MCID: ART141
MIFTS: 50

Arteriovenous Malformations of the Brain

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

Aliases & Classifications for Arteriovenous Malformations of the Brain

MalaCards integrated aliases for Arteriovenous Malformations of the Brain:

Name: Arteriovenous Malformations of the Brain 53 12 14
Intracranial Arteriovenous Malformation 12 49 55 69
Cerebral Arteriovenous Malformation 12 55 28
Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Susceptibility to 53 13
Intracranial Arteriovenous Malformations 72 41
Intracranial Hemorrhage in Brain Cerebrovascular Malformations 53
Cerebral Arteriovenous Malformations 53
Arteriovenous Malformations Cerebral 51
Intracranial Avm 49
Bavm 53

Characteristics:

Orphanet epidemiological data:

55
cerebral arteriovenous malformation
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
arteriovenous malformations of the brain:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 108010
Disease Ontology 12 DOID:0060688
ICD10 32 Q28.2
MeSH 41 D002538
Orphanet 55 ORPHA46724
MESH via Orphanet 42 D002538
UMLS via Orphanet 70 C0007772 C0917804
ICD10 via Orphanet 33 Q28.2
MedGen 39 C0917804
SNOMED-CT via HPO 65 263681008 234142008
UMLS 69 C0007772

Summaries for Arteriovenous Malformations of the Brain

NIH Rare Diseases : 49 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. Last updated: 6/18/2012

MalaCards based summary : Arteriovenous Malformations of the Brain, also known as intracranial arteriovenous malformation, is related to arteriovenous malformation and intracranial aneurysm, and has symptoms including abnormality of the cerebral vasculature, visceral angiomatosis and peripheral arteriovenous fistula. An important gene associated with Arteriovenous Malformations of the Brain is IL6 (Interleukin 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. The drugs Doxycycline and Minocycline have been mentioned in the context of this disorder. Affiliated tissues include brain and the brain, and related phenotypes are Increased cell migration and cardiovascular system

Disease Ontology : 12 An arteriovenous malformation that is located in the brain.

Wikipedia : 72 A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM) is an abnormal connection between the... more...

Description from OMIM: 108010

Related Diseases for Arteriovenous Malformations of the Brain

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

Symptoms via clinical synopsis from OMIM:

53
Vascular:
cerebral arteriovenous malformation


Clinical features from OMIM:

108010

Human phenotypes related to Arteriovenous Malformations of the Brain:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0100659
2 visceral angiomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100761
3 peripheral arteriovenous fistula 55 31 hallmark (90%) Very frequent (99-80%) HP:0100784
4 cerebral arteriovenous malformation 31 HP:0002408

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-3 8.8 ACVRL1 KDR KRAS

MGI Mouse Phenotypes related to Arteriovenous Malformations of the Brain:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 SOX17 STARD13 ACVRL1 ENG IL6 KDR
2 hematopoietic system MP:0005397 9.87 ACVRL1 ENG IL6 KDR KRAS SOX17
3 embryo MP:0005380 9.85 ACVRL1 ENG KDR KRAS RBBP8 SOX17
4 mortality/aging MP:0010768 9.81 ACVRL1 CNNM2 ENG IL6 KDR KRAS
5 digestive/alimentary MP:0005381 9.8 KRAS SOX17 ACVRL1 ENG IL6
6 liver/biliary system MP:0005370 9.65 ACVRL1 IL6 KDR KRAS SOX17
7 muscle MP:0005369 9.43 ACVRL1 ENG IL6 KDR KRAS SOX17
8 respiratory system MP:0005388 9.02 ACVRL1 ENG IL6 KDR KRAS

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 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 ONYX Evaluation in the Endovascular Treatment of Cerebral Arteriovenous Malformations (cAVM) Recruiting NCT02180958
4 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Recruiting NCT03209804
5 Treatment of Brain AVMs (TOBAS) Study Recruiting NCT02098252
6 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
7 Treatment of Cerebral Arteriovenous Malformations With SQUID™ Liquid Embolic Agent Active, not recruiting NCT02602990
8 PHIL Evaluation in the Endovascular Treatment of Intracranial Cerebral ArterioVenous Malformation (cAVM) Not yet recruiting NCT03341039
9 Treatment of Cerebral Arteriovenous Malformations With SQUID Liquid Embolic Agent (CHOICE) Not yet recruiting NCT03413852

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 28 IL6 KRAS

Anatomical Context for Arteriovenous Malformations of the Brain

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

38
Brain

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

18
The Brain

Publications for Arteriovenous Malformations of the Brain

Articles related to Arteriovenous Malformations of the Brain:

(show top 50) (show all 126)
# Title Authors Year
1
Management of pregnancy complicated with intracranial arteriovenous malformation. ( 29369471 )
2018
2
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. ( 29298116 )
2018
3
Role of time-resolved-CTA in intracranial arteriovenous malformation evaluation at 128-slice CT in comparison with digital subtraction angiography. ( 29366361 )
2018
4
Arteriovenous Malformations of the Brain. ( 28489992 )
2017
5
Arteriovenous Malformations of the Brain. ( 28767347 )
2017
6
Arteriovenous Malformations of the Brain. ( 28770979 )
2017
7
Multimodal Treatment Strategy for Spetzler-Martin Grade III Arteriovenous Malformations of the Brain. ( 27169498 )
2017
8
Arteriovenous Malformations of the Brain. ( 28767346 )
2017
9
Lower Risk of Intracranial Arteriovenous Malformation Hemorrhage in Patients With Hereditary Hemorrhagic Telangiectasia. ( 27471975 )
2016
10
Arterial aneurysms associated with arteriovenous malformations of the brain: classification, incidence, risk of hemorrhage, and treatment-a systematic review. ( 27644700 )
2016
11
Rapid, spontaneous obliteration of intracranial arteriovenous malformation. ( 27473023 )
2016
12
Comparing monomodality treatments of low-grade intracranial arteriovenous malformation at Hospital Kuala Lumpur between 2008 and 2011: A retrospective study. ( 26889274 )
2016
13
In Reply: Lower Risk of Intracranial Arteriovenous Malformation Hemorrhage in Patients With Hereditary Hemorrhagic Telangiectasia. ( 27580480 )
2016
14
Images in clinical medicine. Intracranial arteriovenous malformation. ( 25587971 )
2015
15
Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain. ( 25053769 )
2015
16
Fenestration of the supraclinoid internal carotid artery in a patient with a concomitant intracranial arteriovenous malformation. ( 25948856 )
2015
17
Lower Risk of Intracranial Arteriovenous Malformation Hemorrhage in Patients With Hereditary Hemorrhagic Telangiectasia. ( 26540357 )
2015
18
The predictive value of magnetic resonance imaging in evaluating intracranial arteriovenous malformation obliteration after stereotactic radiosurgery. ( 25839923 )
2015
19
Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. ( 25787706 )
2015
20
Effect of prior hemorrhage on intracranial arteriovenous malformation radiosurgery outcomes. ( 25547253 )
2015
21
Advances in radiosurgery for arteriovenous malformations of the brain. ( 24402493 )
2014
22
Klippel-trAcnaunay syndrome with intracranial arteriovenous malformation: a rare presentation. ( 24653849 )
2014
23
Intracranial Arteriovenous Malformation in a College Football Player and Return-to-Play Considerations. ( 24389627 )
2014
24
Surgery for unruptured arteriovenous malformations of the brain is better than conservative management for selected cases: a prospective cohort study. ( 25105704 )
2014
25
A multicenter retrospective study of frameless robotic radiosurgery for intracranial arteriovenous malformation. ( 25414830 )
2014
26
Stereotactic linac radiosurgery and hypofractionated stereotactic radiotherapy for pediatric arteriovenous malformations of the brain: experiences of a single institution. ( 23224360 )
2013
27
Endovascular management of arteriovenous malformations of the brain. ( 25187772 )
2013
28
Orbital venous congestion: Rare manifestation of an intracranial arteriovenous malformation. ( 24128772 )
2013
29
Aortic runoff as a sign of intracranial arteriovenous malformation: report of two cases. ( 23724190 )
2013
30
Late clinical and radiological complications of stereotactical radiosurgery of arteriovenous malformations of the brain. ( 23183855 )
2013
31
Retained microcatheter after onyx embolization of intracranial arteriovenous malformation. ( 22949969 )
2012
32
Postradiosurgery hemorrhage rates of arteriovenous malformations of the brain: influencing factors and evolution with time. ( 22363059 )
2012
33
Use of the Outreach Distal Access Catheter for microcatheter stabilization during intracranial arteriovenous malformation embolization. ( 21757517 )
2012
34
Noncontrast dynamic MRA in intracranial arteriovenous malformation (AVM), comparison with time of flight (TOF) and digital subtraction angiography (DSA). ( 22521994 )
2012
35
Towards treatment planning for the embolization of arteriovenous malformations of the brain: intranidal hemodynamics modeling. ( 21349788 )
2011
36
A neonate with high-outflow congestive heart failure and pulmonary hypertension due to an intracranial arteriovenous malformation. ( 21730802 )
2011
37
Natural course of the arteriovenous malformations of the brain initially presented by hemorrhage: analysis of a clinical series of 39 patients. ( 21845562 )
2011
38
Images in vascular medicine: Huge intracranial arteriovenous malformation. ( 20488835 )
2010
39
Multi-modality treatment for intracranial arteriovenous malformation associated with arterial aneurysm. ( 19763213 )
2009
40
Endovascular treatment of intracranial arteriovenous malformation. ( 19853800 )
2009
41
Arteriovenous malformations of the brain: lessons to learn. ( 18239160 )
2008
42
Arteriovenous malformation of the brain mimicking primary central nervous system vasculitis. ( 18830901 )
2008
43
Intracranial arteriovenous malformation: time-resolved contrast-enhanced MR angiography with combination of parallel imaging, keyhole acquisition, and k-space sampling techniques at 1.5 T. ( 18195381 )
2008
44
Intracranial arteriovenous malformation with maternal carbamazepine use. ( 17264463 )
2007
45
Arteriovenous malformations of the brain. ( 17960021 )
2007
46
Evaluation of an Intracranial Arteriovenous Malformation by Multi-Detector CT Angiography. A Case Report. ( 24299670 )
2007
47
Clinical practice. Arteriovenous malformations of the brain. ( 17596605 )
2007
48
Symptomatic superficial siderosis due to an intracranial arteriovenous malformation. ( 17803045 )
2007
49
Case report: alterations in bispectral index following absolute alcohol embolization in a patient with intracranial arteriovenous malformation. ( 17975236 )
2007
50
Stereotactic irradiation for intracranial arteriovenous malformation using stereotactic radiosurgery or hypofractionated stereotactic radiotherapy. ( 15465204 )
2004

Variations for Arteriovenous Malformations of the Brain

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:

# Super pathways Score Top Affiliating Genes
1 11.26 IL6 KDR SOX17
2 11.05 KDR SOX17
3 10.94 KDR RBBP8
4 10.78 KDR KRAS
5 10.78 ACVRL1 ENG KRAS

GO Terms for Arteriovenous Malformations of the Brain

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.63 ACVRL1 ENG KDR
2 positive regulation of gene expression GO:0010628 9.62 ENG IL6 KRAS SOX17
3 positive regulation of protein phosphorylation GO:0001934 9.61 ENG KDR KRAS
4 positive regulation of angiogenesis GO:0045766 9.58 ACVRL1 ENG KDR
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.49 ACVRL1 ENG
6 positive regulation of BMP signaling pathway GO:0030513 9.48 ACVRL1 ENG
7 endocardial cushion morphogenesis GO:0003203 9.37 ACVRL1 ENG
8 vasculogenesis GO:0001570 9.33 ENG KDR SOX17
9 dorsal aorta morphogenesis GO:0035912 9.26 ACVRL1 ENG
10 angiogenesis GO:0001525 9.26 ACVRL1 ENG KDR SOX17
11 endocardial cushion to mesenchymal transition GO:0090500 8.62 ACVRL1 ENG

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 ACVRL1 ENG
2 activin binding GO:0048185 8.62 ACVRL1 ENG

Sources for Arteriovenous Malformations of the Brain

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....