MCID: ABD003
MIFTS: 58

Abdominal Aortic Aneurysm malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Abdominal Aortic Aneurysm

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NIH Rare Diseases:41 Abdominal aortic aneurysms (aaas) are aneurysms that occur in the part of the aorta that passes through the abdomen. they may occur at any age, but are most common in men between 50 and 80 years of age. many people with an aaa have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. if the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. about 20% of aaas eventually rupture and are often fatal. the condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. when more than one family member is affected, it may be considered "familial abdominal aortic aneurysm." treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm. last updated: 2/25/2014

MalaCards based summary: Abdominal Aortic Aneurysm, also known as aortic aneurysm, familial abdominal 1, is related to aneurysm and factor vii deficiency, and has symptoms including abdominal aortic aneurysm An important gene associated with Abdominal Aortic Aneurysm is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Selected targets of C EBPalpha and Validated transcriptional targets of AP1 family members Fra1 and Fra2. The compounds mnpt and aprosulate have been mentioned in the context of this disorder. Affiliated tissues include the abdominal aorta, kidney and heart, and related mouse phenotypes are digestive/alimentary and respiratory system.

Disease Ontology:9 An aortic aneurysm that is located in the abdominal aorta.

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.

OMIM:45 Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The... (100070) more...

Wikipedia:63 Abdominal aortic aneurysm (AAA), also known as a triple-a, is a localized enlargement of the abdominal... more...

Aliases & Classifications for Abdominal Aortic Aneurysm

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 3CDC, 10diseasecard, 47Orphanet, 43Novoseek, 45OMIM, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Abdominal Aortic Aneurysm, Aliases & Descriptions:

Name: Abdominal Aortic Aneurysm 9 41 11 3
Aortic Aneurysm, Familial Abdominal 1 9 10
Familial Abdominal Aortic Aneurysm 41 47
Aortic Aneurysm, Familial Abdominal 45
 
Aortic Aneurysm, Abdominal 60
Aneurysm, Abdominal Aortic 41
Aortic Aneurysm Abdominal 43


Classifications:

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


External Ids:

Disease Ontology9 DOID:7693
MeSH33 D017544
NCIt38 C27000
Orphanet47 86
ICD10 via Orphanet26 I71.4
OMIM45 100070
ICD1025 I71.4

Related Diseases for Abdominal Aortic Aneurysm

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Diseases in the Abdominal Aortic Aneurysm family:

Aortic Aneurysm, Familial Abdominal, 4

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

(show top 50)    (show all 181)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm32.3MMP9, ELN, COL3A1, ELANE, MMP8
2factor vii deficiency31.1F2, F3
3disseminated intravascular coagulation31.0F2, F3, ELANE
4vascular disease30.9IL6, ELN, F3, XDH, ELANE
5hemophilia a30.9F3, F2
6hemophilia b30.8F3, F2
7ehlers-danlos syndrome30.8COL3A1, ELN
8coronary artery disease30.8XDH, IL6, MMP8
9pneumonia30.8XDH, MMP8, ELANE, IL6
10intracranial aneurysm30.7ELN, COL3A1, ELANE
11marfan syndrome30.7ELN, COL3A1
12thrombocytopenia30.7F2, F3, IL6
13antiphospholipid syndrome30.7F3, F2
14peritonitis30.2F2, CMA1, IL6, COL3A1, MMP8
15atherosclerosis29.6XDH, CMA1, MMP9, MMP8, IL6, F3
16aortic aneurysm11.8
17horseshoe kidney11.0
18ischemia10.8
19duodenitis10.8
20duodenal obstruction10.8
21artery disease10.6
22chylous ascites10.6
23superior mesenteric artery syndrome10.6
24compartment syndrome10.6
25pancreatitis10.6
26retroperitoneal fibrosis10.6
27endotheliitis10.6
28aortic aneurysm, familial abdominal, 410.6
29factor xiii deficiency10.6F3
30homocysteinemia10.6ELN
31factor xii deficiency10.5F3
32factor viii deficiency10.5F3
33peripheral vascular disease10.5
34peripheral artery disease10.5
35aortitis10.5
36funisitis10.5MMP8
37obesity10.5
38thoracic aortic aneurysm10.5
39cholecystitis10.5
40neuropathy10.5
41capillary leak syndrome10.5ELANE
42factor x deficiency10.4F3, F2
43factor v deficiency10.4F2, F3
44vitamin k deficiency hemorrhagic disease10.4F3, F2
45factor xi deficiency, autosomal recessive10.4F3, F2
46emphysema due to aat deficiency10.4ELANE
47protein s deficiency10.4F3, F2
48conjunctivochalasis10.4MMP9
49hemorrhagic disease10.4F2, F3
50myocardial infarction10.4

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



Diseases related to abdominal aortic aneurysm

Symptoms for Abdominal Aortic Aneurysm

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Symptoms by clinical synopsis from OMIM:

100070

Clinical features from OMIM:

100070

HPO human phenotypes related to Abdominal Aortic Aneurysm:

id Description Frequency HPO Source Accession
1 abdominal aortic aneurysm HP:0004953

Drugs & Therapeutics for Abdominal Aortic Aneurysm

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Drug clinical trials:

Search ClinicalTrials for Abdominal Aortic Aneurysm

Search NIH Clinical Center for Abdominal Aortic Aneurysm

Genetic Tests for Abdominal Aortic Aneurysm

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Anatomical Context for Abdominal Aortic Aneurysm

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MalaCards organs/tissues related to Abdominal Aortic Aneurysm:

31
Kidney, Heart, Skin, Colon, Neutrophil, Smooth muscle, Spinal cord, Monocytes, Endothelial, Lung, T cells, Bone, Small intestine, Testes, Whole blood

FMA organs/tissues related to Abdominal Aortic Aneurysm:

14
The abdominal aorta

Animal Models for Abdominal Aortic Aneurysm or affiliated genes

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MGI Mouse Phenotypes related to Abdominal Aortic Aneurysm:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9COL3A1, IL6, AAAS, MMP9, F2
2MP:00053888.8F2, MMP9, ELN, IL6, COL3A1, LTC4S
3MP:00053698.7XDH, MMP9, F3, ELN, IL6, COL3A1
4MP:00020068.6MMP9, MMP8, F3, ELANE, IL6
5MP:00107718.5F2, XDH, MMP9, F3, IL6, COL3A1
6MP:00053858.4F2, MMP9, F3, ELN, IL6, COL3A1
7MP:00053767.9F2, XDH, MMP9, F3, ELANE, ELN
8MP:00036317.8F2, HOXA4, MMP9, PROK2, F3, AAAS
9MP:00107687.6F2, HOXA4, XDH, MMP9, F3, ELANE
10MP:00053877.3LTC4S, F2, XDH, CMA1, MMP9, MMP8

Publications for Abdominal Aortic Aneurysm

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Articles related to Abdominal Aortic Aneurysm:

(show top 50)    (show all 1497)
idTitleAuthorsYear
1
Is intervention better than surveillance in patients with type 2 endoleak post-endovascular abdominal aortic aneurysm repair? (25301297)
2014
2
Preoperative cardiac evaluation by dipyridamole thallium-201 myocardial perfusion scan provides no benefit in patients with abdominal aortic aneurysm. (23995459)
2013
3
Embolization with Histoacryl Glue of an Anastomotic Pseudoaneurysm following Surgical Repair of Abdominal Aortic Aneurysm. (23476883)
2013
4
Listeriosis infection of an abdominal aortic aneurysm in a diabetic patient. (23599616)
2013
5
Endovascular repair with chimney technique of abdominal aortic aneurysm with hostile aortic neck. (23539067)
2013
6
Decreased tissue levels of cyclophilin A, a cyclosporine a target and phospho-ERK1/2 in simvastatin patients with abdominal aortic aneurysm. (23558220)
2013
7
Treatment of abdominal aortic aneurysm with a new type of polymer-filled low profile device. (24380546)
2013
8
Ruptured common femoral artery aneurysm or abdominal aortic aneurysm? (24386587)
2013
9
Successful use of talc sclerodesis to control a persistent high-output groin seroma following endovascular abdominal aortic aneurysm repair. (23711974)
2013
10
Trends in abdominal aortic aneurysm prevalence and mortality in non-European countries. (24210419)
2013
11
Changes in the management of infrarenal abdominal aortic aneurysm disease in Sweden. (23334950)
2013
12
Authors' reply: Systematic review and meta-analysis of the early and late outcomes of open and endovascular repair of abdominal aortic aneurysm (Br J Surg 2013; 100: 863-872). (24037583)
2013
13
Plasma thrombin-antithrombin complex, prothrombin fragments 1 and 2, and D-dimer levelsA are elevated after endovascular but not open repair of infrarenal abdominal aortic aneurysm. (23490299)
2013
14
Single-stage repair of a complex type B aortic dissection associated with a pressurized infrarenal abdominal aortic aneurysm. (23988550)
2013
15
Assessment of insertion/deletion polymorphism of the angiotensin-converting enzyme gene in abdominal aortic aneurysm and inguinal hernia. (22271804)
2013
16
Activity of thrombin-activatable fibrinolysis inhibitor in the plasma of patients with abdominal aortic aneurysm. (24378973)
2013
17
Abdominal aortic aneurysm: an often asymptomatic and fatal men's health issue. (23093077)
2013
18
Inflammaging and Proteases in Abdominal Aortic Aneurysm. (22724479)
2012
19
Inverse production of IL-6 and IL-10 by abdominal aortic aneurysm explant tissues in culture. (22445549)
2012
20
Arteriosclerotic abdominal aortic aneurysm rupture into the vena cava. (23304039)
2012
21
To use or not to use heparin during abdominal aortic aneurysm repair? (22841359)
2012
22
Aorto-iliac occlusion masquerading as a ruptured abdominal aortic aneurysm. (20682957)
2012
23
Cyclooxygenase-2 inhibition attenuates abdominal aortic aneurysm progression in hyperlipidemic mice. (23209546)
2012
24
Endovascular aneurysm repair reverses the increased titer and the inflammatory activity of interleukin-1I+ in the serum of patients with abdominal aortic aneurysm. (21620624)
2011
25
Association of PPARgamma allelic variation, osteoprotegerin and abdominal aortic aneurysm. (19438902)
2010
26
Critical role of mast cell chymase in mouse abdominal aortic aneurysm formation. (19720934)
2009
27
Immune cells and molecular mediators in the pathogenesis of the abdominal aortic aneurysm. (19690470)
2009
28
Can surgeons assess CT suitability for endovascular repair (EVAR) in ruptured abdominal aortic aneurysm? Implications for a ruptured EVAR trial. (18401641)
2008
29
Chymase activates promatrix metalloproteinase-9 in human abdominal aortic aneurysm. (17964292)
2008
30
Hypotensive hemostatis (permissive hypotension) for ruptured abdominal aortic aneurysm: are we really in control? (17714634)
2007
31
The soluble forms of CD28, CD86 and CTLA-4 constitute possible immunological markers in patients with abdominal aortic aneurysm. (17391115)
2007
32
Pathophysiology of abdominal aortic aneurysms: insights from the elastase-induced model in mice with different genetic backgrounds. (17182923)
2006
33
Deletion of p47phox attenuates angiotensin II-induced abdominal aortic aneurysm formation in apolipoprotein E-deficient mice. (16864727)
2006
34
Matrix metalloproteinase 2 polymorphisms in a caucasian population with abdominal aortic aneurysm. (16458924)
2006
35
Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm. (15698546)
2004
36
Gradient of proteolytic enzymes, their inhibitors and matrix proteins expression in a ruptured abdominal aortic aneurysm. (15255789)
2004
37
Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm. (14681642)
2003
38
Is elective abdominal aortic aneurysm repair accompanied by high grade oxidative stress? (14582543)
2003
39
Ruptured abdominal aortic aneurysm presenting as groin pain. (11942452)
2002
40
Human abdominal aortic aneurysm is characterized by decreased versican concentration and specific downregulation of versican isoform V(0). (11166769)
2001
41
Endoluminal treatment of ruptured abdominal aortic aneurysm with small intestinal submucosa sandwich endografts: a pilot study in sheep. (11443394)
2001
42
High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm. (10957660)
2000
43
Mixed agonistic-antagonistic cytokine response in whole blood from patients undergoing abdominal aortic aneurysm repair. (10229162)
1999
44
Angiogenesis is associated with mononuclear inflammatory cells in abdominal aortic aneurysms. (9598229)
1998
45
Natural history of abdominal aortic aneurysm with and without coexisting chronic obstructive pulmonary disease. (9719317)
1998
46
Expression of matrix metalloproteinases and TIMPs in human abdominal aortic aneurysms. (9588507)
1998
47
An unusual presentation of a ruptured abdominal aortic aneurysm. (8581256)
1995
48
Outcome in patients who require renal support after surgery for ruptured abdominal aortic aneurysm. (8044595)
1994
49
Seasonal variation in the incidence of ruptured abdominal aortic aneurysm. (1298219)
1992
50
Ruptured abdominal aortic aneurysm with horseshoe kidney. (6502842)
1984

Variations for Abdominal Aortic Aneurysm

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Expression for genes affiliated with Abdominal Aortic Aneurysm

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

Pathways for genes affiliated with Abdominal Aortic Aneurysm

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Pathways related to Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MMP9, IL6
29.7MMP9, F2
3
Show member pathways
thioredoxin pathway36
9.6F2, XDH, IL6
49.4F2, KLK1
59.3ELN, MMP9, ELANE
69.3ELANE, MMP9, IL6
79.3IL6, ELANE, MMP9
8
Show member pathways
9.1KLK1, F2, F3
9
Show member pathways
8.8MMP8, MMP9, ELN, COL3A1, F2
10
Show member pathways
8.5MMP9, ELANE, MMP8, CMA1
11
Show member pathways
8.4COL3A1, F3, KLK1, MMP9, F2
12
Show member pathways
8.1CMA1, MMP8, ELANE, ELN, COL3A1, MMP9
13
Show member pathways
Metalloproteases in connective tissue degradation
7.7KLK1, COL3A1, ELN, MMP8, MMP9, CMA1

Compounds for genes affiliated with Abdominal Aortic Aneurysm

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Compounds related to Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

(show top 50)    (show all 127)
idCompoundScoreTop Affiliating Genes
1mnpt4310.3F2, F3
2aprosulate4310.3F2, F3
3napsagatran4310.3F2, F3
4brodifacoum4310.3F2, F3
5hemochron4310.2F2, F3
6certoparin4310.2F2, F3
7appt4310.2F3, F2
8isodesmosine4310.2ELN, ELANE
9coumarins4310.1F2, XDH, F3
10cacl24310.0F3, MMP8, ELN
11tannins439.9ELN, ELANE, XDH
12heparin sodium439.9F2, F3
13epsilon aminocaproic acid439.9ELANE, F3, F2
14inogatran439.8F2, F3
15hocl439.8ELANE, MMP8, XDH
16dermatan sulfate439.7ELANE, ELN, F3, F2
173,4-dichloroisocoumarin43 1210.7ELANE, F3, MMP9
18protamine439.7IL6, F3, F2, ELANE
198-isoprostane439.7XDH, MMP9, IL6
20dmso439.6ELN, XDH, F3, LTC4S
21pdtc439.5F3, MMP9, IL6, XDH
22silymarin439.5F2, XDH, MMP9
23simvastatin43 49 59 28 24 1214.5F2, IL6, MMP9, F3
24ivig439.5IL6, ELN, MMP9
25gabexate mesilate439.4MMP9, IL6, ELANE, XDH
26batimastat43 59 1211.4MMP8, MMP9, ELANE
27(4-aminophenyl)mercuric acetate439.4MMP9, MMP8, ELANE, ELN
28doxycycline43 1210.4ELN, ELANE, MMP8, MMP9
29leukotriene b443 59 2411.3IL6, LTC4S, MMP9, ELANE
30chymostatin439.3CMA1, MMP9, ELANE
31procollagen439.3COL3A1, MMP9, ELN, CMA1
32aspirin43 49 28 2412.3ELANE, LTC4S, F3, F2
33n acetylcysteine439.3IL6, ELN, MMP9, XDH, F2
34dextran sulfate439.2F3, ELANE, IL6
35hyaluronic acid43 2410.2ELN, MMP9, F2, ELANE, IL6
36aspartate439.2MMP9, F3, F2, ELN, COL3A1
37creatinine439.2IL6, ELN, F3, F2, MMP9
38epinephrine43 24 1211.1F2, MMP9, F3, ELANE, IL6
39kininogen439.1F3, ELANE, F2, KLK1
40pge2438.9LTC4S, MMP9, MMP8, ELANE, IL6
41alanine438.9IL6, ELN, MMP9, F3, MMP8, F2
42heparin43 28 24 1211.9CMA1, F3, ELANE, ELN, F2
43vegf438.9MMP9, ELN, IL6, F3, PROK2, MMP8
44cyclosporin a43 28 5910.8MMP9, ELANE, MMP8, COL3A1, IL6, F2
45fibrinogen438.6IL6, ELN, ELANE, F3, MMP8, MMP9
46retinoic acid43 249.5MMP8, MMP9, ELN, F3, ELANE, IL6
47lactate438.5F2, XDH, MMP9, MMP8, ELANE, IL6
48aprotinin43 129.4IL6, KLK1, ELANE, MMP9, F2, F3
49cysteine437.9XDH, CMA1, MMP9, ELANE, LTC4S, ELN
50serine437.4KLK1, ELN, ELANE, F3, MMP8, MMP9

GO Terms for genes affiliated with Abdominal Aortic Aneurysm

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Cellular components related to Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.4MMP9, ELN, MMP8
2extracellular matrixGO:00310129.1COL3A1, F3, CMA1
3extracellular spaceGO:00056158.5MMP8, F3, IL6, COL3A1, F2, MMP9
4extracellular regionGO:00055766.9COL3A1, F2, XDH, CMA1, MMP9, MMP8

Biological processes related to Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of chemokine biosynthetic processGO:00450799.8IL6, ELANE
2platelet activationGO:00301689.7COL3A1, IL6, F2
3positive regulation of reactive oxygen species metabolic processGO:020003799.6XDH, F2
4leukocyte migrationGO:00509009.2F2, MMP9, ELANE
5collagen catabolic processGO:00305749.0COL3A1, ELANE, MMP8, MMP9
6proteolysisGO:00065088.4F2, CMA1, MMP9, MMP8, ELANE
7extracellular matrix disassemblyGO:00226178.3COL3A1, ELN, ELANE, MMP8, MMP9, CMA1
8extracellular matrix organizationGO:00301988.2CMA1, MMP9, MMP8, ELANE, ELN, COL3A1

Molecular functions related to Abdominal Aortic Aneurysm according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042528.0KLK1, ELANE, MMP8, CMA1, F2

Products for genes affiliated with Abdominal Aortic Aneurysm

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Sources for Abdominal Aortic Aneurysm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet