malformations of the Brain. ( 28770979 )
2017
8
Successful presurgical endovascular management of venous sinus thrombosis associated with high-grade cerebral arteriovenous malformation: A case report. ( 28893127 )
2017
9
Multimodal Treatment Strategy for Spetzler-Martin Grade III Arteriovenous Malformations of the Brain. ( 27169498 )
2017
10
Clinical Experience with Intraoperative Ultrasonographic Image in Microsurgical Resection of Cerebral Arteriovenous Malformations. ( 27713067 )
2017
11
Application of Multimodal Navigation together with Fluorescein Angiography in Microsurgical Treatment of Cerebral Arteriovenous Malformations. ( 29093495 )
2017
12
Arteriovenous Malformations of the Brain. ( 28767347 )
2017
13
The 'radical combined approach' in cerebral arteriovenous malformation treatment: Technical note. ( 28830640 )
2017
14
Arteriovenous Malformations of the Brain. ( 28767346 )
2017
15
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
16
Arteriovenous Malformations of the Brain. ( 28489992 )
2017
17
Multicenter assessment of morbidity associated with cerebral arteriovenous malformation hemorrhages. ( 27334979 )
2017
18
Arterial aneurysms associated with arteriovenous malformations of the brain: classification, incidence, risk of hemorrhage, and treatment-a systematic review. ( 27644700 )
2016
19
Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome. ( 27112169 )
2016
20
Effects of nidus microarchitecture on cerebral arteriovenous malformation hemodynamics. ( 26690759 )
2016
21
Spontaneous occlusion of cerebral arteriovenous malformation following partial embolization with Onyx. ( 28059672 )
2016
22
Critical assessment of the morbidity associated with ruptured cerebral arteriovenous malformations. ( 25568227 )
2016
23
Relationship of pulsatility and resistance indices to cerebral arteriovenous malformation angioarchitectural features and hemorrhage. ( 27595365 )
2016
24
Chronic Encapsulated Expanding Thalamic Hematoma Associated with Obstructive Hydrocephalus following Radiosurgery for a Cerebral Arteriovenous Malformation: A Case Report and Literature Review. ( 26904328 )
2016
25
Evaluation of 4D vascular flow and tissue perfusion in cerebral arteriovenous malformations: influence of Spetzler-Martin grade, clinical presentation, and AVM risk factors. ( 25721076 )
2015
26
Effect of Prior Embolization on Cerebral Arteriovenous Malformation Radiosurgery Outcomes: A Case-Control Study. ( 25875580 )
2015
27
Changes in Wall Shear Stress of Cerebral Arteriovenous Malformation Feeder Arteries After Embolization and Surgery. ( 25813197 )
2015
28
Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain. ( 25053769 )
2015
29
Balloon-augmented Onyx embolization of cerebral arteriovenous malformations using a dual-lumen balloon: a multicenter experience. ( 25118193 )
2015
30
Growing Organized Hematomas Following Gamma Knife Radiosurgery for Cerebral Arteriovenous Malformation : Five Cases of Surgical Excision. ( 26279820 )
2015
31
Animal Models in Studying Cerebral Arteriovenous Malformation. ( 26649296 )
2015
32
Multimodal angiographic assessment of cerebral arteriovenous malformations: a pilot study. ( 25280569 )
2015
33
Imaging the spontaneous obliteration of a cerebral arteriovenous malformation using c-arm cone beam computed tomography: A case report. ( 26500802 )
2015
34
Commentary: magnetic resonance imaging assessment of cerebral arteriovenous malformation obliteration after stereotactic radiosurgery. ( 24356200 )
2014
35
Transcranial color-coded Doppler assessment of cerebral arteriovenous malformation hemodynamics in patients treated surgically or with staged embolization. ( 24309152 )
2014
36
Surgery for unruptured arteriovenous malformations of the brain is better than conservative management for selected cases: a prospective cohort study. ( 25105704 )
2014
37
Advances in radiosurgery for arteriovenous malformations of the brain. ( 24402493 )
2014
38
Temporary radiation-induced alopecia after embolization of a cerebral arteriovenous malformation. ( 25284057 )
2014
39
Cerebral arteriovenous malformation associated with moyamoya disease. ( 25371789 )
2014
40
Current treatment options for cerebral arteriovenous malformations in pregnancy: a review of the literature. ( 23314028 )
2014
41
MicroRNA-18a Improves Human Cerebral Arteriovenous Malformation Endothelial Cell Function. ( 24203843 )
2014
42
Proton beam stereotactic radiosurgery for pediatric cerebral arteriovenous malformations. ( 24448188 )
2014
43
Endovascular Embolization of Cerebral Arteriovenous Malformations: Results of the Japanese Registry of Neuroendovascular Therapy (JR-NET) 1 and 2. ( 26280062 )
2014
44
Ephrin B2 and EphB4 selectively mark arterial and venous vessels in cerebral arteriovenous malformation. ( 24517927 )
2014
45
Neuropsychological outcomes of stereotactic radiotherapy for cerebral arteriovenous malformations. ( 24216063 )
2014
46
Spontaneous thrombosis of a cerebral arteriovenous malformation. ( 25387640 )
2014
47
Late clinical and radiological complications of stereotactical radiosurgery of arteriovenous malformations of the brain. ( 23183855 )
2013
48
Cerebral arteriovenous malformation presenting with polycythemia vera: A case report and literature review. ( 23959406 )
2013
49
Magnetic resonance spectroscopic study of radiogenic changes after radiosurgery of cerebral arteriovenous malformations with implications for the differential diagnosis of radionecrosis. ( 23497623 )
2013
50
Evaluation of cerebral arteriovenous malformation using 'dual vessel fusion' technology. ( 24235097 )
2013
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 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
2 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
3 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
4 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
5 IL6 IL6, -174G-C single nucleotide variant risk factor
6 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 167687610: 167687610
7 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 167405398: 167405398
8 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 121746134: 121746134
9 GLI2 NM_005270.4(GLI2): c.2644A> T (p.Thr882Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 120988558: 120988558
10 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 90675320: 90675320
11 ADGRV1 NM_032119.3(ADGRV1): c.5188A> T (p.Ile1730Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 89971137: 89971137
12 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh37 Chromosome 16, 1270816: 1270816
13 CACNA1H NM_021098.2(CACNA1H): c.6884C> T (p.Ser2295Phe) single nucleotide variant Uncertain significance rs772718469 GRCh38 Chromosome 16, 1220816: 1220816
14 SARS NM_006513.3(SARS): c.971T> C (p.Ile324Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 109778600: 109778600
15 SARS NM_006513.3(SARS): c.971T> C (p.Ile324Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109235978: 109235978
16 MAP4K4 NM_001242559.1(MAP4K4): c.1694G> A (p.Arg565Gln) single nucleotide variant Likely pathogenic rs781410462 GRCh38 Chromosome 2, 101859854: 101859854
17 MAP4K4 NM_001242559.1(MAP4K4): c.1694G> A (p.Arg565Gln) single nucleotide variant Likely pathogenic rs781410462 GRCh37 Chromosome 2, 102476316: 102476316
18 IL17RD NM_017563.4(IL17RD): c.676G> A (p.Gly226Ser) single nucleotide variant Likely pathogenic rs577890523 GRCh38 Chromosome 3, 57105928: 57105928
19 IL17RD NM_017563.4(IL17RD): c.676G> A (p.Gly226Ser) single nucleotide variant Likely pathogenic rs577890523 GRCh37 Chromosome 3, 57139956: 57139956
20 ZFYVE16 NM_014733.5(ZFYVE16): c.3442G> T (p.Asp1148Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 80451544: 80451544
21 ZFYVE16 NM_014733.5(ZFYVE16): c.3442G> T (p.Asp1148Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 79747363: 79747363
22 EGFR NM_201284.1(EGFR): c.1891G> T (p.Glu631Ter) single nucleotide variant Likely pathogenic rs909905659 GRCh37 Chromosome 7, 55238010: 55238010
23 EGFR NM_201284.1(EGFR): c.1891G> T (p.Glu631Ter) single nucleotide variant Likely pathogenic rs909905659 GRCh38 Chromosome 7, 55170317: 55170317
24 PREX2 NM_024870.3(PREX2): c.3355G> A (p.Ala1119Thr) single nucleotide variant Likely pathogenic rs778089198 GRCh37 Chromosome 8, 69030813: 69030813
25 PREX2 NM_024870.3(PREX2): c.3355G> A (p.Ala1119Thr) single nucleotide variant Likely pathogenic rs778089198 GRCh38 Chromosome 8, 68118578: 68118578
26 ENG NM_000118.3(ENG): c.920dup (p.Asn307Lysfs) duplication Pathogenic GRCh38 Chromosome 9, 127824871: 127824871
27 ENG NM_000118.3(ENG): c.920dup (p.Asn307Lysfs) duplication Pathogenic GRCh37 Chromosome 9, 130587150: 130587150
28 SCUBE2 NM_001170690.1(SCUBE2): c.1592G> A (p.Cys531Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 9055289: 9055289
29 SCUBE2 NM_001170690.1(SCUBE2): c.1592G> A (p.Cys531Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 9033742: 9033742
30 LEMD3 NM_001167614.1(LEMD3): c.2636C> G (p.Thr879Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 65246228: 65246228
31 LEMD3 NM_001167614.1(LEMD3): c.2636C> G (p.Thr879Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 65640008: 65640008
32 PITPNM3 NM_031220.3(PITPNM3): c.274C> T (p.Arg92Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 6406847: 6406847
33 PITPNM3 NM_031220.3(PITPNM3): c.274C> T (p.Arg92Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 6503527: 6503527
34 CDH2 NM_001792.4(CDH2): c.2075A> G (p.Asn692Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 27985134: 27985134
35 CDH2 NM_001792.4(CDH2): c.2075A> G (p.Asn692Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 25565098: 25565098
36 TIMP3 NM_000362.4(TIMP3): c.311T> C (p.Leu104Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 33253342: 33253342
37 TIMP3 NM_000362.4(TIMP3): c.311T> C (p.Leu104Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 32857355: 32857355
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 12)
# Super pathways Score Top Affiliating Genes
1
Ras signaling pathway 37
Show member pathways
 12.3 KDR KRAS RASA1 THBS1 VEGFA
2
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.06 KDR KRAS RASA1 VEGFA
3
Proteoglycans in cancer 37
11.76 KDR KRAS THBS1 VEGFA
4
EPHA forward signaling 1
Show member pathways
 11.75 KDR RASA1 VEGFA
5
AGE-RAGE signaling pathway in diabetic complications 37
11.65 IL6 KRAS VEGFA
6
TGF-beta Signaling Pathways 65
11.62 ACVRL1 ENG KRAS
7
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.57 KDR RASA1 VEGFA
8
Angiogenesis (CST) 4
11.53 ENG KDR THBS1
9
Bladder cancer 37 1
11.36 KRAS THBS1 VEGFA
10
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.05 IL6 KDR SOX17 VEGFA
11
Vemurafenib Pathway, Pharmacodynamics 61
10.76 KDR KRAS VEGFA
12
VEGF ligand-receptor interactions 66
Show member pathways
 10.7 KDR VEGFA
Sources

GO Terms for Arteriovenous Malformations of the Brain

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 IL6 KDR KRAS PDCD10 THBS1 VEGFA
2 positive regulation of cell migration GO:0030335 9.88 KDR PDCD10 THBS1 VEGFA
3 positive regulation of gene expression GO:0010628 9.85 ENG IL6 KRAS PDCD10 SOX17 VEGFA
4 positive regulation of protein phosphorylation GO:0001934 9.83 ENG KDR KRAS VEGFA
5 negative regulation of gene expression GO:0010629 9.8 ACVRL1 ENG KDR PDCD10 VEGFA
6 negative regulation of apoptotic process GO:0043066 9.8 EPHB4 IL6 KDR PDCD10 RASA1 THBS1
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.77 IL6 PDCD10 VEGFA
8 positive regulation of endothelial cell proliferation GO:0001938 9.76 ACVRL1 KDR VEGFA
9 positive regulation of MAP kinase activity GO:0043406 9.73 KRAS PDCD10 VEGFA
10 positive regulation of endothelial cell migration GO:0010595 9.69 KDR THBS1 VEGFA
11 positive regulation of blood vessel endothelial cell migration GO:0043536 9.67 KDR THBS1 VEGFA
12 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.65 PDCD10 STARD13 THBS1
13 endocardial cushion morphogenesis GO:0003203 9.61 ACVRL1 ENG
14 negative regulation of focal adhesion assembly GO:0051895 9.61 ACVRL1 THBS1
15 positive regulation of positive chemotaxis GO:0050927 9.6 KDR VEGFA
16 dorsal aorta morphogenesis GO:0035912 9.57 ACVRL1 ENG
17 regulation of cGMP metabolic process GO:0030823 9.55 THBS1 VEGFA
18 positive regulation of angiogenesis GO:0045766 9.55 ACVRL1 ENG KDR THBS1 VEGFA
19 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.54 KDR VEGFA
20 cell migration involved in sprouting angiogenesis GO:0002042 9.5 EPHB4 KDR VEGFA
21 endocardial cushion to mesenchymal transition GO:0090500 9.46 ACVRL1 ENG
22 vasculogenesis GO:0001570 9.35 ENG KDR RASA1 SOX17 VEGFA
23 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 9.89 ACVRL1 ENG EPHB4 IL6 KDR KRAS
2 activin binding GO:0048185 9.16 ACVRL1 ENG
3 transforming growth factor beta binding GO:0050431 8.8 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
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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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