MCID: ABD003
MIFTS: 65

Abdominal Aortic Aneurysm malady

Cardiovascular, Genetic categories

Summaries for Abdominal Aortic Aneurysm

Sources:
43NIH Rare Diseases, 3CDC, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Abdominal aortic aneurysm occurs when the large blood vessel that supplies blood to the abdomen, pelvis, and legs becomes abnormally large or balloons outward. aneurysms develop slowly over many years and often have no symptoms. if an aneurysm expands rapidly, tears open (ruptured aneurysm), or blood leaks along the wall of the vessel (aortic dissection), symptoms may develop suddenly. symptoms may include abdominal pain or rigidity, nausea, vomiting, rapid heart rate, and/or clammy skin. the exact cause of abdominal aortic aneurysms is unknown, but they are most often seen in males over 60 who have one or more of the following risk factors: emphysema, high blood pressure, high cholesterol, obesity, or a history of smoking. genetics may also play a role. if the aneurysm is small and there are no symptoms, periodic evaluation may be recommended. aneurysms that cause symptoms usually require surgery to prevent complications. the goal of surgery is to prevent complications or symptoms from developing. last updated: 1/16/2009

MalaCards: Abdominal Aortic Aneurysm, also known as aortic aneurysm, familial abdominal 1, is related to ruptured abdominal aortic aneurysm and aneurysm disease. An important gene associated with Abdominal Aortic Aneurysm is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Cell adhesion ECM remodeling. The compounds retinoic acid and cysteine have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and kidney, and related mouse phenotypes are immune system and homeostasis/metabolism.

CDC:3 An aortic aneurysm is a balloon-like bulge in the aorta, the large artery that carries blood from the heart through the chest and torso.

Wikipedia:64 Abdominal aortic aneurysm (also known as AAA, pronounced \"triple-a\") is a localized dilatation... more...

Description from OMIM:47 611891,100070,614375,609782

Aliases & Classifications for Abdominal Aortic Aneurysm

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular


Aliases & Descriptions:

abdominal aortic aneurysm 8 43 10
aortic aneurysm, familial abdominal 1 8 9 47
aortic aneurysm, familial abdominal 47
familial abdominal aortic aneurysm 49
aortic aneurysm, abdominal 61
aneurysm, abdominal aortic 43
aortic aneurysm abdominal 45


External Ids:

Disease Ontology8 DOID:7693
MeSH35 D017544
NCIt40 C27000
ICD10 via Orphanet26 I71.4
ICD1025 I71.4

Related Diseases for Abdominal Aortic Aneurysm

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Abdominal Aortic Aneurysm family:

aortic aneurysm, familial abdominal 2 aortic aneurysm, familial abdominal, 4

Diseases related to Abdominal Aortic Aneurysm via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 222)
idRelated DiseaseScoreTop Affiliating Genes
1ruptured abdominal aortic aneurysm32.2AAAS
2aneurysm disease31.5ELN, ELANE, MMP9, MMP12, MMP2, MMP3
3thoracic aortic aneurysm30.9MMP2, ELN
4pulmonary disease, chronic obstructive30.7XDH, IL6, MMP12, MMP9, ELANE, ELN
5vascular disease30.7ELN, ELANE, MMP9, F3, XDH
6marfan syndrome30.6ELN, COL3A1
7atherosclerosis30.4TNFSF12, XDH, IL6, F3, ELN, ELANE
8coronary artery disease,30.4COL3A1, IL6, F3, MMP13, MMP3, MMP12
9colorectal cancer30.4XDH, MMP13, MMP2, MMP12, MMP9
10intracranial aneurysm30.4COL3A1, ELANE, ELN
11hyperhomocysteinemia30.4ELN, F2
12arteriosclerosis30.4ELN
13sepsis30.2ELANE, F2, F3, IL6, XDH
14bladder carcinoma30.2XDH, MMP13, MMP2, MMP12, MMP9
15acute myocardial infarction30.2XDH, F3, MMP9
16acute pancreatitis30.2IL6, ELANE
17antiphospholipid syndrome30.2F3, F2
18aortic aneurysm11.7
19aortic disease11.0
20horseshoe kidney11.0
21spinal cord ischemia10.6
22chylous ascites10.6
23coronary aneurysm10.6
24superior mesenteric artery syndrome10.6
25retroperitoneal fibrosis10.5
26peripheral vascular disease10.5
27cardiac rupture10.5
28coronary artery aneurysm10.5
29aortitis10.4
30ureteral obstruction10.4
31aortic aneurysm, familial abdominal 210.4
32aortic aneurysm, familial abdominal, 410.4
33carotid stenosis10.3
34discitis10.3
35renovascular hypertension10.3
36epidural abscess10.3
37intermittent claudication10.3
38situs inversus10.3
39polycystic kidney disease10.3
40femoral neuropathy10.3
41aortic atherosclerosis10.3
42angiosarcoma10.3
43spondylitis10.3
44ehlers–danlos syndrome10.3
45hemophilia10.3
46aortic coarctation10.3
47autoimmune pancreatitis10.3
48double inferior vena cava10.3
49back pain10.3
50pulmonary function10.3

Graphical network of the top 20 diseases related to Abdominal Aortic Aneurysm:



Diseases related to abdominal aortic aneurysm

Clinical Features for Abdominal Aortic Aneurysm

Sources:
47OMIM
See all sources

Clinical features from OMIM:

611891,100070,614375,609782

Clinical synopsis from OMIM:

100070

Drugs & Therapeutics for Abdominal Aortic Aneurysm

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Abdominal Aortic Aneurysm

Drug clinical trials:

Search ClinicalTrials for Abdominal Aortic Aneurysm

Search NIH Clinical Center for Abdominal Aortic Aneurysm

Search CenterWatch for Abdominal Aortic Aneurysm

Genetic Tests for Abdominal Aortic Aneurysm

Anatomical Context for Abdominal Aortic Aneurysm

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Abdominal Aortic Aneurysm:

33
Skin, Spinal cord, Kidney, Lung, Whole blood, Heart, Smooth muscle, Small intestine, Colon, Monocytes, T cells, B cells, Endothelial, Pituitary

Animal Models for Abdominal Aortic Aneurysm or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Abdominal Aortic Aneurysm

Sources:
51PubMed
See all sources

Articles related to Abdominal Aortic Aneurysm:

(show top 50)    (show all 1498)
idTitleAuthorsYear
1
Efficacy of contrast-enhanced ultrasonography in detecting graft rupture sites after abdominal aortic aneurysm repair. (24218495)
2014
2
Vacuum and mesh-mediated fascial traction for closure of the open abdomen after abdominal aortic aneurysm repair. (23528244)
2013
3
B-type natriuretic peptide predicts postoperative cardiac events and mortality after elective open abdominal aortic aneurysm repair. (23058722)
2013
4
Percutaneous endovascular abdominal aortic aneurysm repair within the infrarenal region. Preliminary report. (24310758)
2013
5
ACP Journal Club. Screening for abdominal aortic aneurysm (AAA) in older men reduced AAA mortality at 13 years. (23856697)
2013
6
Exome sequencing reveals new insights into the progression of abdominal aortic aneurysm. (24065236)
2013
7
Aortic dissection occurring 18 months after successful endovascular repair in an anatomically difficult case of abdominal aortic aneurysm. (24303225)
2013
8
The importance of patient-specific regionally varying wall thickness in abdominal aortic aneurysm biomechanics. (23722475)
2013
9
Genetics of abdominal aortic aneurysm. (23478885)
2013
10
Late diagnosis of abdominal aortic aneurysms substantiates underutilization of abdominal aortic aneurysm screening for Medicare beneficiaries. (23414696)
2013
11
Construct domain analysis of patient health-related quality of life: physical and mental trajectory profiles following open versus endovascular repair of abdominal aortic aneurysm. (23300352)
2013
12
Preoperative risk factors for in-hospital mortality and validity of the Glasgow aneurysm score and Hardman index in patients with ruptured abdominal aortic aneurysm. (22393179)
2012
13
Endovascular treatment of a chronic contained ruptured abdominal aortic aneurysm. (23175929)
2012
14
Ruptured abdominal aortic aneurysm: the state of play. (23181137)
2012
15
Balanced mineralization in the arterial system: possible role of osteoclastogenesis/osteoblastogenesis in abdominal aortic aneurysm and stenotic disease. (23117745)
2012
16
Acute abdominal aortic aneurysm: significant regional differences across Norway. (22818803)
2012
17
Trends in the utilization of endovascular therapy for elective and ruptured abdominal aortic aneurysm procedures in Canada. (23069074)
2012
18
Differential expression of sphingosine-1-phosphate receptors in abdominal aortic aneurysms. (22547907)
2012
19
Ruptured abdominal aortic aneurysm presenting as painless testicular ecchymosis: the scrotal sign of Bryant revisited. (18614326)
2011
20
Follow-up of FDG-PET/CT findings in retroperitoneal fibrosis associated with abdominal aortic aneurysm. (21611677)
2011
21
Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm. (19818961)
2010
22
In patients with ruptured abdominal aortic aneurysm does endovascular repair improve 30-day mortality? (20093264)
2010
23
A systematic review of studies examining inflammation associated cytokines in human abdominal aortic aneurysm samples. (19729799)
2009
24
Endovascular repair of infrarenal abdominal aortic aneurysm associated with a horseshoe kidney and graft thrombosis in early follow-up. (19452338)
2009
25
Biomarkers of abdominal aortic aneurysm progression. Part 2: inflammation. (19546866)
2009
26
Abdominal compartment syndrome after surgery of abdominal aortic aneurysm. (20476687)
2009
27
The soluble forms of CD28, CD86 and CTLA-4 constitute possible immunological markers in patients with abdominal aortic aneurysm. (17391115)
2007
28
Tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphisms in a Caucasian population with abdominal aortic aneurysm. (17899257)
2007
29
Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm. (15698546)
2004
30
Accuracy of abdominal examination in the diagnosis of non-ruptured abdominal aortic aneurysm. (15041011)
2004
31
Differential expression of integrin alpha5beta1 in human abdominal aortic aneurysm and healthy aortic tissues and its significance in pathogenesis. (15100006)
2004
32
Aortitis and bilateral ureteral obstruction after endovascular repair of abdominal aortic aneurysm. (15192579)
2004
33
The role of cytokine gene polymorphisms in the pathogenesis of abdominal aortic aneurysms: a case-control study. (12756345)
2003
34
Endoleak after endovascular repair of ruptured abdominal aortic aneurysm: is it a problem? (14533965)
2003
35
Immunohistochemical expression of metalloproteinases MMP-2 and MMP-9 in abdominal aortic aneurysms: correlation with symptoms and aortic diameter. (14612975)
2003
36
High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm. (10957660)
2000
37
The plasma level of matrix metalloproteinase 9 may predict the natural history of small abdominal aortic aneurysms. A preliminary study. (10986027)
2000
38
MMP inhibition in abdominal aortic aneurysms. Rationale for a prospective randomized clinical trial. (10415728)
1999
39
Computed tomography for ruptured abdominal aortic aneurysm? (8606736)
1996
40
Increased turnover of collagen in abdominal aortic aneurysms, demonstrated by measuring the concentration of the aminoterminal propeptide of type III procollagen in peripheral and aortal blood samples. (7637115)
1995
41
Relaparotomies after ruptured abdominal aortic aneurysm repair. (8013686)
1994
42
Surgical approach to combined abdominal aortic aneurysm and renal artery stenosis. (1293547)
1992
43
Rationale for molecular approaches to the etiology of abdominal aortic aneurysm disease. (1578569)
1992
44
Ruptured abdominal aortic aneurysm. (1990175)
1991
45
Familial abdominal aortic aneurysms. (3418662)
1988
46
Ischemic colitis following repair of ruptured abdominal aortic aneurysm. (4062543)
1985
47
Ruptured abdominal aortic aneurysm identified incidental to bone scintigraphy. (6230233)
1983
48
Ruptured abdominal aortic aneurysm manifesting as symptomatic inguinal hernia. (7258839)
1981
49
Abdominal aortic aneurysm with rupture into inferior vena cava associated with horseshoe kidney. (637592)
1978
50
Abdominal aortic aneurysm and the horseshoe kidney. (1065771)
1976

Genetic Variations for Abdominal Aortic Aneurysm

Expression for genes affiliated with Abdominal Aortic Aneurysm

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Abdominal Aortic Aneurysm

Search GEO for disease gene expression data for Abdominal Aortic Aneurysm.

Pathways for genes affiliated with Abdominal Aortic Aneurysm

Sources:
54Reactome, 52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.1COL3A1, F3, MMP13, MMP3, MMP2, MMP12
2
Cell adhesion ECM remodeling
Hide members
11.0ELN, COL3A1, MMP13, MMP3, MMP2, MMP12
3
Hide members
11.0COL3A1, MMP13, MMP3, MMP2, MMP12, MMP9
4
Hide members
10.9IL6, MMP13, MMP3, MMP2, MMP12, MMP9
5
Hide members
10.9MMP12, MMP2, MMP3, MMP13, COL3A1
6
Hide members
10.8MMP13, MMP3, MMP2, MMP12, MMP9
7
Cell adhesion Cell-matrix glycoconjugates
Hide members
10.8MMP3, MMP9, ELANE, ELN
810.8ELANE, MMP9, MMP2, IL6
910.8IL6, MMP3, MMP9, ELANE
1010.8MMP9, MMP12, MMP2, IL6
1110.7F2, IL6, XDH
1210.7MMP9, MMP2, IL6
1310.7IL6, MMP2, MMP9
1410.7MMP13, MMP2, MMP9
15
Hide members
10.7MMP2, MMP3, MMP13
16
Hide members
10.6ELN, ELANE
17
Hide members
10.6ELANE, MMP9

Compounds for genes affiliated with Abdominal Aortic Aneurysm

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1retinoic acid45 2412.5IL6, F3, ELN, HELLS, MMP9, MMP3
2cysteine4511.5ELANE, MMP2, MMP3, MMP13, F3, XDH
3hyaluronic acid45 2412.5ELANE, ELN, IL6, MMP13, MMP2, MMP3
4n acetylcysteine4511.5ELN, F2, MMP9, MMP12, MMP2, IL6
5fibrinogen4511.5IL6, F3, MMP13, MMP12, MMP9, F2
6lactate4511.5ELANE, IL6, ELN, F2, MMP2, MMP3
7vegf4511.4MMP2, MMP3, MMP12, MMP9, MMP13, IL6
8alanine4511.4ELN, HELLS, MMP2, MMP3, F2, F3
9genistein45 29 60 2 11 2416.4MMP9, MMP2, IL6, MMP13, MMP3, ELN
10batimastat45 60 1113.4MMP3, MMP13, MMP2, MMP9, ELANE, MMP12
11doxycycline45 1112.4MMP9, MMP2, MMP3, MMP13, ELN, ELANE
12creatinine4511.4MMP9, F3, MMP3, MMP2, IL6, F2
13tgf beta14511.3MMP9, IL6, MMP13, MMP3, ELN, MMP2
14serine4511.3MMP3, MMP2, MMP12, MMP13, HELLS, MMP9
15ribonucleic acid4511.3MMP2, MMP3, MMP13, HELLS, COL3A1, MMP9
16gi 254023x6011.3MMP3, MMP13, MMP12, MMP9, MMP2
17uk 3833676011.3MMP3, MMP2, MMP12, MMP9, MMP13
18gm 60016011.3MMP9, MMP12, MMP2, MMP3, MMP13
19hydroxamate4511.3MMP9, MMP12, MMP2, MMP3, MMP13
20marimastat45 60 1113.3MMP9, MMP12, MMP2, MMP3, MMP13
21sb 20358045 6012.3MMP9, MMP2, MMP3, MMP13, IL6, F3
22pdtc4511.3F3, XDH, MMP2, IL6, MMP9
23sp 60012545 6012.2MMP13, F3, IL6, MMP9, MMP2
24aprotinin45 1112.2F3, MMP13, MMP2, ELANE
25ilomastat4511.2MMP3, MMP2, ELANE, MMP9
26gabexate mesilate4511.2XDH, IL6, MMP9, ELANE
27thermolysin4511.2MMP13, MMP3, ELANE, ELN
28(4-aminophenyl)mercuric acetate4511.2MMP13, ELANE, MMP3
29simvastatin45 50 60 29 11 2416.1F3, MMP3, MMP9, F2, IL6
308-isoprostane4511.1IL6, MMP9, MMP2, XDH
31alginate4511.1ELN, MMP13, ELANE
32silymarin4511.1MMP2, XDH, F2, MMP9
33pge24511.1PLA2G10, MMP9, MMP2
34protamine4511.1IL6, F3, F2, ELANE
35epinephrine45 11 2413.1F3, ELANE, F2
36curcumin4511.0IL6, MMP3, MMP2, MMP9, MMP13
37dermatan sulfate4511.0F3, ELANE, ELN, F2
38gelfoam4511.0ELN, MMP9, MMP2
393,4-dichloroisocoumarin45 1112.0F3, ELANE, MMP9
40egcg4511.0ELANE
41hydroxyproline45 11 2413.0MMP13, MMP2, ELN, MMP9
42latanoprost45 1111.9MMP3, MMP2, MMP9
43cilomilast4510.9MMP2, ELANE, MMP9
44cycloheximide4510.9ELN
45pentoxifylline45 1111.8ELANE, MMP2, IL6, F3
46ibuprofen45 29 50 11 2414.8F3, MMP2, IL6, MMP3
47ivig4510.7ELN
48estrogen4510.6ELN
49coumarins4510.6F3, F2, XDH
50tannins4510.4XDH, ELANE, ELN

GO Terms for genes affiliated with Abdominal Aortic Aneurysm

Sources:
16Gene Ontology
See all sources

Cellular components related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557611.3ELN, COL3A1, XDH, IL6, MMP13, MMP3
2proteinaceous extracellular matrixGO:00557810.9MMP3, MMP2, MMP12, MMP9, ELN, MMP13
3extracellular spaceGO:00561510.9COL3A1, TNFSF12, IL6, F3, MMP13, MMP3

Biological processes related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:03057411.1ELANE, COL3A1, MMP13, MMP3, MMP2, MMP12
2extracellular matrix organizationGO:03019811.1COL3A1, MMP13, MMP3, MMP2, MMP12, MMP9
3extracellular matrix disassemblyGO:02261711.1COL3A1, MMP13, MMP3, MMP2, MMP12, MMP9
4proteolysisGO:00650810.9MMP13, MMP3, MMP2, MMP12, MMP9, F2
5negative regulation of chemokine biosynthetic processGO:04507910.6ELANE, IL6
6cellular response to amino acid stimulusGO:07123010.4MMP2, MMP3, COL3A1

Molecular functions related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00422210.8MMP9, MMP12, MMP2, MMP3, MMP13

Products for genes affiliated with Abdominal Aortic Aneurysm

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Abdominal Aortic Aneurysm

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet