MCID: ABD003
MIFTS: 67

Abdominal Aortic Aneurysm malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Abdominal Aortic Aneurysm

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Abdominal Aortic Aneurysm, also known as aortic aneurysm, familial abdominal 1, is related to aneurysm and hypertension. An important gene associated with Abdominal Aortic Aneurysm is AAA1 (aortic aneurysm, familial abdominal 1), and among its related pathways are Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Selenium Pathway. The compounds mnpt and brodifacoum have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and skin, and related mouse phenotypes are tumorigenesis and respiratory system.

Wikipedia:65 Abdominal aortic aneurysm (also known as AAA, pronounced \"triple-a\") is a localized dilatation... more...

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

Aliases & Classifications for Abdominal Aortic Aneurysm

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


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 62
aneurysm, abdominal aortic 43
aortic aneurysm abdominal 45


External Ids:

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

Related Diseases for Abdominal Aortic Aneurysm

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Sources:
17GeneCards, 18GeneDecks
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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 172)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm32.6MMP9, MMP8, ELANE, ELN, COL3A1
2hypertension31.1MMP9, KLK1, F2
3disseminated intravascular coagulation30.7ELANE, F3, F2
4vascular disease30.7ELANE, F3, MMP9, XDH, ELN, CMA1
5pneumonia30.7MMP8, IL6, ELANE, XDH
6ehlers-danlos syndrome30.6ELANE, ELN
7factor vii deficiency30.6F3, F2
8intracranial aneurysm30.6ELN, ELANE, COL3A1
9peritonitis30.5COL3A1, MMP8, IL6, F2, CMA1
10atherosclerosis30.4CMA1, MMP9, MMP8, F3, ELANE, ELN
11hemophilia b30.4F2, F3
12thrombocytopenia30.4F2, F3, IL6
13marfan syndrome30.4COL3A1, ELN
14coronary artery disease30.3MMP8, XDH, IL6
15sepsis30.3IL6, ELANE, F3, XDH, F2
16aortic aneurysm11.7
17horseshoe kidney11.0
18ischemia10.8
19duodenitis10.8
20duodenal obstruction10.8
21chylous ascites10.6
22superior mesenteric artery syndrome10.6
23compartment syndrome10.6
24pancreatitis10.6
25endotheliitis10.6
26retroperitoneal fibrosis10.6
27artery disease10.5
28peripheral vascular disease10.5
29aortitis10.5
30thoracic aortic aneurysm10.5
31cholecystitis10.5
32neuropathy10.5
33obesity10.5
34ureteral obstruction10.4
35peripheral artery disease10.4
36kidney disease10.4
37myocardial infarction10.4
38aortic aneurysm, familial abdominal 210.4
39aortic aneurysm, familial abdominal, 410.4
40renovascular hypertension10.3
41discitis10.3
42hyperhomocysteinemia10.3
43situs inversus10.3
44polycystic kidney disease10.3
45femoral neuropathy10.3
46epidural abscess10.3
47intermittent claudication10.3
48angiosarcoma10.3
49arteriosclerosis10.3
50cholesterol embolism10.3

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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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

100070

Clinical features from OMIM:

614375,100070,611891,609782

Drugs & Therapeutics for Abdominal Aortic Aneurysm

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Abdominal Aortic Aneurysm:

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

Animal Models for Abdominal Aortic Aneurysm or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Abdominal Aortic Aneurysm:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.3IL6, ELANE, F3, MMP8, MMP9
2MP:00053888.8F2, HEY2, MMP9, ELN, IL6, COL3A1
3MP:00053698.8XDH, HEY2, MMP9, F3, ELN, IL6
4MP:00107718.7F2, XDH, MMP9, F3, ANGPTL2, IL6
5MP:00053858.5F2, HEY2, MMP9, F3, ELN, IL6
6MP:00053878.1MMP9, CMA1, XDH, F2, MMP8, F3
7MP:00036318.0F2, HOXA4, HEY2, MMP9, PROK2, F3
8MP:00053788.0F2, XDH, HEY2, MMP9, F3, ANGPTL2
9MP:00107687.9F2, HOXA4, XDH, HEY2, MMP9, F3
10MP:00053767.9COL3A1, F2, XDH, HEY2, MMP9, F3

Publications for Abdominal Aortic Aneurysm

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52PubMed
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Articles related to Abdominal Aortic Aneurysm:

(show top 50)    (show all 1447)
idTitleAuthorsYear
1
Preoperative cardiac evaluation by dipyridamole thallium-201 myocardial perfusion scan provides no benefit in patients with abdominal aortic aneurysm. (23995459)
2013
2
Embolization with Histoacryl Glue of an Anastomotic Pseudoaneurysm following Surgical Repair of Abdominal Aortic Aneurysm. (23476883)
2013
3
Listeriosis infection of an abdominal aortic aneurysm in a diabetic patient. (23599616)
2013
4
Endovascular repair with chimney technique of abdominal aortic aneurysm with hostile aortic neck. (23539067)
2013
5
Decreased tissue levels of cyclophilin A, a cyclosporine a target and phospho-ERK1/2 in simvastatin patients with abdominal aortic aneurysm. (23558220)
2013
6
Treatment of abdominal aortic aneurysm with a new type of polymer-filled low profile device. (24380546)
2013
7
Ruptured common femoral artery aneurysm or abdominal aortic aneurysm? (24386587)
2013
8
Successful use of talc sclerodesis to control a persistent high-output groin seroma following endovascular abdominal aortic aneurysm repair. (23711974)
2013
9
Trends in abdominal aortic aneurysm prevalence and mortality in non-European countries. (24210419)
2013
10
Changes in the management of infrarenal abdominal aortic aneurysm disease in Sweden. (23334950)
2013
11
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
12
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
13
Single-stage repair of a complex type B aortic dissection associated with a pressurized infrarenal abdominal aortic aneurysm. (23988550)
2013
14
Assessment of insertion/deletion polymorphism of the angiotensin-converting enzyme gene in abdominal aortic aneurysm and inguinal hernia. (22271804)
2013
15
Activity of thrombin-activatable fibrinolysis inhibitor in the plasma of patients with abdominal aortic aneurysm. (24378973)
2013
16
Abdominal aortic aneurysm: an often asymptomatic and fatal men's health issue. (23093077)
2013
17
Vacuum and mesh-mediated fascial traction for closure of the open abdomen after abdominal aortic aneurysm repair. (23528244)
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
Superior mesenteric artery syndrome in association with an abdominal aortic aneurysm. (19833010)
2009
29
Can surgeons assess CT suitability for endovascular repair (EVAR) in ruptured abdominal aortic aneurysm? Implications for a ruptured EVAR trial. (18401641)
2008
30
Chymase activates promatrix metalloproteinase-9 in human abdominal aortic aneurysm. (17964292)
2008
31
Hypotensive hemostatis (permissive hypotension) for ruptured abdominal aortic aneurysm: are we really in control? (17714634)
2007
32
The soluble forms of CD28, CD86 and CTLA-4 constitute possible immunological markers in patients with abdominal aortic aneurysm. (17391115)
2007
33
Pathophysiology of abdominal aortic aneurysms: insights from the elastase-induced model in mice with different genetic backgrounds. (17182923)
2006
34
Deletion of p47phox attenuates angiotensin II-induced abdominal aortic aneurysm formation in apolipoprotein E-deficient mice. (16864727)
2006
35
Matrix metalloproteinase 2 polymorphisms in a caucasian population with abdominal aortic aneurysm. (16458924)
2006
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 54R&D Systems, 12EMD Millipore
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Pathways related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9KLK1, F2
2
Show member pathways
thioredoxin pathway38
9.8IL6, XDH, F2
39.7ELN, ELANE, MMP9
4
Show member pathways
9.7KLK1, F3, F2
59.7MMP9, ELANE, IL6
6
Show member pathways
9.4F2, MMP9, MMP8, ELN, COL3A1
7
Show member pathways
9.3F2, MMP9, F3, COL3A1, KLK1
8
Show member pathways
8.9KLK1, COL3A1, ELN, MMP8, MMP9, CMA1
9
Show member pathways
8.9TPSAB1, CMA1, MMP9, MMP8, ELANE
10
Show member pathways
8.5TPSAB1, CMA1, MMP9, MMP8, ELANE, ELN

Compounds for genes affiliated with Abdominal Aortic Aneurysm

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 24HMDB
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Compounds related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

