MCID: ABD003
MIFTS: 71

Abdominal Aortic Aneurysm malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Abdominal Aortic Aneurysm

About this section
Sources:
42NIH Rare Diseases, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: 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 kidney, heart and skin, 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:63 Abdominal aortic aneurysm (also known as AAA, pronounced \"triple-a\") is a localized dilatation... more...

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

Aliases & Classifications for Abdominal Aortic Aneurysm

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

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 60
aneurysm, abdominal aortic 42
aortic aneurysm abdominal 44


External Ids:

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

Related Diseases for Abdominal Aortic Aneurysm

About this section
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 disease31.5ELANE, COL3A1, MMP9, MMP12, ELN, MMP2
3ischemia31.2MMP3, XDH
4hypertension30.9F2, MMP9
5thoracic aortic aneurysm30.9MMP2, ELN
6pancreatitis30.8IL6, ELANE
7vascular disease30.7F3, ELN, ELANE, XDH, MMP9
8obesity30.6IL6, MMP3
9coronary artery disease30.5MMP12, MMP13, MMP3, F3, IL6, COL3A1
10pneumonia30.5IL6, ELANE, MMP12, XDH
11myocardial infarction30.5MMP13, F3, COL3A1
12disseminated intravascular coagulation30.5ELANE, F2, F3
13atherosclerosis30.4MMP2, MMP12, MMP9, PLA2G10, MMP3, MMP13
14colorectal cancer30.4XDH, MMP2, MMP12, MMP13, MMP9
15intracranial aneurysm30.4COL3A1, ELANE, ELN
16peritonitis30.4F2, IL6, COL3A1
17colon cancer30.4MMP13, MMP9, MMP2, MMP3
18hyperhomocysteinemia30.4ELN, F2
19ehlers-danlos syndrome30.4ELN, ELANE
20arteriosclerosis30.4ELN
21hepatocellular carcinoma30.2ELANE, IL6, MMP2, F2, MMP12, MMP9
22bladder carcinoma30.2MMP9, MMP12, MMP2, MMP13, XDH
23acute myocardial infarction30.2XDH, MMP9, F3
24diabetes mellitus30.2IL6, MMP3, MMP9
25acute pancreatitis30.2ELANE, IL6
26antiphospholipid syndrome30.2F3, F2
27wegener's granulomatosis30.2ELANE, ELN
28marfan syndrome30.2COL3A1, ELN
29alpha 1-antitrypsin deficiency30.2ELANE
30aortic aneurysm11.7
31ruptured aortic aneurysm11.5
32aortic disease11.0
33duodenitis10.8
34duodenal obstruction10.7
35dissecting aortic aneurysm10.6
36spinal cord ischemia10.6
37coronary aneurysm10.6
38superior mesenteric artery syndrome10.6
39compartment syndrome10.6
40peripheral vascular disease10.5
41ureteral obstruction10.4
42aortitis10.4
43cholecystitis10.4
44neuropathy10.4
45kidney disease10.4
46aortic aneurysm, familial abdominal 210.4
47aortic aneurysm, familial abdominal, 410.4
48carotid stenosis10.3
49discitis10.3
50renovascular hypertension10.3

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



Diseases related to abdominal aortic aneurysm

Clinical Features for Abdominal Aortic Aneurysm

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

611891,100070,614375,609782

Clinical synopsis from OMIM:

100070

Drugs & Therapeutics for Abdominal Aortic Aneurysm

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section

Anatomical Context for Abdominal Aortic Aneurysm

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Abdominal Aortic Aneurysm:

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

Animal Models for Abdominal Aortic Aneurysm or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Abdominal Aortic Aneurysm:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538711.6F3, IL6, XDH, TNFSF12, HELLS, MMP3
2MP:000537611.5ELN, COL3A1, HELLS, XDH, MMP13, MMP12
3MP:001076811.3IL6, HOXA4, XDH, HELLS, F3, MMP2
4MP:001077111.2COL3A1, XDH, IL6, MMP13, MMP12, MMP9
5MP:000536911.2COL3A1, XDH, IL6, F3, MMP2, MMP9
6MP:000539711.2HELLS, TNFSF12, IL6, F3, MMP12, MMP9
7MP:000538411.1HELLS, TNFSF12, XDH, IL6, F3, MMP13
8MP:000538511.0F3, MMP13, MMP12, F2, PLA2G10
9MP:000538811.0COL3A1, IL6, MMP2, MMP9, ELN
10MP:000537810.9IL6, XDH, HELLS, COL3A1, F3, MMP13
11MP:000539010.9HELLS, HOXA4, IL6, MMP13, MMP3

Publications for Abdominal Aortic Aneurysm

About this section
Sources:
50PubMed
See all sources

Articles related to Abdominal Aortic Aneurysm:

(show top 50)    (show all 1484)
idTitleAuthorsYear
1
Clinical and Radiological Outcome After Endovascular Abdominal Aortic Aneurysm Repair: Comparison of Different Grafts. Preliminary Single-center Experience. (24425845)
2014
2
Listeriosis infection of an abdominal aortic aneurysm in a diabetic patient. (23599616)
2013
3
Coexistence of pheochromocytoma with abdominal aortic aneurysm: an untold association. (23919200)
2013
4
Intraoperative hypothermia is associated with an increased intensive care unit length-of-stay in patients undergoing elective open abdominal aortic aneurysm surgery: a retrospective cohort study. (24180717)
2013
5
A pilot study on low-density lipoprotein receptor-related protein-1 in Chinese patients with abdominal aortic aneurysm. (24054777)
2013
6
Commentary on 'strain measurement of abdominal aortic aneurysm with real-time 3D ultrasound speckle tracking'. (23391601)
2013
7
Disparities in outcomes for Hispanic patients undergoing endovascular and open abdominal aortic aneurysm repair. (23084731)
2013
8
Acute kidney injury after endovascular repair of abdominal aortic aneurysm. (23731304)
2013
9
Endovascular stent-graft repair for abdominal aortic aneurysm in a patient with a short and severely angulated proximal aortic neck. (24064766)
2013
10
Outcomes after endovascular abdominal aortic aneurysm repair are equivalent between genders despite anatomic differences in women. (23266281)
2013
11
Fibrinogen-specific antibody induces abdominal aortic aneurysm in mice through complement lectin pathway activation. (24167262)
2013
12
Changes in abdominal aortic aneurysm rupture and short-term mortality, 1995-2008: a retrospective observational study. (22964737)
2012
13
Coagulopathy and transfusion product usage in relation to ruptured abdominal aortic aneurysm scoring systems in a tertiary care centre in Japan. (22395350)
2012
14
Final follow-up of the Multicentre Aneurysm Screening Study (MASS) randomized trial of abdominal aortic aneurysm screening (Br J Surg 2012; 99: 1649-1656). (23132415)
2012
15
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
16
Role of vascular endothelial growth factor-A in development of abdominal aortic aneurysm. (21436157)
2011
17
Repair of abdominal aortic aneurysms in the presence of the horseshoe kidney. (22233614)
2011
18
Vertebral osteomyelitis and discitis with epidural abscess: an unusual finding ten weeks post open abdominal aortic aneurysm repair. (20336910)
2010
19
Is there an association between angiotensin converting enzyme (ACE) genotypes and abdominal aortic aneurysm? (20655774)
2010
20
Atorvastatin modulates matrix metalloproteinase expression, activity, and signaling in abdominal aortic aneurysms. (20034937)
2010
21
Propensity scored analysis of outcomes after ruptured abdominal aortic aneurysm. (20155793)
2010
22
Ruptured abdominal aortic aneurysm related to IgG4 periaortitis. (19741239)
2009
23
Clinical trial of doxycycline for matrix metalloproteinase-9 inhibition in patients with an abdominal aneurysm: doxycycline selectively depletes aortic wall neutrophils and cytotoxic T cells. (19364980)
2009
24
Molecular targets and abdominal aortic aneurysms. (19519557)
2009
25
In-hospital mortality of ruptured abdominal aortic aneurysm. (18796032)
2008
26
Abdominal aortic aneurysm associated with horseshoe kidney. (18515663)
2008
27
The interleukin-10-1082 'A' allele and abdominal aortic aneurysms. (17903648)
2007
28
Endovascular treatment for ruptured abdominal aortic aneurysm. (17253551)
2007
29
Pituitary apoplexy after aortic abdominal aneurysm surgery: a case report. (16612920)
2006
30
eNOS G894T polymorphism as a mild predisposing factor for abdominal aortic aneurysm. (16171581)
2005
31
Quality of life and long-term results after ruptured abdominal aortic aneurysm. (15288629)
2004
32
The influence of peripheral vascular disease on the carotid and femoral wall mechanics in subjects with abdominal aortic aneurysm. (12563214)
2003
33
IVUS guidance of thoracic and complex abdominal aortic aneurysm stent-graft repairs using an intracardiac echocardiography probe: preliminary report. (12877602)
2003
34
Genetic linkage of candidate genes in families with abdominal aortic aneurysms? (12917839)
2003
35
Involvement of heparanase in human abdominal aortic aneurysm]. (12509917)
2002
36
Pancreatitis and duodenal obstruction following abdominal aortic aneurysm repair. (12232934)
2002
37
Abdominal aortic aneurysm and a horseshoe kidney. (11245384)
2001
38
Two incidental cases of abdominal aortic aneurysm and gallbladder cancer. Further data influencing the management of patients affected by aneurysm and gallbladder disease. (10959149)
2000
39
Expression of collagenase-3 (MMP-13) in human abdominal aortic aneurysms and vascular smooth muscle cells in culture. (10441523)
1999
40
Aortovenous fistula to the inferior mesenteric vein in a ruptured abdominal aortic aneurysm. (9519006)
1998
41
Detection of type III collagen fragments in specimens of abdominal aortic aneurysms. (9590702)
1998
42
Ruptured abdominal aortic aneurysm masquerading as testicular pain. (9217552)
1997
43
Influence of screening on the incidence of ruptured abdominal aortic aneurysm: 5-year results of a randomized controlled study. (8653346)
1996
44
Duodenal obstruction following elective abdominal aortic aneurysm repair. (9013023)
1996
45
Peter B. Samuels Award. Ruptured abdominal aortic aneurysm repair: the financial analysis. (7631941)
1995
46
Irreducible inguinal hernia as a presentation of ruptured abdominal aortic aneurysm. (2593103)
1989
47
The blue scrotum sign of Bryant: a diagnostic clue to ruptured abdominal aortic aneurysm. (3624839)
1987
48
Salmonellosis and ruptured abdominal aortic aneurysm: a case report. (6984737)
1982
49
Emergency control of ruptured abdominal aortic aneurysm by transaxillary balloon catheter. (5027491)
1972
50
Ruptured aortic aneurysm as an abdominal emergency. (5997142)
1966

Genetic Variations for Abdominal Aortic Aneurysm

About this section

Expression for genes affiliated with Abdominal Aortic Aneurysm

About this section
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

About this section
Sources:
53Reactome, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
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

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 49PharmGKB
See all sources

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

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1retinoic acid44 2412.5IL6, F3, ELN, HELLS, MMP9, MMP3
2cysteine4411.5ELANE, MMP2, MMP3, MMP13, F3, XDH
3hyaluronic acid44 2412.5ELANE, ELN, IL6, MMP13, MMP2, MMP3
4n acetylcysteine4411.5ELN, F2, MMP9, MMP12, MMP2, IL6
5fibrinogen4411.5IL6, F3, MMP13, MMP12, MMP9, F2
6lactate4411.5ELANE, IL6, ELN, F2, MMP2, MMP3
7vegf4411.4MMP2, MMP3, MMP12, MMP9, MMP13, IL6
8alanine4411.4ELN, HELLS, MMP2, MMP3, F2, F3
9genistein44 28 59 2 11 2416.4MMP9, MMP2, IL6, MMP13, MMP3, ELN
10batimastat44 59 1113.4MMP3, MMP13, MMP2, MMP9, ELANE, MMP12
11doxycycline44 1112.4MMP9, MMP2, MMP3, MMP13, ELN, ELANE
12creatinine4411.4MMP9, F3, MMP3, MMP2, IL6, F2
13tgf beta14411.3MMP9, IL6, MMP13, MMP3, ELN, MMP2
14serine4411.3MMP3, MMP2, MMP12, MMP13, HELLS, MMP9
15ribonucleic acid4411.3MMP2, MMP3, MMP13, HELLS, COL3A1, MMP9
16gi 254023x5911.3MMP3, MMP13, MMP12, MMP9, MMP2
17uk 3833675911.3MMP3, MMP2, MMP12, MMP9, MMP13
18gm 60015911.3MMP9, MMP12, MMP2, MMP3, MMP13
19hydroxamate4411.3MMP9, MMP12, MMP2, MMP3, MMP13
20marimastat44 59 1113.3MMP9, MMP12, MMP2, MMP3, MMP13
21sb 20358044 5912.3MMP9, MMP2, MMP3, MMP13, IL6, F3
22pdtc4411.3F3, XDH, MMP2, IL6, MMP9
23sp 60012544 5912.2MMP13, F3, IL6, MMP9, MMP2
24aprotinin44 1112.2F3, MMP13, MMP2, ELANE
25ilomastat4411.2MMP3, MMP2, ELANE, MMP9
26gabexate mesilate4411.2XDH, IL6, MMP9, ELANE
27thermolysin4411.2MMP13, MMP3, ELANE, ELN
28(4-aminophenyl)mercuric acetate4411.2MMP13, ELANE, MMP3
29simvastatin44 49 59 28 11 2416.1F3, MMP3, MMP9, F2, IL6
308-isoprostane4411.1IL6, MMP9, MMP2, XDH
31alginate4411.1ELN, MMP13, ELANE
32silymarin4411.1MMP2, XDH, F2, MMP9
33pge24411.1PLA2G10, MMP9, MMP2
34protamine4411.1IL6, F3, F2, ELANE
35epinephrine44 11 2413.1F3, ELANE, F2
36curcumin4411.0IL6, MMP3, MMP2, MMP9, MMP13
37dermatan sulfate4411.0F3, ELANE, ELN, F2
38gelfoam4411.0ELN, MMP9, MMP2
393,4-dichloroisocoumarin44 1112.0F3, ELANE, MMP9
40egcg4411.0ELANE
41hydroxyproline44 11 2413.0MMP13, MMP2, ELN, MMP9
42latanoprost44 1111.9MMP3, MMP2, MMP9
43cilomilast4410.9MMP2, ELANE, MMP9
44cycloheximide4410.9ELN
45pentoxifylline44 1111.8ELANE, MMP2, IL6, F3
46ibuprofen44 28 49 11 2414.8F3, MMP2, IL6, MMP3
47ivig4410.7ELN
48estrogen4410.6ELN
49coumarins4410.6F3, F2, XDH
50tannins4410.4XDH, ELANE, ELN

GO Terms for genes affiliated with Abdominal Aortic Aneurysm

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Abdominal Aortic Aneurysm

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet