MCID: EXT051
MIFTS: 28

Extracranial Arteriovenous Malformation

Categories: Rare diseases

Aliases & Classifications for Extracranial Arteriovenous Malformation

MalaCards integrated aliases for Extracranial Arteriovenous Malformation:

Name: Extracranial Arteriovenous Malformation 53
Head and Neck Arteriovenous Malformation 53
Head and Neck Avm 53
Extracranial Avm 53

Classifications:



Summaries for Extracranial Arteriovenous Malformation

NIH Rare Diseases : 53 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 Developmental Biology and Integrin Pathway. Affiliated tissues include spinal cord and brain, and related phenotypes are neoplasm and vision/eye

Related Diseases for Extracranial Arteriovenous Malformation

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 10.4
2 focal myositis 9.9 MMP2 MMP9
3 spastic entropion 9.9 MMP2 MMP9
4 lentigo maligna melanoma 9.9 MMP2 MMP9
5 villous adenocarcinoma 9.9 MMP2 MMP9
6 psammomatous meningioma 9.9 MMP2 MMP9
7 acute transverse myelitis 9.9 MMP2 MMP9
8 senile ectropion 9.9 MMP2 MMP9
9 internal hemorrhoid 9.9 MMP2 MMP9
10 ischemic colitis 9.8 MMP2 MMP9
11 parotitis 9.8 MMP2 MMP9
12 light chain deposition disease 9.8 MMP2 MMP9
13 conjunctival nevus 9.8 MMP2 MMP9
14 klatskin's tumor 9.8 MMP2 MMP9
15 microcystic meningioma 9.8 MMP2 MMP9
16 adenomyosis 9.8 MMP2 MMP9
17 corneal ulcer 9.8 MMP2 MMP9
18 nasal cavity squamous cell carcinoma 9.8 MMP2 MMP9
19 odontogenic myxoma 9.8 MMP2 MMP9
20 transverse myelitis 9.8 MMP2 MMP9
21 sorsby fundus dystrophy 9.8 MMP2 MMP9
22 lung giant cell carcinoma 9.8 MMP2 MMP9
23 hypertensive heart disease 9.8 MMP2 MMP9
24 aortic aneurysm, familial thoracic 1 9.8 MMP2 MMP9
25 tongue cancer 9.8 MMP2 MMP9
26 pneumothorax 9.8 MMP2 MMP9
27 salivary gland cancer 9.8 MMP2 MMP9
28 aortic disease 9.8 MMP2 MMP9
29 grade iii astrocytoma 9.8 MMP2 MMP9
30 varicose veins 9.7 MMP2 MMP9
31 inguinal hernia 9.7 MMP2 MMP9
32 oral cancer 9.7 MMP2 MMP9
33 female reproductive organ cancer 9.7 MMP2 MMP9
34 aortic aneurysm, familial abdominal, 1 9.7 MMP2 MMP9
35 respiratory system cancer 9.7 MMP2 MMP9
36 gliosarcoma 9.7 MMP2 MMP9
37 cell type cancer 9.7 MMP2 MMP9
38 periodontitis 9.6 MMP2 MMP9
39 gastrointestinal system cancer 9.6 MMP2 MMP9
40 tongue squamous cell carcinoma 9.6 MMP2 MMP9
41 periodontal disease 9.6 MMP2 MMP9
42 fibrosarcoma 9.6 MMP2 MMP9
43 fundus dystrophy 9.5 MMP2 MMP9
44 keratoconus 9.4 MMP2 MMP9
45 adamantinoma of long bones 9.3 MMP2 MMP9
46 skin melanoma 9.1 MAP2K1 MMP2 MMP9
47 lung cancer susceptibility 3 9.1 MAP2K1 MMP2 MMP9
48 squamous cell carcinoma, head and neck 9.0 MMP2 MMP9
49 hepatocellular carcinoma 8.8 MAP2K1 MMP2 MMP9
50 prostate cancer 8.5 MAP2K1 MMP2 MMP9

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 9.13 MAP2K1 MMP2 MMP9
2 vision/eye MP:0005391 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:

41
Spinal Cord, Brain

Publications for Extracranial Arteriovenous Malformation

Articles related to Extracranial Arteriovenous Malformation:

# Title Authors Year
1
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. ( 28190454 )
2017
2
Elevated Expression of Matrix Metalloproteinase-9 not Matrix Metalloproteinase-2 Contributes to Progression of Extracranial Arteriovenous Malformation. ( 27075045 )
2016
3
Absolute Ethanol Embolization of Infiltrating-diffuse Extracranial Arteriovenous Malformations in the Head and Neck. ( 25892320 )
2015
4
Is a swine model of arteriovenous malformation suitable for human extracranial arteriovenous malformation? A preliminary study. ( 23652418 )
2013
5
Anaesthetic management of a child with massive extracranial arteriovenous malformation. ( 22345959 )
2012
6
Usefulness of contrast-enhanced three-dimensional MR angiography using time-resolved imaging of contrast kinetics applied to description of Extracranial Arteriovenous Malformations: initial experience. ( 21474262 )
2012
7
Extracranial arteriovenous malformations: natural progression and recurrence after treatment. ( 20335868 )
2010
8
Extracranial arteriovenous malformation diagnosed on color Doppler imaging. ( 9700217 )
1998
9
Extracranial arteriovenous malformation presenting as objective tinnitus. ( 6491506 )
1984
10
Cosmetic excision of an isolated extracranial arteriovenous malformation using Gelfoam embolization. ( 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
13.04 MAP2K1 MMP2 MMP9
2
Show member pathways
12.96 MAP2K1 MMP2 MMP9
3
Show member pathways
12.93 MAP2K1 MMP2 MMP9
4
Show member pathways
12.64 MAP2K1 MMP2 MMP9
5 12.43 MAP2K1 MMP2 MMP9
6
Show member pathways
12.36 MAP2K1 MMP2 MMP9
7
Show member pathways
12.15 MAP2K1 MMP2 MMP9
8
Show member pathways
12.03 MAP2K1 MMP2 MMP9
9
Show member pathways
11.8 MAP2K1 MMP2
10 11.8 MAP2K1 MMP2 MMP9
11 11.78 MMP2 MMP9
12 11.72 MMP2 MMP9
13 11.68 MMP2 MMP9
14 11.65 MAP2K1 MMP9
15 11.65 MAP2K1 MMP2 MMP9
16
Show member pathways
11.61 MMP2 MMP9
17 11.55 MMP2 MMP9
18 11.5 MMP2 MMP9
19 11.4 MMP2 MMP9
20 11.38 MMP2 MMP9
21
Show member pathways
11.37 MMP2 MMP9
22 11.34 MMP2 MMP9
23 11.23 MMP2 MMP9
24 11.2 MAP2K1 MMP2 MMP9
25 11.09 MAP2K1 MMP2
26 11.03 MMP2 MMP9
27 10.98 MMP2 MMP9
28 10.95 MAP2K1 MMP2 MMP9
29 10.87 MMP2 MMP9
30 10.77 MMP2 MMP9
31
Show member pathways
10.45 MAP2K1 MMP2 MMP9

GO Terms for Extracranial Arteriovenous Malformation

Cellular components related to Extracranial Arteriovenous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 MMP2 MMP9

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 9.37 MMP2 MMP9
2 extracellular matrix disassembly GO:0022617 9.32 MMP2 MMP9
3 collagen catabolic process GO:0030574 9.26 MMP2 MMP9
4 embryo implantation GO:0007566 9.16 MMP2 MMP9
5 positive regulation of vascular smooth muscle cell proliferation GO:1904707 8.96 MMP2 MMP9
6 endodermal cell differentiation GO:0035987 8.62 MMP2 MMP9

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 9.16 MMP2 MMP9
2 metallopeptidase activity GO:0008237 8.96 MMP2 MMP9
3 metalloendopeptidase activity GO:0004222 8.62 MMP2 MMP9

Sources for Extracranial Arteriovenous Malformation

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
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