(show top 50)    (show all 115)
idCompoundScoreTop Affiliating Genes
1mnpt4510.4F2, F3
2brodifacoum4510.4F3, F2
3napsagatran4510.4F3, F2
4aprosulate4510.4F3, F2
5isodesmosine4510.4ELANE, ELN
6appt4510.4F3, F2
7certoparin4510.4F2, F3
8hemochron4510.3F3, F2
9coumarins4510.3XDH, F2, F3
10cacl24510.2F3, ELN, MMP8
11heparin sodium4510.2F2, F3
12tannins4510.2ELANE, XDH, ELN
13inogatran4510.2F2, F3
14epsilon aminocaproic acid4510.2F2, F3, ELANE
153,4-dichloroisocoumarin45 1111.1ELANE, MMP9, F3
16hocl4510.1MMP8, ELANE, XDH
17ecarin4510.1F3, F2
18dermatan sulfate4510.1F2, ELANE, ELN, F3
198-isoprostane4510.1IL6, MMP9, XDH
20protamine4510.0IL6, F2, ELANE, F3
21chymostatin4510.0CMA1, MMP9, ELANE
22pdtc4510.0F3, MMP9, XDH, IL6
23gabexate mesilate459.9MMP9, IL6, ELANE, XDH
24silymarin459.9XDH, F2, MMP9
25(4-aminophenyl)mercuric acetate459.9MMP8, MMP9, ELANE, ELN
26procollagen459.9ELN, COL3A1, CMA1, MMP9
27batimastat45 61 1111.9MMP9, MMP8, ELANE
28doxycycline45 1110.9MMP8, ELN, ELANE, MMP9
29simvastatin45 51 61 29 24 1114.9MMP9, F3, F2, IL6
30kininogen459.9KLK1, ELANE, F3, F2
31dmso459.9F3, LTC4S, XDH, ELN
32leukotriene b445 61 2411.8IL6, ELANE, LTC4S, MMP9
33dextran 70459.8F3, F2
34hyaluronic acid45 2410.8F2, MMP9, IL6, ELN, ELANE
35n acetylcysteine459.7XDH, MMP9, ELN, IL6, F2
36epinephrine45 24 1111.7IL6, ELANE, F3, MMP9, F2
37cyclosporin a45 29 6111.5COL3A1, MMP9, ELANE, IL6, F2, MMP8
38pge2459.5LTC4S, ELANE, MMP8, MMP9, IL6
39aspirin45 51 29 2412.5ELANE, F2, F3, LTC4S
40creatinine459.5MMP9, IL6, F2, ELN, F3
41histamine45 29 2411.4TPSAB1, IL6, ELN, CMA1, LTC4S
42aspartate459.4F3, MMP9, ELN, COL3A1, F2
43vegf459.4PROK2, F3, ELN, IL6, MMP8, MMP9
44aprotinin45 1110.4MMP9, ELANE, IL6, F2, F3, KLK1
45alanine459.4IL6, F2, MMP9, MMP8, F3, ELN
46fibrinogen459.3F3, IL6, MMP8, MMP9, ELANE, F2
47lactate459.3XDH, F2, MMP9, MMP8, ELANE, IL6
48heparin45 29 24 1112.2CMA1, TPSAB1, ELN, ELANE, F2, F3
49cysteine458.9MMP8, F3, LTC4S, ELN, ELANE, CMA1
50serine458.4ELANE, ELN, MMP8, MMP9, CMA1, TPSAB1

GO Terms for genes affiliated with Abdominal Aortic Aneurysm

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16Gene Ontology
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Cellular components related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.3COL3A1, F3, CMA1, TPSAB1
2extracellular spaceGO:0056158.0F2, TPSAB1, MMP9, MMP8, F3, ANGPTL2
3extracellular regionGO:0055767.5COL3A1, F2, XDH, TPSAB1, CMA1, MMP9

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of chemokine biosynthetic processGO:0450799.7IL6, ELANE
2leukocyte migrationGO:0509009.7ELANE, MMP9, F2
3collagen catabolic processGO:0305749.4MMP9, MMP8, ELANE, COL3A1
4proteolysisGO:0065089.1F2, CMA1, MMP9, MMP8, ELANE
5extracellular matrix disassemblyGO:0226178.6COL3A1, TPSAB1, CMA1, MMP9, MMP8, ELANE
6extracellular matrix organizationGO:0301988.6TPSAB1, CMA1, MMP9, MMP8, ELANE, ELN

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042528.6KLK1, ELANE, MMP8, CMA1, TPSAB1, F2

Products for genes affiliated with Abdominal Aortic Aneurysm

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  • Antibodies
  • Proteins
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Sources for Abdominal Aortic Aneurysm

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet