MCID: ABD003
MIFTS: 68

Abdominal Aortic Aneurysm malady

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

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NIH Rare Diseases:42 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 hypertension, and has symptoms including 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...

Descriptions from OMIM:46 609782,100070,611891,614375

Aliases & Classifications for Abdominal Aortic Aneurysm

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 9diseasecard, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 25ICD10
See all sources

Abdominal Aortic Aneurysm, Aliases & Descriptions:

Name: Abdominal Aortic Aneurysm 8 42 10
Aortic Aneurysm, Familial Abdominal 1 8 9 46
Aortic Aneurysm, Familial Abdominal 46
Familial Abdominal Aortic Aneurysm 48
 
Aortic Aneurysm, Abdominal 62
Aneurysm, Abdominal Aortic 42
Aortic Aneurysm Abdominal 44


Classifications:

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


External Ids:

Disease Ontology8 DOID:7693
NCIt39 C27000
MeSH34 D017544
ICD10 via Orphanet26 I71.4
ICD1025 I71.4

Related Diseases for Abdominal Aortic Aneurysm

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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 177)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm32.6MMP9, MMP8, ELANE, ELN, COL3A1
2hypertension31.4F2, MMP9, KLK1
3chronic obstructive pulmonary disease31.3MMP9, IL6
4ehlers-danlos syndrome31.2ELANE, ELN
5disseminated intravascular coagulation31.2F2, F3, ELANE
6factor vii deficiency31.1F2, F3
7pneumonia31.0XDH, MMP8, ELANE, IL6
8hemophilia b30.9F2, F3
9intracranial aneurysm30.8ELANE, ELN, COL3A1
10vascular disease30.8XDH, CMA1, MMP9, F3, ELANE, ELN
11thrombocytopenia30.8F2, F3, IL6
12marfan syndrome30.7ELN, COL3A1
13sepsis30.6F2, XDH, F3, ELANE, IL6
14peritonitis30.5F2, CMA1, MMP8, IL6, COL3A1
15atherosclerosis30.2XDH, CMA1, MMP9, MMP8, F3, ELANE
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
28homocysteinemia10.6ELN
29factor xii deficiency10.6F3
30peripheral vascular disease10.5
31peripheral artery disease10.5
32funisitis10.5MMP8
33capillary leak syndrome10.5ELANE
34factor x deficiency10.5F2, F3
35vitamin k deficiency hemorrhagic disease10.5F3, F2
36factor v deficiency10.5F3, F2
37obesity10.5
38thoracic aortic aneurysm10.5
39aortitis10.5
40cholecystitis10.5
41neuropathy10.5
42conjunctivochalasis10.5MMP9
43factor xi deficiency10.5F2, F3
44synovitis10.5IL6, MMP8
45protein s deficiency10.5F2, F3
46hemorrhagic disease10.5F2, F3
47cerebral aneurysms10.5ELANE, ELN
48periodontal disease10.5IL6, ELANE
49von willebrand's disease10.4F2, F3
50factor viii deficiency10.4F2, F3

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:

609782,100070,611891,614375

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:

32
Kidney, Heart, Skin, Colon, Neutrophil, Smooth muscle, Spinal cord, Endothelial, Monocytes, Lung, T cells, Bone, Small intestine, Testes, Whole blood

Animal Models for Abdominal Aortic Aneurysm or affiliated genes

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MGI Mouse Phenotypes related to Abdominal Aortic Aneurysm:

36
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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Articles related to Abdominal Aortic Aneurysm:

(show top 50)    (show all 1474)
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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Expression patterns in normal tissues for genes affiliated with Abdominal Aortic Aneurysm

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Pathways for genes affiliated with Abdominal Aortic Aneurysm

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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 pathway37
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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Compounds related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

(show top 50)    (show all 115)
idCompoundScoreTop Affiliating Genes
1mnpt4410.4F2, F3
2brodifacoum4410.4F3, F2
3napsagatran4410.4F3, F2
4aprosulate4410.4F3, F2
5isodesmosine4410.4ELANE, ELN
6appt4410.4F3, F2
7certoparin4410.4F2, F3
8hemochron4410.3F3, F2
9coumarins4410.3XDH, F2, F3
10cacl24410.2F3, ELN, MMP8
11heparin sodium4410.2F2, F3
12tannins4410.2ELANE, XDH, ELN
13inogatran4410.2F2, F3
14epsilon aminocaproic acid4410.2F2, F3, ELANE
153,4-dichloroisocoumarin44 1111.1ELANE, MMP9, F3
16hocl4410.1MMP8, ELANE, XDH
17ecarin4410.1F3, F2
18dermatan sulfate4410.1F2, ELANE, ELN, F3
198-isoprostane4410.1IL6, MMP9, XDH
20protamine4410.0IL6, F2, ELANE, F3
21chymostatin4410.0CMA1, MMP9, ELANE
22pdtc4410.0F3, MMP9, XDH, IL6
23gabexate mesilate449.9MMP9, IL6, ELANE, XDH
24silymarin449.9XDH, F2, MMP9
25(4-aminophenyl)mercuric acetate449.9MMP8, MMP9, ELANE, ELN
26procollagen449.9ELN, COL3A1, CMA1, MMP9
27batimastat44 61 1111.9MMP9, MMP8, ELANE
28doxycycline44 1110.9MMP8, ELN, ELANE, MMP9
29simvastatin44 50 61 28 24 1114.9MMP9, F3, F2, IL6
30kininogen449.9KLK1, ELANE, F3, F2
31dmso449.9F3, LTC4S, XDH, ELN
32leukotriene b444 61 2411.8IL6, ELANE, LTC4S, MMP9
33dextran 70449.8F3, F2
34hyaluronic acid44 2410.8F2, MMP9, IL6, ELN, ELANE
35n acetylcysteine449.7XDH, MMP9, ELN, IL6, F2
36epinephrine44 24 1111.7IL6, ELANE, F3, MMP9, F2
37cyclosporin a44 28 6111.5COL3A1, MMP9, ELANE, IL6, F2, MMP8
38pge2449.5LTC4S, ELANE, MMP8, MMP9, IL6
39aspirin44 50 28 2412.5ELANE, F2, F3, LTC4S
40creatinine449.5MMP9, IL6, F2, ELN, F3
41histamine44 28 2411.4TPSAB1, IL6, ELN, CMA1, LTC4S
42aspartate449.4F3, MMP9, ELN, COL3A1, F2
43vegf449.4PROK2, F3, ELN, IL6, MMP8, MMP9
44aprotinin44 1110.4MMP9, ELANE, IL6, F2, F3, KLK1
45alanine449.4IL6, F2, MMP9, MMP8, F3, ELN
46fibrinogen449.3F3, IL6, MMP8, MMP9, ELANE, F2
47lactate449.3XDH, F2, MMP9, MMP8, ELANE, IL6
48heparin44 28 24 1112.2CMA1, TPSAB1, ELN, ELANE, F2, F3
49cysteine448.9MMP8, F3, LTC4S, ELN, ELANE, CMA1
50serine448.4ELANE, ELN, MMP8, MMP9, CMA1, TPSAB1

GO Terms for genes affiliated with Abdominal Aortic Aneurysm

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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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Sources for Abdominal Aortic Aneurysm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet