MCID: EXT051
MIFTS: 26

Extracranial Arteriovenous Malformation

Categories: Cardiovascular diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Extracranial Arteriovenous Malformation

MalaCards integrated aliases for Extracranial Arteriovenous Malformation:

Name: Extracranial Arteriovenous Malformation 20
Head and Neck Arteriovenous Malformation 20
Head and Neck Avm 20
Extracranial Avm 20

Classifications:



Summaries for Extracranial Arteriovenous Malformation

GARD : 20 Arteriovenous malformations or AVMs are rare vascular malformations (abnormal tangles of blood vessels where direct connections form between arteries and veins) which disrupt natural blood flow. AVMs most commonly affect the central nervous system (brain and spinal cord) but can involve any organ. Those affecting the face, head or neck are often called extracranial arteriovenous malformations (AVMs). Although present at birth, AVMs may not be clinically evident until childhood or adolescence. Complications may include disfigurement, destruction of tissue, obstruction of vital structures, pain, bleeding, ulceration and rarely, cardiac overload. AVMs may be treated with surgery, embolization, or both. The goal of treatment is to control rather than cure the underlying problem.

MalaCards based summary : Extracranial Arteriovenous Malformation, also known as head and neck arteriovenous malformation, is related to arteriovenous malformation and focal myositis. An important gene associated with Extracranial Arteriovenous Malformation is MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1), and among its related pathways/superpathways are Integrin Pathway and Cytokine Signaling in Immune system. Affiliated tissues include spinal cord, heart and tongue, and related phenotype is neoplasm.

Related Diseases for Extracranial Arteriovenous Malformation

Diseases related to Extracranial Arteriovenous Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 30.0 MMP9 MMP2 MAP2K1
2 focal myositis 9.9 MMP9 MMP2
3 spastic entropion 9.9 MMP9 MMP2
4 acute transverse myelitis 9.9 MMP9 MMP2
5 transverse myelitis 9.9 MMP9 MMP2
6 lentigo maligna melanoma 9.9 MMP9 MMP2
7 nasal cavity squamous cell carcinoma 9.9 MMP9 MMP2
8 light chain deposition disease 9.9 MMP9 MMP2
9 senile ectropion 9.9 MMP9 MMP2
10 odontogenic myxoma 9.9 MMP9 MMP2
11 nasal cavity benign neoplasm 9.9 MMP9 MMP2
12 parotitis 9.9 MMP9 MMP2
13 periapical periodontitis 9.9 MMP9 MMP2
14 periodontitis 9.9 MMP9 MMP2
15 conjunctivochalasis 9.9 MMP9 MMP2
16 dental fluorosis 9.9 MMP9 MMP2
17 ischemic colitis 9.9 MMP9 MMP2
18 corneal ulcer 9.9 MMP9 MMP2
19 lung giant cell carcinoma 9.9 MMP9 MMP2
20 diastolic heart failure 9.9 MMP9 MMP2
21 oral submucous fibrosis 9.9 MMP9 MMP2
22 systolic heart failure 9.9 MMP9 MMP2
23 adenomyosis 9.9 MMP9 MMP2
24 supravalvular aortic stenosis 9.9 MMP9 MMP2
25 hypertensive heart disease 9.9 MMP9 MMP2
26 pelvic organ prolapse 9.9 MMP9 MMP2
27 preterm premature rupture of the membranes 9.9 MMP9 MMP2
28 pneumothorax 9.9 MMP9 MMP2
29 pelvic inflammatory disease 9.9 MMP9 MMP2
30 actinic keratosis 9.9 MMP9 MMP2
31 limb ischemia 9.9 MMP9 MMP2
32 oral cancer 9.9 MMP9 MMP2
33 ameloblastoma 9.9 MMP9 MMP2
34 aortic aneurysm, familial thoracic 1 9.9 MMP9 MMP2
35 aortic aneurysm 9.9 MMP9 MMP2
36 varicose veins 9.9 MMP9 MMP2
37 takayasu arteritis 9.9 MMP9 MMP2
38 aggressive periodontitis 9.8 MMP9 MMP2
39 hyperostosis 9.8 MMP9 MMP2
40 tongue disease 9.8 MMP9 MMP2
41 lymphangioleiomyomatosis 9.8 MMP9 MMP2
42 hemangioma 9.8 MMP9 MAP2K1
43 inguinal hernia 9.8 MMP9 MMP2
44 aortic dissection 9.8 MMP9 MMP2
45 refractive error 9.8 MMP9 MMP2
46 aortic aneurysm, familial abdominal, 1 9.8 MMP9 MMP2
47 emery-dreifuss muscular dystrophy 9.8 MMP9 MMP2
48 renal fibrosis 9.8 MMP9 MMP2
49 pseudoxanthoma elasticum 9.8 MMP9 MMP2
50 intrahepatic cholestasis of pregnancy 9.8 MMP9 MMP2

Graphical network of the top 20 diseases related to Extracranial Arteriovenous Malformation:



Diseases related to Extracranial Arteriovenous Malformation

Symptoms & Phenotypes for Extracranial Arteriovenous Malformation

MGI Mouse Phenotypes related to Extracranial Arteriovenous Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 MAP2K1 MMP2 MMP9

Drugs & Therapeutics for Extracranial Arteriovenous Malformation

Search Clinical Trials , NIH Clinical Center for Extracranial Arteriovenous Malformation

Genetic Tests for Extracranial Arteriovenous Malformation

Anatomical Context for Extracranial Arteriovenous Malformation

MalaCards organs/tissues related to Extracranial Arteriovenous Malformation:

40
Spinal Cord, Heart, Tongue, Lung, Skin, Breast

Publications for Extracranial Arteriovenous Malformation

Articles related to Extracranial Arteriovenous Malformation:

(show all 20)
# Title Authors PMID Year
1
Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations. 61
32799314 2020
2
Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism. 61
32157142 2020
3
Efficacy and Tolerance of Sirolimus (Rapamycin) for Extracranial Arteriovenous Malformations in Children and Adults. 61
31386166 2019
4
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. 61
28190454 2017
5
The Coexistence of Extradural Arteriovenous Fistula and Soft Tissue Arteriovenous Malformation Within the Same Metamere. 61
27890761 2017
6
Elevated Expression of Matrix Metalloproteinase-9 not Matrix Metalloproteinase-2 Contributes to Progression of Extracranial Arteriovenous Malformation. 61
27075045 2016
7
Is a swine model of arteriovenous malformation suitable for human extracranial arteriovenous malformation? A preliminary study. 61
23652418 2013
8
Head and neck arteriovenous malformations: results of ethanol sclerotherapy. 61
22766677 2013
9
Anaesthetic management of a child with massive extracranial arteriovenous malformation. 61
22345959 2012
10
A tennis ball and music as a patients solution for pulsatile tinnitus. 61
21954746 2011
11
Arteriovenous malformation of the scalp with cerebral steal. 61
19296527 2009
12
Anesthetic management in an angiographic suite: a retrospective review of 88 cases. 61
30625693 2009
13
Auricular arteriovenous malformation: evaluation, management, and outcome. 61
15793434 2005
14
Arteriovenous malformations of the head and neck: natural history and management. 61
9727427 1998
15
Extracranial arteriovenous malformation diagnosed on color Doppler imaging. 61
9700217 1998
16
Extracranial arteriovenous malformation presenting as objective tinnitus. 61
6491506 1984
17
[Artificial embolization with cyanoacrylate for the treatment of the extracranial arteriovenous malformation]. 61
7177334 1982
18
Massive congenital arteriovenous malformation of the pterygomaxillary space. 61
6806756 1982
19
Progression of a dural arteriovenous malformation resulting in an intracerebral hematoma. A case report. 61
434578 1979
20
Cosmetic excision of an isolated extracranial arteriovenous malformation using Gelfoam embolization. 61
588971 1977

Variations for Extracranial Arteriovenous Malformation

Expression for Extracranial Arteriovenous Malformation

Search GEO for disease gene expression data for Extracranial Arteriovenous Malformation.

Pathways for Extracranial Arteriovenous Malformation

Pathways related to Extracranial Arteriovenous Malformation according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 MMP9 MMP2 MAP2K1
2
Show member pathways
12.92 MMP9 MMP2 MAP2K1
3
Show member pathways
12.63 MMP9 MMP2 MAP2K1
4 12.44 MMP9 MMP2 MAP2K1
5
Show member pathways
12.26 MMP9 MMP2 MAP2K1
6
Show member pathways
11.97 MMP2 MAP2K1
7
Show member pathways
11.92 MMP2 MAP2K1
8 11.89 MMP9 MMP2 MAP2K1
9 11.78 MMP9 MMP2
10 11.76 MMP9 MMP2 MAP2K1
11 11.72 MMP9 MMP2
12 11.68 MMP9 MMP2
13 11.67 MMP9 MAP2K1
14 11.64 MMP9 MMP2 MAP2K1
15
Show member pathways
11.61 MMP9 MMP2
16 11.55 MMP9 MMP2
17 11.5 MMP9 MMP2
18 11.4 MMP9 MMP2
19
Show member pathways
11.38 MMP9 MMP2
20 11.37 MMP9 MMP2
21 11.34 MMP9 MMP2
22 11.23 MMP9 MMP2
23 11.2 MMP9 MMP2 MAP2K1
24
Show member pathways
11.12 MMP9 MMP2 MAP2K1
25 11.09 MMP2 MAP2K1
26 11.04 MMP9 MMP2
27 11 MMP9 MMP2
28 10.95 MMP9 MMP2 MAP2K1
29 10.87 MMP9 MMP2
30 10.79 MMP9 MMP2
31
Show member pathways
10.45 MMP9 MMP2 MAP2K1

GO Terms for Extracranial Arteriovenous Malformation

Biological processes related to Extracranial Arteriovenous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor signaling pathway GO:0048013 9.46 MMP9 MMP2
2 extracellular matrix disassembly GO:0022617 9.43 MMP9 MMP2
3 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.4 MMP9 MMP2
4 collagen catabolic process GO:0030574 9.37 MMP9 MMP2
5 cellular response to reactive oxygen species GO:0034614 9.32 MMP9 MMP2
6 embryo implantation GO:0007566 9.26 MMP9 MMP2
7 endodermal cell differentiation GO:0035987 9.16 MMP9 MMP2
8 response to amyloid-beta GO:1904645 8.96 MMP9 MMP2
9 cellular response to UV-A GO:0071492 8.62 MMP9 MMP2

Molecular functions related to Extracranial Arteriovenous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.26 MMP9 MMP2
2 metallopeptidase activity GO:0008237 9.16 MMP9 MMP2
3 metalloendopeptidase activity GO:0004222 8.96 MMP9 MMP2
4 endopeptidase activity GO:0004175 8.62 MMP9 MMP2

Sources for Extracranial Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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