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 56
Abdominal Aortic Aneurysm 56 12 74 52 3 15 62 17
Aortic Aneurysm, Familial Abdominal 1 56 12 13
Aneurysm, Abdominal Aortic 56 52
Aortic Aneurysm, Abdominal 43 71
Aaa 56 73
Familial Abdominal Aortic Aneurysm 1 6
Aortic Aneurysm, Familial Abdominal 73
Aneurysm, Abdominal Aortic; Aaa 56
Abdominal Aortic Aneurysms 15
Aortic Aneurysm Abdominal 54
Aaa Syndrome 74
Aaa1 56



autosomal dominant vs. recessive at an autosomal major locus or multifactorial
col3a1 gene (120180.0004) mutations cause about 2%




External Ids:

Disease Ontology 12 DOID:7693
OMIM 56 100070
OMIM Phenotypic Series 56 PS100070
MeSH 43 D017544
NCIt 49 C27000
SNOMED-CT 67 233985008
ICD10 32 I71.4
SNOMED-CT via HPO 68 258211005 263681008
UMLS 71 C0162871

Summaries for Aortic Aneurysm, Familial Abdominal, 1

NIH Rare Diseases : 52 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 carotid stenosis. An important gene associated with Aortic Aneurysm, Familial Abdominal, 1 is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. The drugs Eplerenone and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include abdominal aorta, kidney and heart, and related phenotypes are abdominal aortic aneurysm and immune system

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

OMIM : 56 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)

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 : 73 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 : 74 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 798)
# Related Disease Score Top Affiliating Genes
1 familial abdominal aortic aneurysm 35.0 FBN1 ELN
2 carotid stenosis 31.6 MMP9 MMP1 CDKN2B-AS1
3 hydronephrosis 31.6 TIMP1 MMP9 FBN1 CCL2
4 proteasome-associated autoinflammatory syndrome 1 31.4 MMP9 ELANE CCL2
5 homocysteinemia 31.2 H19 FBN1 ELN CST3 CCL2
6 intracranial aneurysm 31.2 MMP2 ELN CDKN2B-AS1 CCL2
7 pulmonary disease, chronic obstructive 31.1 TIMP1 MMP9 MMP8 MMP12 MMP1 ELN
8 aneurysm 31.1 MMP12 FBN1 ELN CDKN2B-AS1
9 takayasu arteritis 31.0 MMP9 MMP3 MMP2
10 cerebral aneurysms 31.0 MMP2 ELN ELANE CST3 CCL2
11 moyamoya disease 1 30.9 TIMP2 MMP9 ELN
12 appendicitis 30.8 TIMP1 MMP9 MMP8 MMP3 CCL2
13 septic arthritis 30.8 MMP3 MMP2 MMP1
14 peritonitis 30.8 MMP8 ELANE CCL2
15 vascular disease 30.8 TIMP1 MMP9 MMP3 ELN CST3 CCL2
16 carotid artery disease 30.8 TIMP1 MMP9 MMP8 MMP3 MMP1 CCL2
17 gallbladder cancer 30.8 TIMP2 MMP9 MMP2 H19 CDKN2B-AS1
18 bladder cancer 30.8 TIMP2 PLAU MMP9 MMP2 MMP1 H19
19 amaurosis fugax 30.7 MMP9 MMP8
20 exfoliation syndrome 30.7 MMP3 MMP1 FBN1 ELN
21 kawasaki disease 30.7 TIMP1 MMP9 MMP3 ELANE CCL2
22 aortic valve disease 2 30.7 MIR29B1 FBN1 ELN
23 coronary aneurysm 30.7 MMP9 MMP3
24 cerebral arterial disease 30.7 MMP9 ELN CDKN2B-AS1
25 arteriovenous malformation 30.6 MMP9 MMP3 MMP2
26 pneumonia 30.6 MMP9 MMP8 MMP12 ELANE CCL2
27 periodontitis, chronic 30.6 MMP8 MMP1
28 intraocular pressure quantitative trait locus 30.6 TIMP2 MMP1 FBN1 ELN CDKN2B-AS1
29 cardiovascular system disease 30.6 MIR29B1 ELN CST3 CDKN2B-AS1 CCL2
30 scoliosis 30.6 TIMP2 TIMP1 MMP9 MMP3 FBN1 ELN
31 lymphangioleiomyomatosis 30.5 MMP9 MMP2 MMP1 ELN
32 glaucoma, primary open angle 30.5 FBN1 ELN CDKN2B-AS1
33 systolic heart failure 30.5 TIMP1 MMP9 MMP2 CST3
34 bronchitis 30.5 MMP9 MMP12 ELANE
35 alpha-1-antitrypsin deficiency 30.5 MMP12 MMP1 ELN ELANE
36 heart disease 30.5 MMP9 MMP3 H19 FBN1 ELN CST3
37 pneumothorax 30.5 TIMP2 TIMP1 MMP9 MMP2 MMP1 FBN1
38 periodontitis 30.5 TIMP1 MMP9 MMP8 MMP3 MMP2 MMP1
39 adenocarcinoma 30.5 TIMP2 TIMP1 MMP9 MMP2 H19
40 arteriosclerosis 30.4 TIMP1 MMP9 FBN1 ELN CST3 CCL2
41 pseudoxanthoma elasticum 30.4 MMP9 MMP3 MMP2 FBN1 ELN
42 heart valve disease 30.4 MIR29B1 MIR191 FBN1 ELN
43 limb ischemia 30.4 TIMP2 TIMP1 MMP9 MMP2 CCL2
44 dilated cardiomyopathy 30.3 TIMP2 TIMP1 MMP9 MMP3 MMP2 MMP1
45 peripheral artery disease 30.3 CST3 CDKN2B-AS1 CCL2
46 esophageal cancer 30.3 TIMP2 TIMP1 PLAU MMP9 MMP3 MMP2
47 atherosclerosis susceptibility 30.2 MMP9 H19 ELN CDKN2B-AS1 CCL2
48 aortic disease 30.2 MMP9 MMP2 MIR29B1 MIR191 MIR15A FBN1
49 spinal stenosis 30.2 TIMP2 TIMP1 MMP3 MMP2 MMP1
50 aortic valve disease 1 30.2 TIMP2 TIMP1 MMP9 MMP2 MIR29B1 H19

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:

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

Symptoms via clinical synopsis from OMIM:

abdominal aortic aneurysm
generalized dilating diathesis

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

Clinical features from OMIM:


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

# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.73 CCL2 ELANE FBN1 MMP1 MMP12 MMP2
2 neoplasm MP:0002006 9.23 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 192)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Eplerenone Approved Phase 4 107724-20-9 150310 443872
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
Remifentanil Approved Phase 4 132875-61-7 60815
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
Atenolol Approved Phase 4 29122-68-7 2249
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Tranexamic Acid Approved Phase 4 1197-18-8 5526
Nicotine Approved Phase 4 54-11-5 942 89594
Atorvastatin Approved Phase 4 134523-00-5 60823
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
16 Mineralocorticoids Phase 4
17 Mineralocorticoid Receptor Antagonists Phase 4
18 diuretics Phase 4
19 Diuretics, Potassium Sparing Phase 4
20 Pharmaceutical Solutions Phase 4
21 Hydroxyethyl Starch Derivatives Phase 4
22 Anticonvulsants Phase 4
23 Carbonic Anhydrase Inhibitors Phase 4
24 Analgesics, Opioid Phase 4
25 Platelet Aggregation Inhibitors Phase 4
26 Angiotensin II Type 1 Receptor Blockers Phase 4
27 Angiotensinogen Phase 4
28 Angiotensin Receptor Antagonists Phase 4
29 Giapreza Phase 4
30 Adrenergic beta-Antagonists Phase 4
31 Adrenergic beta-1 Receptor Antagonists Phase 4
32 Sympatholytics Phase 4
33 Adrenergic Antagonists Phase 4
34 Anti-Arrhythmia Agents Phase 4
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
36 Hemostatics Phase 4
37 Coagulants Phase 4
38 Antifibrinolytic Agents Phase 4
39 Radiopharmaceuticals Phase 4
40 Hypolipidemic Agents Phase 4
41 Lipid Regulating Agents Phase 4
42 Anticholesteremic Agents Phase 4
43 Antimetabolites Phase 4
44 Fluorodeoxyglucose F18 Phase 4
45 calcium heparin Phase 4
46 Fibrinolytic Agents Phase 4
47 Protamines Phase 4
48 Anticoagulants Phase 4
49 Hypnotics and Sedatives Phase 4
50 Neurotransmitter Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 421)
# 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 Study Using Plasma for Patients Requiring Emergency Surgery: A Randomized Pilot Trial of Early Plasma for Patients Undergoing Emergency Surgery for Hemorrhagic Shock Unknown status NCT01221389 Phase 4 Human Plasma
4 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
5 Opioid-potentiated Volative Anaesthetic(Sevoflurane)Compared to Remifentanil and Propofol During Abdominal Aortic Aneurysm Surgery Completed NCT00538421 Phase 4 Propofol;Sevoflurane
6 Study of the Effectiveness of Telmisartan in Slowing the Progression of Abdominal Aortic Aneurysms Completed NCT01683084 Phase 4 Telmisartan;Placebo
7 A Clinical Evaluation of the GORE EXCLUDER® Bifurcated Endoprosthesis - Low Permeability in the Primary Treatment of Infrarenal Abdominal Aortic Aneurysms Completed NCT00593814 Phase 4
8 TALENT Endoluminal Stent Graft System for the Treatment of Abdominal Aortic Aneurysms Completed NCT00803075 Phase 4
9 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
10 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
11 CSP #498 - Open Versus Endovascular Repair (OVER) Trial for Abdominal Aortic Aneurysms Completed NCT00094575 Phase 4
12 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
13 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
14 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)
15 Prevalence of Abdominal Aortic Aneurysm in Patients Undergoing Coronary Angiography Completed NCT01239225 Phase 4
16 Randomized Trial of Pulsatile vs Non Pulsatile Perfusion on Short Term Changes in Kidney Function Using an Intra-Aortic Ballooon Pump During Cardioplegic Arrest in Patients Undergoing Myocardial Reperfusion Completed NCT00454428 Phase 4
17 Tranexamic Acid in Major Vascular Surgery. A Randomized Placebo-controlled Trial. Completed NCT02335359 Phase 4 tranexamic acid diluted in 100 ml of saline solution (loading dose);tranexamic acid undiluted (continous infusion);Placebo
18 Atorvastatin 80mg Versus Atorvastatin 20mg in Perioperative Vascular Surgery to Evaluate Cardiovascular Outcomes Completed NCT00610545 Phase 4 Atorvastatin;Atorvastatin
19 Impact of Carotid Plaque Screening on Smoking Cessation and Control of Other Cardiovascular Risk Factors: A Randomized Controlled Trial. Completed NCT00548665 Phase 4
20 Physician-Initiated PMCF Trial Investigating the BeGraft Peripheral Stent Graft System for the Treatment of Iliac Lesions Completed NCT02211716 Phase 4
21 Randomized Preventive Vascular Screening Trial of 65-74 Year Old Men in the Central Region of Denmark Recruiting NCT00662480 Phase 4
22 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
23 Pilot Study of of Renal Arterial Sympathetic Denervation by Cryotherapy During Open Surgery for Aortic Aneurysm Active, not recruiting NCT02345603 Phase 4
24 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
25 Phase 4 Study of Dexmedetomidine for Postoperative Sedation in Patients Undergoing Repair of Thoracoabdominal Aortic Aneurysms Terminated NCT00409344 Phase 4 Dexmedetomidine
26 Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Withdrawn NCT01107366 Phase 4
27 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
28 Expertise Based Randomized Controlled Trial of Open Versus Endovascular Repair of Abdominal Aortic Aneurysms: A Pilot Study Unknown status NCT00358085 Phase 3
29 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
30 Magnetic Resonance Imaging of Aortic Aneurysm Instability Unknown status NCT00794092 Phase 2, Phase 3 Sinerem administration
31 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
32 Endologix Powerlink Long-Term Follow-up Study Completed NCT00543270 Phase 2, Phase 3
33 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
34 The Effect of Tranexamic Acid in Ruptured Abdominal Aortic Aneurysms Completed NCT02125890 Phase 3 Tranexamic Acid
35 Curcumin to Prevent Perioperative Complications After Elective Abdominal Aortic Aneurysm Repair: a Randomized Controlled Trial Completed NCT01225094 Phase 2, Phase 3 curcumin
36 Primary Mesh Closure of Abdominal Midline Wounds; a Prospective Randomized Multicenter Trial Completed NCT00761475 Phase 3
37 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
38 Laparoscopic Aortic Resection Versus Open Surgery in Patients With AAA Withdrawn NCT00821145 Phase 3
39 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
40 Endologix Powerlink® Suprarenal Proximal Cuff Unknown status NCT00739401 Phase 2
41 Prospective, Multicenter, Single Arm Safety and Effectiveness Trial of the Endologix Fenestrated Stent Graft System for the Endovascular Repair of Juxtarenal/Pararenal (JAA/PAA) Aneurysms Unknown status NCT01491945 Phase 2
42 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
43 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
44 An Open Label, Non-comparative Phase II Trial to Evaluate the Effects of Atorvastatin on the Persistent Coronary Arterial Aneurysm in Children With Kawasaki Disease: Safety and Efficacy Unknown status NCT02114099 Phase 2 Atorvastatin
45 Evaluation de la rhAnnexine V-128 radiomarquée Dans le Diagnostic de l'Endocardite Infectieuse, du Thrombus Atrial et de Leurs Complications Emboliques associées Unknown status NCT02459613 Phase 1, Phase 2
46 ASSESSMENT OF CELLULAR INFLAMMATION FOLLOWING ACUTE MYOCARDIAL INFARCTION Application Of Ultrasmall Superparamagnetic Particles Of Iron Oxide Unknown status NCT01995799 Phase 2
47 A Multicenter, Open Label, Prospective, Non-Randomized Study Of INCRAFT™ In Subjects With Abdominal Aortic Aneurysms Completed NCT01106391 Phase 2
48 A Clinical Study to Evaluate the Safety and Performance of the TriVascular Ovation™ Abdominal Stent Graft System Completed NCT01097772 Phase 2
49 Does Ticagrelor Inhibit Growth of Small Abdominal Aortic Aneurysms? A Randomised Controlled Trial (TicAAA) Completed NCT02070653 Phase 2 Ticagrelor;Placebo
50 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

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

Anatomical Context for Aortic Aneurysm, Familial Abdominal, 1

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

Abdominal Aorta

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

Kidney, Heart, Smooth Muscle, Colon, Testes, Spinal Cord, Neutrophil

Publications for Aortic Aneurysm, Familial Abdominal, 1

Articles related to Aortic Aneurysm, Familial Abdominal, 1:

(show top 50) (show all 13970)
# Title Authors PMID Year
Elevated expression of matrix metalloproteinase-13 in abdominal aortic aneurysms. 54 56 61
15156361 2004
Possible key role for plasmin in the pathogenesis of abdominal aortic aneurysms. 56 61 54
8048013 1994
Matrix metalloproteinases in abdominal aortic aneurysm: characterization, purification, and their possible sources. 54 61 56
7956205 1994
Association of the TGF-beta receptor genes with abdominal aortic aneurysm. 56 61
19672284 2010
Regression of abdominal aortic aneurysm by inhibition of c-Jun N-terminal kinase. 56 61
16311603 2005
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. 61 56
15096456 2004
Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms. 56 54
10558909 1999
Peripheral aneurysms and arteriomegaly: is there a familial pattern? 56 61
9786252 1998
Sibling risks of abdominal aortic aneurysm. 61 56
7651004 1995
Abdominal aortic aneurysm in the Irish population: a familial screening study. 56 61
7613891 1995
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees. 56 61
7707569 1995
Abdominal aortic aneurysm. 61 56
8455684 1993
Abdominal aortic aneurysm. Report of a meeting of physicians and scientists, University College London Medical School. 61 56
8093508 1993
On the inheritance of abdominal aortic aneurysm. 61 56
1985458 1991
Oxford screening programme for abdominal aortic aneurysm in men aged 65 to 74 years. 56 61
2900988 1988
Familial tendency for abdominal aortic aneurysms. 61 56
3761500 1986
Aneurysms of the abdominal aorta. Incidence in blacks and whites in North Carolina. 56 61
4038055 1985
Familial abdominal aortic aneurysms. 56 61
588966 1977
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. 56
19497516 2009
Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. 56
15944607 2005
Prospects for the medical management of abdominal aortic aneurysms. 56
12799723 2003
Familial abdominal aortic aneurysms: collection of 233 multiplex families. 56
12563204 2003
Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. 56
10805895 2000
The incidence of iliac, femoral, and popliteal artery aneurysms in hospitalized patients. 56
7563401 1995
Aortic aneurysmal disease. A generalized dilating diathesis. 56
1642543 1992
Are familial abdominal aortic aneurysms different? 56
2787414 1989
Abdominal aortic aneurysms in identical twins. 56
3047388 1988
Familial abdominal aortic aneurysms. 56
3418662 1988
Familial aortic aneurysms: serum concentrations of triglyceride, cholesterol, HDL-cholesterol and (VLDL + LDL)-cholesterol. 56
3855680 1985
Familial occurrence of abdominal aortic aneurysms. 56
6729702 1984
Fifty families with abdominal aortic aneurysms in two or more first-order relatives. 56
6538765 1984
Arteriomegaly: classification and morbid implications of diffuse aneurysmal disease. 56
6845177 1983
Association of PPARgamma allelic variation, osteoprotegerin and abdominal aortic aneurysm. 54 61
19438902 2010
A novel rat model of abdominal aortic aneurysm using a combination of intraluminal elastase infusion and extraluminal calcium chloride exposure. 61 54
19958989 2009
Immune cells and molecular mediators in the pathogenesis of the abdominal aortic aneurysm. 61 54
19690470 2009
Circulating matrix metalloproteinase-9 concentrations and abdominal aortic aneurysm presence: a meta-analysis. 54 61
19525292 2009
Matrix metalloproteinase-2 gene variants and abdominal aortic aneurysm. 54 61
19515587 2009
Differential effect of 17-beta-estradiol on smooth muscle cell and aortic explant MMP2. 61 54
19041098 2009
Doxycycline therapy for abdominal aneurysm: Improved proteolytic balance through reduced neutrophil content. 61 54
19268776 2009
Evolving mechanical properties of a model of abdominal aortic aneurysm. 61 54
18058143 2009
Azelnidipine decreases plasma matrix metalloproteinase-9 levels after endovascular abdominal aortic aneurysm repair. 54 61
20103998 2009
Interaction between angiotensin II, osteoprotegerin, and peroxisome proliferator-activated receptor-gamma in abdominal aortic aneurysm. 61 54
18931513 2009
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
Elastin degradation within the abdominal aortic aneurysm wall--relationship between intramural pH and adjacent thrombus formation. 54 61
19021711 2008
Polymorphisms of the matrix metalloproteinase 9 gene and abdominal aortic aneurysm. 61 54
18763261 2008
Pravastatin increases the expression of the tissue inhibitor of matrix metalloproteinase-1 and the oncogene Bax in human aortic abdominal aneurysms. 54 61
18641692 2008
Elevated plasma MMP1 and MMP9 are associated with abdominal aortic aneurysm rupture. 61 54
18226564 2008
Low molecular weight heparin treatment decreases MMP-9 plasma activity in patients with abdominal aortic aneurysm. 54 61
17964826 2008
Tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphisms in a Caucasian population with abdominal aortic aneurysm. 61 54
17899257 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 GRCh37 Pos GRCh38 Pos
1 MYLK NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val)SNV Likely benign 180446 rs202177283 3:123357035-123357035 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 28)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
5 12.43 PLAU MMP9 MIR29B1 MIR15A
Show member pathways
12.23 MMP9 MMP3 MMP1 CCL2
Show member pathways
9 12.09 MMP9 MMP2 MMP12 MMP1
10 11.97 TIMP1 MMP9 MMP3 MMP2 MMP1 CCL2
11 11.86 MMP9 MMP3 CCL2
12 11.83 TIMP2 TIMP1 MMP9 MMP3 MMP2 CCL2
13 11.76 MMP3 MMP1 CCL2
14 11.64 MMP9 MMP2 MMP1
Show member pathways
11.61 MMP9 MMP3 MMP2 MMP1
Show member pathways
11.39 PLAU MMP9 MMP2
21 11.3 PLAU MMP9 MMP2 MMP1 CCL2
Show member pathways
23 11.23 MMP9 MMP2 CCL2
24 11.16 TIMP2 TIMP1 MMP9 CCL2
25 11.07 MMP9 MMP2 CST3
26 10.98 TIMP1 MMP1 CCL2
27 10.92 TIMP2 TIMP1 FBN1 ELN CCL2
28 10.86 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 10 TIMP2 TIMP1 PLAU MMP9 MMP8 MMP3
2 extracellular space GO:0005615 9.83 TIMP2 TIMP1 PLAU MMP9 MMP8 MMP3
3 collagen-containing extracellular matrix GO:0062023 9.8 TIMP2 MMP9 MMP8 MMP2 FBN1 ELN
4 tertiary granule lumen GO:1904724 9.62 TIMP2 MMP9 MMP8 CST3
5 basement membrane GO:0005604 9.58 TIMP1 FBN1 CST3
6 specific granule lumen GO:0035580 9.54 TIMP2 MMP8 ELANE
7 extracellular matrix GO:0031012 9.32 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.95 TIMP2 PLAU MMP9 MMP8 CST3 ELANE
2 proteolysis GO:0006508 9.92 PLAU MMP9 MMP8 MMP3 MMP2 MMP12
3 cytokine-mediated signaling pathway GO:0019221 9.88 TIMP1 MMP9 MMP3 MMP2 MMP1 CCL2
4 positive regulation of cell migration GO:0030335 9.85 CDKN2B-AS1 PLAU MMP9 MIR29B1
5 cellular protein metabolic process GO:0044267 9.85 TIMP1 MMP2 MMP1 FBN1 CST3
6 extracellular matrix organization GO:0030198 9.76 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
7 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.7 MIR29B1 CCL2 MIR15A
8 embryo implantation GO:0007566 9.69 MMP9 MMP2 CST3
9 endodermal cell differentiation GO:0035987 9.67 MMP9 MMP8 MMP2
10 regulation of neuroinflammatory response GO:0150077 9.61 MMP9 MMP8 MMP3
11 cell activation GO:0001775 9.56 CST3 TIMP1
12 response to amyloid-beta GO:1904645 9.56 MMP3 MMP2 MMP12 MMP9
13 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.54 TIMP2 TIMP1
14 negative regulation of metallopeptidase activity GO:1905049 9.54 TIMP2 TIMP1 MIR29B1
15 collagen catabolic process GO:0030574 9.43 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
16 extracellular matrix disassembly GO:0022617 9.28 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.03 PLAU MMP9 MMP8 MMP3 MMP2 MMP12
2 zinc ion binding GO:0008270 9.97 TIMP2 TIMP1 MMP9 MMP8 MMP3 MMP2
3 peptidase activity GO:0008233 9.92 PLAU MMP9 MMP8 MMP3 MMP2 MMP12
4 metallopeptidase activity GO:0008237 9.73 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
5 protease binding GO:0002020 9.71 TIMP2 TIMP1 ELANE CST3
6 metalloendopeptidase activity GO:0004222 9.63 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1
7 serine-type endopeptidase activity GO:0004252 9.5 PLAU MMP9 MMP8 MMP3 MMP2 MMP1
8 metalloendopeptidase inhibitor activity GO:0008191 9.48 TIMP2 TIMP1
9 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN1 ELN
10 endopeptidase activity GO:0004175 9.17 MMP9 MMP8 MMP3 MMP2 MMP12 MMP1

Sources for Aortic Aneurysm, Familial Abdominal, 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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