AAA1
MCID: ART138
MIFTS: 60

Aortic Aneurysm, Familial Abdominal, 1 (AAA1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Abdominal, 1

MalaCards integrated aliases for Aortic Aneurysm, Familial Abdominal, 1:

Name: Aortic Aneurysm, Familial Abdominal, 1 57
Abdominal Aortic Aneurysm 57 12 73 20 29 3 15 62 17
Aortic Aneurysm, Familial Abdominal 1 57 12 13
Aneurysm, Abdominal Aortic 57 20
Aortic Aneurysm, Abdominal 44 70
Aaa Syndrome 73 6
Aaa 57 72
Familial Abdominal Aortic Aneurysm 1 6
Aortic Aneurysm, Familial Abdominal 72
Aneurysm, Abdominal Aortic; Aaa 57
Abdominal Aortic Aneurysms 15
Aortic Aneurysm Abdominal 54
Aaa1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant vs. recessive at an autosomal major locus or multifactorial
col3a1 gene (120180.0004) mutations cause about 2%


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:7693
OMIM® 57 100070
OMIM Phenotypic Series 57 PS100070
MeSH 44 D017544
NCIt 50 C27000
SNOMED-CT 67 155422008
ICD10 32 I71.4
SNOMED-CT via HPO 68 258211005 263681008
UMLS 70 C0162871

Summaries for Aortic Aneurysm, Familial Abdominal, 1

GARD : 20 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.

MalaCards based summary : Aortic Aneurysm, Familial Abdominal, 1, also known as abdominal aortic aneurysm, is related to familial abdominal aortic aneurysm and limb ischemia. An important gene associated with Aortic Aneurysm, Familial Abdominal, 1 is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are GPCR Pathway and Integrin Pathway. The drugs Eplerenone and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include abdominal aorta, kidney and smooth muscle, and related phenotypes are abdominal aortic aneurysm and immune system

Disease Ontology : 12 An aortic aneurysm that is located in the abdominal aorta.

OMIM® : 57 Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). (100070) (Updated 05-Apr-2021)

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. Aortic aneurysms work in two ways: • The force of blood pumping can split the layers of the artery wall, allowing blood to leak in between them. This process is called a dissection. • The aneurysm can burst completely, causing bleeding inside the body. This is called a rupture. • Dissections and ruptures are the cause of most deaths from aortic aneurysms.

UniProtKB/Swiss-Prot : 72 Aortic aneurysm, familial abdominal: A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells.

PubMed Health : 62 About abdominal aortic aneurysm: The aorta is the artery that carries oxygen-rich blood from the heart to the rest of the body. The part of the aorta that runs through the abdomen is called the abdominal aorta. It usually has a diameter of about 2 cm. If one part of the aorta bulges outward and has a diameter of more than 3 cm, it is known as an abdominal aortic aneurysm (sometimes abbreviated as AAA). People who have this type of aneurysm usually don't notice it. This is because it typically doesn't cause any symptoms. Most aneurysms aren't dangerous. But there is a risk of the aorta suddenly rupturing (breaking open) if an aneurysm keeps on expanding. That is an emergency situation and life-threatening.

Wikipedia : 73 Triple-A syndrome or AAA syndrome, is a rare autosomal recessive congenital disorder. In most cases,... more...

Related Diseases for Aortic Aneurysm, Familial Abdominal, 1

Diseases in the Familial Abdominal Aortic Aneurysm family:

Aortic Aneurysm, Familial Abdominal, 1 Aortic Aneurysm, Familial Abdominal, 2
Aortic Aneurysm, Familial Abdominal, 3 Aortic Aneurysm, Familial Abdominal, 4

Diseases related to Aortic Aneurysm, Familial Abdominal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 795)
# Related Disease Score Top Affiliating Genes
1 familial abdominal aortic aneurysm 32.9 FBN1 ELN
2 limb ischemia 32.0 TIMP2 MMP9 MMP2 CCL2
3 pulmonary disease, chronic obstructive 31.8 TIMP1 MMP9 MMP8 MMP12 MMP1 ELN
4 lipoprotein quantitative trait locus 31.8 MMP9 MMP8 MMP3 MMP12 H19 FBN1
5 inguinal hernia 31.7 TIMP2 TIMP1 MMP9 MMP2 MMP1 FBN1
6 hydronephrosis 31.7 TIMP1 MMP9 FBN1 CCL2
7 respiratory failure 31.7 TIMP1 MMP8 ELANE CCL2
8 carotid stenosis 31.7 MMP9 MMP1 CDKN2B-AS1
9 marfan syndrome 31.6 MMP3 MMP2 MMP12 MMP1 FBN1 ELN
10 homocysteinemia 31.5 H19 FBN1 ELN CST3 CCL2
11 coronary artery aneurysm 31.4 MMP3 MMP12 MMP1
12 cerebral aneurysms 31.4 MMP2 ELN ELANE CST3
13 chronic kidney disease 31.4 MMP9 MMP3 MMP2 CST3 CCL2
14 intracranial aneurysm 31.4 MMP2 ELN CDKN2B-AS1 CCL2
15 peritonitis 31.3 MMP8 ELANE CCL2
16 proteasome-associated autoinflammatory syndrome 1 31.3 MMP9 ELANE CCL2
17 polycystic kidney disease 31.2 MMP9 MMP1 MIR15A CST3 CCL2
18 myocardial infarction 31.2 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP1
19 diabetes mellitus 31.2 TIMP1 MMP9 MMP8 MMP3 MMP2 MMP1
20 takayasu arteritis 31.1 MMP9 MMP3 MMP2
21 vascular disease 31.1 TIMP1 MMP9 MMP3 ELN CST3 CCL2
22 carotid artery disease 31.1 TIMP1 MMP9 MMP8 MMP3 MMP1 CCL2
23 heart disease 31.1 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP1
24 periodontitis 31.1 TIMP1 MMP9 MMP8 MMP3 MMP2 MMP1
25 kawasaki disease 31.0 TIMP1 MMP9 MMP3 ELANE CCL2
26 pneumothorax 31.0 TIMP2 TIMP1 MMP9 MMP2 MMP1 FBN1
27 scoliosis 31.0 TIMP2 MMP9 MMP3 FBN1 ELN
28 varicose veins 30.9 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP1
29 septic arthritis 30.9 MMP3 MMP2 MMP1
30 exfoliation syndrome 30.9 MMP3 MMP1 FBN1 ELN
31 coronary aneurysm 30.9 MMP9 MMP3
32 fibrosarcoma 30.9 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP1
33 bronchitis 30.8 MMP9 MMP12 ELANE
34 dilated cardiomyopathy 30.8 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
35 amaurosis fugax 30.8 MMP9 MMP8
36 moyamoya disease 1 30.8 TIMP2 MMP9 ELN
37 venous insufficiency 30.7 TIMP1 MMP9 MMP1 ELN
38 aortic dissection 30.7 MMP9 MMP8 MMP2 MMP12 FBN1 ELN
39 aneurysm 30.7 MMP12 FBN1 ELN CDKN2B-AS1
40 cerebral arterial disease 30.7 MMP9 ELN CDKN2B-AS1
41 arteriovenous malformation 30.7 MMP9 MMP3 MMP2
42 alpha-1-antitrypsin deficiency 30.7 MMP3 MMP12 MMP1 ELN ELANE
43 systolic heart failure 30.7 TIMP1 MMP9 MMP2 CST3
44 periodontitis, chronic 30.7 MMP8 MMP1
45 lymphangioleiomyomatosis 30.7 MMP9 MMP2 MMP1 ELN
46 pyelonephritis 30.7 TIMP1 MMP9 CCL2
47 hemopericardium 30.7 FBN1 ELN
48 intraocular pressure quantitative trait locus 30.7 TIMP2 MMP1 FBN1 ELN CDKN2B-AS1
49 pseudoxanthoma elasticum 30.7 MMP9 MMP3 MMP2 FBN1 ELN
50 aortic disease 30.7 MMP9 MIR15A FBN1 ELN

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Abdominal, 1:



Diseases related to Aortic Aneurysm, Familial Abdominal, 1

Symptoms & Phenotypes for Aortic Aneurysm, Familial Abdominal, 1

Human phenotypes related to Aortic Aneurysm, Familial Abdominal, 1:

31
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 31 HP:0005112

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Vascular:
abdominal aortic aneurysm
generalized dilating diathesis

Misc:
estimated 11.6-fold increase among persons with an affected first-degree relative

Clinical features from OMIM®:

100070 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Abdominal, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.7 CCL2 ELANE FBN1 MMP1 MMP12 MMP2
2 neoplasm MP:0002006 9.17 CST3 ELANE MMP1 MMP2 MMP8 MMP9

Drugs & Therapeutics for Aortic Aneurysm, Familial Abdominal, 1

PubMed Health treatment related to Aortic Aneurysm, Familial Abdominal, 1: 62

Whether or not treatment is a good idea, and what type of treatment would be suitable, will mainly depend on the size of the aneurysm , its general development and the overall health of the person who has it. Smaller abdominal aortic aneurysms that have a diameter of less than 5.5 cm are typically checked on a regular basis. Smokers are usually asked to quit because smoking can make the aneurysm get bigger. People who have other risk factors, such as high blood pressure or high blood lipid levels, are advised to seek treatment for those conditions. But it is not yet clear whether medication can slow the growth of the aneurysm and actually lower the risk of rupture . If the risk of rupture is high, surgery is the only preventive measure. There are two types of surgery for a large aneurysm : Open surgery through an abdominal incision (cut): The aneurysm is opened, and replaced by an artificial vessel (graft). Endovascular procedure through a small incision in the groin : A small tube (stent ) is put into the artery , pushed along to where the aneurysm is, and implanted in the aneurysm. Both of these procedures are associated with risks. Determining whether a surgical procedure is a good idea is a very personal decision: On the one hand there are risks, but on the other there is the possible danger of the aneurysm rupturing .

Drugs for Aortic Aneurysm, Familial Abdominal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872 150310
2
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
3
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
4
Atorvastatin Approved Phase 4 134523-00-5 60823
5
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
6
Atenolol Approved Phase 4 29122-68-7 2249
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
11
Morphine Approved, Investigational Phase 4 57-27-2 5288826
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13 Mineralocorticoids Phase 4
14 Mineralocorticoid Receptor Antagonists Phase 4
15 diuretics Phase 4
16 Neurotransmitter Agents Phase 4
17 Adrenergic Antagonists Phase 4
18 Sympatholytics Phase 4
19 Adrenergic beta-Antagonists Phase 4
20 Adrenergic Agents Phase 4
21 Adrenergic beta-1 Receptor Antagonists Phase 4
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
23 Platelet Aggregation Inhibitors Phase 4
24 Giapreza Phase 4
25 Angiotensin Receptor Antagonists Phase 4
26 Angiotensinogen Phase 4
27 Angiotensin II Type 1 Receptor Blockers Phase 4
28 Anticholesteremic Agents Phase 4
29 Antimetabolites Phase 4
30 Lipid Regulating Agents Phase 4
31 Hypolipidemic Agents Phase 4
32 Fluorodeoxyglucose F18 Phase 4
33 Anticoagulants Phase 4
34 Fibrinolytic Agents Phase 4
35 Protamines Phase 4
36 calcium heparin Phase 4
37 Analgesics, Non-Narcotic Phase 4
38 Analgesics Phase 4
39 Antirheumatic Agents Phase 4
40 Anti-Inflammatory Agents Phase 4
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4
42 Diuretics, Potassium Sparing Phase 4
43 Anti-Arrhythmia Agents Phase 4
44 Analgesics, Opioid Phase 4
45 Anesthetics, Local Phase 4
46 Narcotics Phase 4
47 Antipyretics Phase 4
48 Sodium Channel Blockers Phase 4
49
dipyrone Phase 4 522325
50
Acetaminophen Approved Phase 3 103-90-2 1983

Interventional clinical trials:

(show top 50) (show all 364)
# Name Status NCT ID Phase Drugs
1 Eplerenone in the Management of Abdominal Aortic Aneurysms: A Proof-Of-Concept Randomised Controlled Trial Unknown status NCT02345590 Phase 4 Eplerenone
2 Prophylactic Mesh Implantation After Abdominal Aortic Aneurysm Repair. A Prospective, Randomised, Controlled Study Unknown status NCT01353443 Phase 4
3 A Clinical Evaluation of the GORE EXCLUDER® Bifurcated Endoprosthesis - Low Permeability in the Primary Treatment of Infrarenal Abdominal Aortic Aneurysms Completed NCT00593814 Phase 4
4 TALENT Endoluminal Stent Graft System for the Treatment of Abdominal Aortic Aneurysms Completed NCT00803075 Phase 4
5 Study of the Effectiveness of Telmisartan in Slowing the Progression of Abdominal Aortic Aneurysms Completed NCT01683084 Phase 4 Telmisartan;Placebo
6 Randomised Controlled Trial of Effect of Pre-operative Statin Use on Matrix Metalloproteinases (MMP) & Tissue Inhibitors of Matrix Metalloproteinases (TIMP) in Abdominal Aortic Aneurysm (AAA). Completed NCT01062802 Phase 4 Atorvastatin
7 Comparison of Beta-blocker Versus Angiotensin Receptor Blocker for Suppression of Aneurysm Expansion in Patients With Small Abdominal Aortic Aneurysm and Hypertension (BASE Trial) Completed NCT01904981 Phase 4 Beta-blocker-Atenolol 50mg, PO(peroral), Once daily;Angiotensin receptor blocker-Valsartan 80mg, PO(peroral), Once daily
8 Noninvasive Assessment of Abdominal Aortic Aneurysm (AAA) Wall Structural Integrity and Inflammation as Predictors of Expansion and/or Rupture Completed NCT03231397 Phase 4 Assess AAA rupture risk by PET-CTA scans;18F-fludeoxyglucose (FDG)
9 CSP #498 - Open Versus Endovascular Repair (OVER) Trial for Abdominal Aortic Aneurysms Completed NCT00094575 Phase 4
10 Coagulopathy During Surgery for the Repair of Extent 4 Thoraco-Abdominal Aortic Aneurysms - Feasibility Study of the Use of Fibrinogen Concentrate by Infusion in Place of Fresh Frozen Plasma. Completed NCT00994045 Phase 4
11 Opioid-potentiated Volative Anaesthetic(Sevoflurane)Compared to Remifentanil and Propofol During Abdominal Aortic Aneurysm Surgery Completed NCT00538421 Phase 4 Propofol;Sevoflurane
12 Transversus Abdominis Plane (TAP) Block in Open Abdominal Aortic Surgery : Randomized Controlled Doubled-blind Trial Comparing Ropivacaine 0.2% Versus Placebo Completed NCT03657979 Phase 4 Ropivacaine;Placebo
13 Prevalence of Abdominal Aortic Aneurysm in Patients Undergoing Coronary Angiography Completed NCT01239225 Phase 4
14 Randomized Preventive Vascular Screening Trial of 65-74 Year Old Men in the Central Region of Denmark Recruiting NCT00662480 Phase 4
15 ACTION-1: ACT Guided Heparinization During Open Abdominal Aortic Aneurysm Repair, a Randomised Trial. Recruiting NCT04061798 Phase 4 ACT guided heparinization;5 000 IU of heparin
16 Trial Investigating ESAR (EVAR Plus Heli-FX EndoAnchors) and FEVAR for the Treatment of Aortic Aneurysms With Short Infrarenal Aortic Neck Not yet recruiting NCT04503395 Phase 4
17 Randomized, Double-blind, Placebo-controlled Single-centre Clinical Trial Evaluating Efficacy and Safety of Intraoperative and Postoperative Continuous Lidocaine Infusion in High Cardiac Risk Vascular Surgery Suspended NCT04691726 Phase 4 lidocaine 10mg/ml;Placebo;Metamizole;Morphine
18 Randomized Clinical Trial Comparing Surveillance and Selective Surgical Treatment for Abdominal Aortic Aneurysms Less Than 5.5 cm in Diameter Versus Early Endovascular Treatment Terminated NCT00118573 Phase 4
19 Expertise Based Randomized Controlled Trial of Open Versus Endovascular Repair of Abdominal Aortic Aneurysms: A Pilot Study Unknown status NCT00358085 Phase 3
20 Prospective, Multicenter, Single Arm Phase II Study of the Powerlink 34mm Cuff for the Endovascular Repair of Abdominal Aortic Aneurysms Unknown status NCT00706394 Phase 2, Phase 3
21 Efficacy of the Ultrasound-guidedTransversus Abdominis Plane (TAP) Block on Postoperative Pain Control in Open Aortic Abdominal Aneurysm Repair Surgery Unknown status NCT02292667 Phase 3 PCA with Chlorhydrate of Morphine;Acetaminophen
22 Curcumin to Prevent Perioperative Complications After Elective Abdominal Aortic Aneurysm Repair: a Randomized Controlled Trial Completed NCT01225094 Phase 2, Phase 3 curcumin
23 Endologix Powerlink Long-Term Follow-up Study Completed NCT00543270 Phase 2, Phase 3
24 The Effect of Tranexamic Acid in Ruptured Abdominal Aortic Aneurysms Completed NCT02125890 Phase 3 Tranexamic Acid
25 A Prospective, Multicenter Study of the Cordis Endovascular QUANTUM LP™ Stent Graft System for the Treatment of Abdominal Aortic Aneurysms (AAA)-FORTRON Completed NCT00233688 Phase 3
26 A Study to Assess the Acute Technical Success of Aorfix™ Stent Grafts in the Treatment of Abdominal Aortic and Aorto-Iliac Aneurysm Where a Significant Degree of Vessel Angulation Exists at the Neck of the Aneurysm Completed NCT00442065 Phase 2, Phase 3
27 Physician-Initiated Trial Investigating the BeGraft Peripheral Plus Stent Graft System as Bridging Stent in BEVAR for Complex Aortic Aneurysms Recruiting NCT03987035 Phase 3
28 A Prospective Randomized, Double Blind, Placebo-controlled, Safety and Efficacy Study of Metformin as add-on Therapy in Non-diabetic Patients With Abdominal Aortic Aneurysm (MetAAA Study) Enrolling by invitation NCT03507413 Phase 2, Phase 3 Metformin Glucophage 500mg (IR) tablets M90;Placebo Oral Tablet
29 Laparoscopic Aortic Resection Versus Open Surgery in Patients With AAA Withdrawn NCT00821145 Phase 3
30 Phase III of the Prospective, Non-randomized and Multicenter Clinical Evaluation of the Safety and Performance of the Modular AAA Stent-Graft System When Used in the Treatment of Subjects With Abdominal Aortic Aneurysms (AAA) Withdrawn NCT01368679 Phase 3
31 Brief Administration of Cyclosporine A to Induce the Stabilisation of the Diameter of Small Diameter Abdominal Aortic Aneurysms. Unknown status NCT02225756 Phase 2 Cyclosporine A;Cyclosporine A;Placebo
32 Prospective, Multicenter, Single Arm Feasibility and Safety Study of the Endologix Fenestrated Stent Graft System for the Endovascular Repair of Juxtarenal/Pararenal (JAA/PAA) Aneurysms Unknown status NCT01348828 Phase 2
33 Endologix Powerlink® Suprarenal Proximal Cuff Unknown status NCT00739401 Phase 2
34 An Evaluation of the Effect of an Angiotensin-converting Enzyme (ACE) Inhibitor on the Growth Rate of Small Abdominal Aortic Aneurysms. Completed NCT01118520 Phase 2 perindopril arginine;amlodipine 5mgs;placebo
35 A Clinical Study Evaluating the Use of the GORE EXCLUDER® AAA Endoprosthesis - 31mm In the Primary Treatment of Infrarenal Abdominal Aortic Aneurysms Completed NCT00615069 Phase 2
36 A Multicenter, Open Label, Prospective, Non-Randomized Study Of INCRAFT™ In Subjects With Abdominal Aortic Aneurysms Completed NCT01106391 Phase 2
37 Does Ticagrelor Inhibit Growth of Small Abdominal Aortic Aneurysms? A Randomised Controlled Trial (TicAAA) Completed NCT02070653 Phase 2 Ticagrelor;Placebo
38 Prospective, Multicenter, Randomized Controlled Trial of Endovascular Aneurysm Repair Using a Bilateral Percutaneous Approach (PEVAR) vs. Standard Approach (SEVAR) Using the IntuiTrak Endovascular AAA Delivery System and the Prostar XL or Perclose ProGlide Suture-Mediated Closure System Completed NCT01070069 Phase 2
39 An Evaluation of the Safety and Effectiveness of the Cordis Bilateral AAA Device Compared to Open Surgical Repair for the Treatment of Abdominal Aortic Aneurysm Completed NCT00235118 Phase 1, Phase 2
40 A Clinical Study to Evaluate the Safety and Performance of the TriVascular Ovation™ Abdominal Stent Graft System Completed NCT01097772 Phase 2
41 An International, Multi-centre, Randomised, Stratified, Double-blinded, Placebo-controlled, 4-parallel Group Trial Investigating the Efficacy and Safety of Three Different Dose Levels of CRD007 (The AORTA Trial) Completed NCT01354184 Phase 2 CRD007;CRD007 matching placebo
42 Non-Invasive Treatment of Abdominal Aortic Aneurysm Clinical Trial (N-TA^3CT) Completed NCT01756833 Phase 2 Doxycycline;Placebo
43 The Effect of Doxycycline on Matrix Metalloproteinase Expression and Activity in the Abdominal Aneurysm Completed NCT00538967 Phase 2 doxycycline
44 Comparative Study Between Psoas Compartment Block (PCB) Versus Local Anesthesia With Remifentanil Infusion for Endovascular Repair of Abdominal Aortic Aneurysm (EVAR): A Randomized Controlled Trial Completed NCT03443518 Phase 2 Normal saline 0.9% IV infusion;Remifentanil infusion
45 The Transfusion Triggers in Vascular Surgery Trial: Two Different Transfusion Triggers for Postoperative Haemoglobin Separation and Adherence to Transfusion Strategies in Vascular Surgery: a Randomised Clinical Feasibility Trial Completed NCT02465125 Phase 2
46 A Phase II Clinical Study of the Safety and Performance of the Treovance Stent-Graft With Navitel Delivery System for Patients With Infrarenal Abdominal Aortic Aneurysms Active, not recruiting NCT02009644 Phase 2
47 Aortic Wall Behavior as a Predictor of Aortic Aneurysm Growth and Rupture Active, not recruiting NCT02022436 Phase 2 contrast ultrasound
48 Metformin for AAA Growth Inhibition, a Randomized Controlled Trial Enrolling by invitation NCT04224051 Phase 2 Metformin
49 LIMItIng AAA With meTformin (LIMIT) Trial Not yet recruiting NCT04500756 Phase 2 Metformin
50 Targeted PET/CT and PET/MRI Imaging of Vascular Inflammation Not yet recruiting NCT02995642 Phase 2 18F-FPPRGD2

Search NIH Clinical Center for Aortic Aneurysm, Familial Abdominal, 1

Cochrane evidence based reviews: aortic aneurysm, abdominal

Genetic Tests for Aortic Aneurysm, Familial Abdominal, 1

Genetic tests related to Aortic Aneurysm, Familial Abdominal, 1:

# Genetic test Affiliating Genes
1 Abdominal Aortic Aneurysm 29

Anatomical Context for Aortic Aneurysm, Familial Abdominal, 1

The Foundational Model of Anatomy Ontology organs/tissues related to Aortic Aneurysm, Familial Abdominal, 1:

19
Abdominal Aorta

MalaCards organs/tissues related to Aortic Aneurysm, Familial Abdominal, 1:

40
Kidney, Smooth Muscle, Spinal Cord, Heart, Endothelial, Neutrophil, Colon

Publications for Aortic Aneurysm, Familial Abdominal, 1

Articles related to Aortic Aneurysm, Familial Abdominal, 1:

(show top 50) (show all 14564)
# Title Authors PMID Year
1
Elevated expression of matrix metalloproteinase-13 in abdominal aortic aneurysms. 54 61 57
15156361 2004
2
Possible key role for plasmin in the pathogenesis of abdominal aortic aneurysms. 54 57 61
8048013 1994
3
Matrix metalloproteinases in abdominal aortic aneurysm: characterization, purification, and their possible sources. 61 54 57
7956205 1994
4
Association of the TGF-beta receptor genes with abdominal aortic aneurysm. 61 57
19672284 2010
5
Regression of abdominal aortic aneurysm by inhibition of c-Jun N-terminal kinase. 57 61
16311603 2005
6
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. 57 61
15096456 2004
7
Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms. 57 54
10558909 1999
8
Peripheral aneurysms and arteriomegaly: is there a familial pattern? 57 61
9786252 1998
9
Sibling risks of abdominal aortic aneurysm. 61 57
7651004 1995
10
Abdominal aortic aneurysm in the Irish population: a familial screening study. 57 61
7613891 1995
11
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees. 61 57
7707569 1995
12
Abdominal aortic aneurysm. 57 61
8455684 1993
13
Abdominal aortic aneurysm. Report of a meeting of physicians and scientists, University College London Medical School. 57 61
8093508 1993
14
On the inheritance of abdominal aortic aneurysm. 57 61
1985458 1991
15
Oxford screening programme for abdominal aortic aneurysm in men aged 65 to 74 years. 57 61
2900988 1988
16
Familial tendency for abdominal aortic aneurysms. 57 61
3761500 1986
17
Aneurysms of the abdominal aorta. Incidence in blacks and whites in North Carolina. 57 61
4038055 1985
18
Familial abdominal aortic aneurysms. 61 57
588966 1977
19
Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. 57
19497516 2009
20
Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. 57
15944607 2005
21
Prospects for the medical management of abdominal aortic aneurysms. 57
12799723 2003
22
Familial abdominal aortic aneurysms: collection of 233 multiplex families. 57
12563204 2003
23
Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. 57
10805895 2000
24
The incidence of iliac, femoral, and popliteal artery aneurysms in hospitalized patients. 57
7563401 1995
25
Aortic aneurysmal disease. A generalized dilating diathesis. 57
1642543 1992
26
Are familial abdominal aortic aneurysms different? 57
2787414 1989
27
Abdominal aortic aneurysms in identical twins. 57
3047388 1988
28
Familial abdominal aortic aneurysms. 57
3418662 1988
29
Familial aortic aneurysms: serum concentrations of triglyceride, cholesterol, HDL-cholesterol and (VLDL + LDL)-cholesterol. 57
3855680 1985
30
Familial occurrence of abdominal aortic aneurysms. 57
6729702 1984
31
Fifty families with abdominal aortic aneurysms in two or more first-order relatives. 57
6538765 1984
32
Arteriomegaly: classification and morbid implications of diffuse aneurysmal disease. 57
6845177 1983
33
Association of PPARgamma allelic variation, osteoprotegerin and abdominal aortic aneurysm. 61 54
19438902 2010
34
A novel rat model of abdominal aortic aneurysm using a combination of intraluminal elastase infusion and extraluminal calcium chloride exposure. 54 61
19958989 2009
35
Immune cells and molecular mediators in the pathogenesis of the abdominal aortic aneurysm. 54 61
19690470 2009
36
Circulating matrix metalloproteinase-9 concentrations and abdominal aortic aneurysm presence: a meta-analysis. 61 54
19525292 2009
37
Matrix metalloproteinase-2 gene variants and abdominal aortic aneurysm. 61 54
19515587 2009
38
Differential effect of 17-beta-estradiol on smooth muscle cell and aortic explant MMP2. 61 54
19041098 2009
39
Doxycycline therapy for abdominal aneurysm: Improved proteolytic balance through reduced neutrophil content. 54 61
19268776 2009
40
Evolving mechanical properties of a model of abdominal aortic aneurysm. 61 54
18058143 2009
41
Azelnidipine decreases plasma matrix metalloproteinase-9 levels after endovascular abdominal aortic aneurysm repair. 54 61
20103998 2009
42
Characterisation of Interleukin-8 and monocyte chemoattractant protein-1 expression within the abdominal aortic aneurysm and their association with mural inflammation. 61 54
19008128 2009
43
Interaction between angiotensin II, osteoprotegerin, and peroxisome proliferator-activated receptor-gamma in abdominal aortic aneurysm. 61 54
18931513 2009
44
Elastin degradation within the abdominal aortic aneurysm wall--relationship between intramural pH and adjacent thrombus formation. 61 54
19021711 2008
45
Polymorphisms of the matrix metalloproteinase 9 gene and abdominal aortic aneurysm. 54 61
18763261 2008
46
Pravastatin increases the expression of the tissue inhibitor of matrix metalloproteinase-1 and the oncogene Bax in human aortic abdominal aneurysms. 61 54
18641692 2008
47
Elevated plasma MMP1 and MMP9 are associated with abdominal aortic aneurysm rupture. 61 54
18226564 2008
48
Low molecular weight heparin treatment decreases MMP-9 plasma activity in patients with abdominal aortic aneurysm. 61 54
17964826 2008
49
Tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphisms in a Caucasian population with abdominal aortic aneurysm. 54 61
17899257 2007
50
Preservation of rabbit aorta elastin from degradation by gingival fibroblasts in an ex vivo model. 61 54
17641251 2007

Variations for Aortic Aneurysm, Familial Abdominal, 1

ClinVar genetic disease variations for Aortic Aneurysm, Familial Abdominal, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYLK NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val) SNV Likely benign 180446 rs202177283 GRCh37: 3:123357035-123357035
GRCh38: 3:123638188-123638188

Expression for Aortic Aneurysm, Familial Abdominal, 1

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Abdominal, 1.

Pathways for Aortic Aneurysm, Familial Abdominal, 1

Pathways related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
2
Show member pathways
13.31 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
3
Show member pathways
12.35 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
4
Show member pathways
12.21 MMP9 MMP3 MMP1 CCL2
5
Show member pathways
12.19 TIMP1 MMP3 MMP1 CCL2
6 12.08 MMP9 MMP2 MMP12 MMP1
7 11.9 TIMP1 MMP9 MMP3 MMP2 MMP1 CCL2
8 11.84 MMP9 MMP3 CCL2
9 11.75 TIMP2 TIMP1 MMP9 MMP3 MMP2 CCL2
10 11.74 MMP3 MMP1 CCL2
11 11.62 MMP9 MMP2 MMP1
12 11.6 TIMP1 MMP9 MMP2 ELN CCL2
13
Show member pathways
11.58 MMP9 MMP3 MMP2 MMP1
14 11.49 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP12
15 11.4 MMP9 MMP2 ELANE
16 11.32 TIMP2 MMP9 MMP3 MMP1 ELN ELANE
17 11.29 MMP9 MMP2 MMP1 CCL2
18
Show member pathways
11.27 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
19 11.22 MMP9 MMP2 CCL2
20 11.13 TIMP2 TIMP1 MMP9 CCL2
21 11.06 MMP9 MMP2 CST3
22 10.95 TIMP1 MMP1 CCL2
23 10.9 TIMP2 TIMP1 FBN1 ELN CCL2
24 10.84 MMP9 MMP1

GO Terms for Aortic Aneurysm, Familial Abdominal, 1

Cellular components related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
2 collagen-containing extracellular matrix GO:0062023 9.8 ELANE ELN FBN1 MMP2 MMP8 MMP9
3 extracellular space GO:0005615 9.73 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
4 tertiary granule lumen GO:1904724 9.62 CST3 MMP8 MMP9 TIMP2
5 specific granule lumen GO:0035580 9.54 ELANE MMP8 TIMP2
6 extracellular matrix GO:0031012 9.32 ELN FBN1 MMP1 MMP12 MMP2 MMP3

Biological processes related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.98 ELANE MMP1 MMP12 MMP2 MMP3 MMP8
2 neutrophil degranulation GO:0043312 9.92 CST3 ELANE MMP8 MMP9 TIMP2
3 extracellular matrix organization GO:0030198 9.86 ELN FBN1 MMP1 MMP12 MMP2 MMP3
4 cellular protein metabolic process GO:0044267 9.85 CST3 FBN1 MMP1 MMP2 TIMP1
5 cytokine-mediated signaling pathway GO:0019221 9.85 CCL2 MMP1 MMP2 MMP3 MMP9 TIMP1
6 endodermal cell differentiation GO:0035987 9.65 MMP2 MMP8 MMP9
7 collagen catabolic process GO:0030574 9.63 MMP1 MMP12 MMP2 MMP3 MMP8 MMP9
8 response to amyloid-beta GO:1904645 9.62 MMP12 MMP2 MMP3 MMP9
9 regulation of neuroinflammatory response GO:0150077 9.58 MMP3 MMP8 MMP9
10 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.54 H19 MMP8
11 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.51 TIMP1 TIMP2
12 negative regulation of metallopeptidase activity GO:1905049 9.49 TIMP1 TIMP2
13 cellular response to UV-A GO:0071492 9.35 MMP1 MMP2 MMP3 MMP9 TIMP1
14 extracellular matrix disassembly GO:0022617 9.28 MMP1 ELANE MMP12 MMP2 MMP3 MMP8

Molecular functions related to Aortic Aneurysm, Familial Abdominal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.97 MMP1 MMP12 MMP2 MMP3 MMP8 MMP9
2 peptidase activity GO:0008233 9.87 ELANE MMP1 MMP12 MMP2 MMP3 MMP8
3 serine-type endopeptidase activity GO:0004252 9.73 ELANE MMP1 MMP2 MMP3 MMP8 MMP9
4 protease binding GO:0002020 9.71 CST3 ELANE TIMP1 TIMP2
5 metallopeptidase activity GO:0008237 9.63 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
6 metalloendopeptidase inhibitor activity GO:0008191 9.46 TIMP1 TIMP2
7 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN1 ELN
8 metalloendopeptidase activity GO:0004222 9.43 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
9 endopeptidase activity GO:0004175 9.17 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1

Sources for Aortic Aneurysm, Familial Abdominal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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