AAA1
MCID: ART138
MIFTS: 66

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 58
Abdominal Aortic Aneurysm 58 12 77 54 3 15 64 17
Aortic Aneurysm, Familial Abdominal 1 58 12 13
Aneurysm, Abdominal Aortic 58 54
Aortic Aneurysm, Abdominal 45 74
Aaa 58 76
Familial Abdominal Aortic Aneurysm 1 6
Aortic Aneurysm, Familial Abdominal 76
Aneurysm, Abdominal Aortic; Aaa 58
Aortic Aneurysm Abdominal 56
Aaa1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant vs. recessive at an autosomal major locus or multifactorial
col3a1 gene (120180.0004) mutations cause about 2%


HPO:

33

Classifications:



External Ids:

Disease Ontology 12 DOID:7693
OMIM 58 100070
MeSH 45 D017544
NCIt 51 C27000
ICD10 34 I71.4
SNOMED-CT via HPO 70 258211005 263681008
UMLS 74 C0162871

Summaries for Aortic Aneurysm, Familial Abdominal, 1

NIH Rare Diseases : 54 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 inheritedsyndrome. 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 aortic aneurysm. 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 Integrin Pathway. The drugs Angiotensin II and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and smooth muscle, and related phenotypes are abdominal aortic aneurysm and homeostasis/metabolism

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

OMIM : 58 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.

UniProtKB/Swiss-Prot : 76 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 : 64 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 : 77 Abdominal aortic aneurysm (AAA or triple A) is a localized enlargement of the abdominal aorta such that... 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 395)
# Related Disease Score Top Affiliating Genes
1 familial abdominal aortic aneurysm 34.7 ELN FBN1
2 aortic aneurysm 33.4 CDKN2B-AS1 ELN FBN1
3 aortic aneurysm, familial thoracic 1 33.0 ELN FBN1 MMP1 MMP2
4 carotid stenosis 31.2 CDKN2B-AS1 MMP1 MMP9
5 atherosclerosis susceptibility 31.1 CCL2 CDKN2B-AS1 H19
6 intracranial aneurysm 31.0 CDKN2B-AS1 ELN MMP2
7 ischemic colitis 30.9 MMP2 MMP9
8 inguinal hernia 30.8 ELN FBN1 MMP1 MMP2 MMP9 TIMP1
9 coronary artery aneurysm 30.8 CCL2 MMP1 MMP12 MMP3
10 myocardial infarction 30.7 CCL2 CDKN2B-AS1 CST3 MMP2 MMP3 MMP9
11 appendicitis 30.7 MMP8 MMP9 TIMP1
12 exfoliation syndrome 30.6 ELN FBN1 MMP1
13 pulmonary disease, chronic obstructive 30.6 CCL2 ELANE ELN MMP1 MMP12 MMP9
14 arteriosclerosis 30.6 CCL2 ELN MMP9
15 cerebral arterial disease 30.5 CDKN2B-AS1 ELN MMP9
16 marfan syndrome 30.4 ELN FBN1 MMP2
17 pneumothorax 30.4 ELN FBN1 MMP2 MMP9
18 vascular disease 30.4 CCL2 CST3 ELANE ELN MMP3 MMP9
19 cerebral aneurysms 30.4 CCL2 ELANE ELN MMP2
20 peripheral artery disease 30.3 CCL2 CDKN2B-AS1 CST3
21 carotid artery disease 30.3 CCL2 MMP1 MMP3 MMP8 MMP9 TIMP1
22 aortic disease 30.2 ELN FBN1 MMP2 MMP9
23 kawasaki disease 30.2 CCL2 ELANE MMP3 MMP9 TIMP1
24 periodontitis 30.2 CCL2 CDKN2B-AS1 MMP1 MMP2 MMP3 MMP8
25 arthritis 30.2 CCL2 MMP1 MMP3 MMP9
26 lung cancer susceptibility 3 30.1 H19 MMP2 MMP9 PLAU
27 nasopharyngeal carcinoma 30.1 CDKN2B-AS1 H19 MMP3 MMP9
28 rheumatoid arthritis 29.9 CCL2 H19 MMP1 MMP3 MMP9 TIMP1
29 fibrosarcoma 29.9 MMP1 MMP2 MMP3 MMP9 PLAU TIMP1
30 aortic aneurysm, familial abdominal, 2 12.6
31 aortic aneurysm, familial abdominal, 4 12.5
32 aortic aneurysm, familial abdominal, 3 12.5
33 achalasia-addisonianism-alacrima syndrome 12.3
34 peripheral vascular disease 10.6
35 breast cancer 10.6
36 extracranial arteriovenous malformation 10.5 MMP2 MMP9
37 rheumatoid nodulosis 10.5 MMP3 MMP9
38 focal myositis 10.5 MMP2 MMP9
39 autoimmune inner ear disease 10.5 MMP9 TIMP1
40 villous adenocarcinoma 10.5 MMP2 MMP9
41 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.5 ELN FBN1
42 late-onset focal dermal elastosis 10.5 ELN FBN1
43 superior limbic keratoconjunctivitis 10.5 MMP1 MMP3
44 lentigo maligna melanoma 10.5 MMP2 MMP9
45 senile ectropion 10.5 ELN MMP2 MMP9
46 duodenal obstruction 10.5
47 amaurosis fugax 10.5 MMP8 MMP9
48 psammomatous meningioma 10.5 MMP2 MMP9
49 conjunctival nevus 10.5 MMP2 MMP9 TIMP1
50 internal hemorrhoid 10.5 MMP1 MMP2 MMP9

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:

33
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 33 HP:0005112

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 CST3 ELANE FBN1 MMP1 MMP12 MMP2
2 immune system MP:0005387 9.73 CCL2 ELANE FBN1 MMP1 MMP12 MMP2
3 neoplasm MP:0002006 9.23 CST3 ELANE MMP1 MMP2 MMP8 MMP9

Drugs & Therapeutics for Aortic Aneurysm, Familial Abdominal, 1

PubMedHealth treatment related to Aortic Aneurysm, Familial Abdominal, 1: 64

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 207)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
2
Atorvastatin Approved Phase 4,Phase 3,Phase 2 134523-00-5 60823
3
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
4
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
5
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
6
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
7
Atenolol Approved Phase 4 29122-68-7 2249
8
Eplerenone Approved Phase 4 107724-20-9 443872 150310
9
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
10
Remifentanil Approved Phase 4,Phase 2 132875-61-7 60815
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
13
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
14
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
15 Angiotensin Receptor Antagonists Phase 4
16 Angiotensin II Type 1 Receptor Blockers Phase 4
17 Angiotensinogen Phase 4
18 Giapreza Phase 4
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
20 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
21 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
22 Antimetabolites Phase 4,Phase 3,Phase 2
23 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2
25 Analgesics, Opioid Phase 4,Phase 3,Phase 2
26 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
27 Narcotics Phase 4,Phase 3,Phase 2
28 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
30 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
31 Anesthetics, Local Phase 4,Phase 3
32 Antipyretics Phase 4,Phase 3
33 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
34 Antihypertensive Agents Phase 4,Phase 2,Not Applicable,Early Phase 1
35 Adrenergic Agents Phase 4,Early Phase 1
36 Adrenergic beta-1 Receptor Antagonists Phase 4,Early Phase 1
37 Autonomic Agents Phase 4,Not Applicable,Early Phase 1
38 Anti-Arrhythmia Agents Phase 4
39 Neurotransmitter Agents Phase 4,Phase 2,Early Phase 1
40 Sympatholytics Phase 4,Early Phase 1
41 Adrenergic beta-Antagonists Phase 4,Early Phase 1
42 Adrenergic Antagonists Phase 4,Early Phase 1
43 Fluorodeoxyglucose F18 Phase 4,Not Applicable
44 Mineralocorticoids Phase 4
45 Hormones Phase 4,Phase 2,Not Applicable
46 Natriuretic Agents Phase 4,Not Applicable
47 Mineralocorticoid Receptor Antagonists Phase 4
48 Hormone Antagonists Phase 4,Phase 2,Not Applicable
49 diuretics Phase 4,Not Applicable
50 Diuretics, Potassium Sparing Phase 4

Interventional clinical trials:

(show top 50) (show all 341)
# Name Status NCT ID Phase Drugs
1 Prophylactic Mesh Implantation After Abdominal Aortic Aneurysm Repair Unknown status NCT01353443 Phase 4
2 Study of the Effectiveness of Telmisartan in Slowing the Progression of Abdominal Aortic Aneurysms Completed NCT01683084 Phase 4 Telmisartan;Placebo
3 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
4 Predictors of AAA Expansion and/or Rupture Recruiting NCT03231397 Phase 4 Assess AAA rupture risk by PET-CTA scans;18F-fludeoxyglucose (FDG)
5 Eplerenone in the Management of Abdominal Aortic Aneurysms Recruiting NCT02345590 Phase 4 Eplerenone
6 Comparison of Surveillance Versus Aortic Endografting for Small Aneurysm Repair Terminated NCT00118573 Phase 4
7 Statin Use in Abdominal Aortic Aneurysm Repair Completed NCT01062802 Phase 4 Atorvastatin
8 Endovascular Repair of Abdominal Aortic Aneurysms Completed NCT00803075 Phase 4
9 Post-Market Study to Assess Outcomes of Patients Treated With AFX System Compared to Other EVAR Devices Enrolling by invitation NCT02407457 Phase 4
10 Standard Open Surgery Versus Endovascular Repair of Abdominal Aortic Aneurysm (AAA) Completed NCT00094575 Phase 4
11 GORE EXCLUDER® Endoprosthesis - Low Permeability in Treatment of Abdominal Aortic Aneurysms Completed NCT00593814 Phase 4
12 Randomized Preventive Vascular Screening Trial of 65-74 Year Old Men in the Central Region of Denmark Recruiting NCT00662480 Phase 4
13 Opioid-potentiated Volative Anaesthetic Vs. Remifentanil And Propofol During Abdominal Aortic Aneurysm Surgery Completed NCT00538421 Phase 4 Propofol;Sevoflurane
14 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
15 Prevalence of Abdominal Aortic Aneurysm in Patients Undergoing Coronary Angiography Completed NCT01239225 Phase 4
16 Epidural Versus Wound Infusion Plus Morphine Bolus in Open Abdominal Aortic Aneurysm Repair Completed NCT02677532 Phase 4 Paracetamol;Levobupivacaine wound infiltration;Levobupivacaine epidural bolus;Sufentanil epidural bolus;Morphine;Levobupivacaine plus sufentanil epidural infusion;Levobupivacaine wound infusion
17 ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNique Withdrawn NCT01107366 Phase 4
18 Tranexamic Acid in Major Vascular Surgery Completed NCT02335359 Phase 4 tranexamic acid diluted in 100 ml of saline solution (loading dose);tranexamic acid undiluted (continous infusion);Placebo
19 Atorvastatin in Perioperative Vascular Surgery - Pilot Study Completed NCT00610545 Phase 4 Atorvastatin;Atorvastatin
20 Pilot Study of of Renal Arterial Sympathetic Denervation by Cryotherapy Active, not recruiting NCT02345603 Phase 4
21 Study of Tomography of Nephrolithiasis Evaluation Completed NCT01451931 Phase 4
22 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
23 34mm Cuff Study for Endovascular Repair of Abdominal Aortic Aneurysms Unknown status NCT00706394 Phase 2, Phase 3
24 NExT ERA: National Expertise Based Trial of Elective Repair of Abdominal Aortic Aneurysms: A Pilot Study Unknown status NCT00358085 Phase 3
25 Efficacy of the Ultrasound-guided Transversus Abdominis Plane Block in Open Aortic Abdominal Aneurysm Repair Surgery Unknown status NCT02292667 Phase 3 PCA with Chlorhydrate of Morphine;Acetaminophen
26 Magnetic Resonance Imaging of Aortic Aneurysm Instability Unknown status NCT00794092 Phase 2, Phase 3 Sinerem administration
27 Effect of Tranexamic Acid in Ruptured Abdominal Aortic Aneurysms Recruiting NCT02125890 Phase 3 Tranexamic Acid
28 Laparoscopic Versus Open Abdominal Aortic Aneurysm (AAA) Exclusion Withdrawn NCT00821145 Phase 3
29 Study of the Endovascular QUANTUM LP™ Stent Graft System in Abdominal Aortic Aneurysms (AAA) Completed NCT00233688 Phase 3
30 Curcumin to Prevent Complications After Elective Abdominal Aortic Aneurysm (AAA) Repair Completed NCT01225094 Phase 2, Phase 3 curcumin
31 Metformin Therapy in Non-diabetic AAA Patients Not yet recruiting NCT03507413 Phase 2, Phase 3 Metformin Glucophage 500mg IR tablets M90;Placebo Oral Tablet
32 ARBITER-II: Aorfix™ Bifurcated Safety and Performance Trial: Phase II, Angulated Vessels Completed NCT00442065 Phase 2, Phase 3
33 A Clinical Study to Evaluate the Safety and Performance of the Modular AAA Stent-Graft System Withdrawn NCT01368679 Phase 3
34 Powerlink Bifurcated Stent Graft Long-Term Follow-up Study Completed NCT00543270 Phase 2, Phase 3
35 Melatonin and Cardiac Outcome After Major Surgery Completed NCT00315926 Phase 2, Phase 3 Melatonin;Placebo
36 Primary Mesh Closure of Abdominal Midline Wounds Completed NCT00761475 Phase 3
37 Folic Acid for Vascular Outcome Reduction In Transplantation (FAVORIT) Completed NCT00064753 Phase 2, Phase 3 High Dose Multivitamin
38 Study to Evaluate the Efficacy and Safety of an Every Four Weeks Treatment Regimen of Alirocumab (REGN727/ SAR236553) in Patients With Primary Hypercholesterolemia (ODYSSEY CHOICE 1) Completed NCT01926782 Phase 3 Placebo (for alirocumab);Alirocumab;Statin
39 Phase III Study To Evaluate Alirocumab in Patients With Hypercholesterolemia Not Treated With a Statin (ODYSSEY CHOICE II) Completed NCT02023879 Phase 3 Alirocumab;Placebo (for Alirocumab);Non-statin LMT
40 Cyclosporine A in Patients With Small Diameter Abdominal Aortic Aneurysms Unknown status NCT02225756 Phase 2 Cyclosporine A;Cyclosporine A;Placebo
41 Suprarenal Proximal Cuff Study for Treatment of Abdominal Aortic Aneurysm Unknown status NCT00739401 Phase 2
42 Safety and Effectiveness Trial of the Ventana Fenestrated Stent Graft System Unknown status NCT01491945 Phase 2
43 Feasibility and Safety Study of the Endologix Fenestrated Stent Graft System Unknown status NCT01348828 Phase 2
44 IRon Nanoparticle Enhanced MRI in the Assessment of Myocardial infarctioN Unknown status NCT01995799 Phase 2
45 Trial of Atorvastatin on the Persistent Coronary Aneurysm in Children With Kawasaki Disease Unknown status NCT02114099 Phase 2 Atorvastatin
46 ACZ885 for the Treatment of Abdominal Aortic Aneurysm Terminated NCT02007252 Phase 2 ACZ885;Placebo
47 A MULTICENTER, OPEN LABEL, PROSPECTIVE, NON-RANDOMIZED STUDY OF INCRAFT™ IN SUBJECTS WITH ABDOMINAL AORTIC ANEURYSMS (INNOVATION) Completed NCT01106391 Phase 2
48 Safety Study for the Treatment of Abdominal Aortic Aneurysms Terminated NCT00610090 Phase 2
49 Clinical Study of the Treovance Stent-Graft for Patients With Abdominal Aortic Aneurysms Active, not recruiting NCT02009644 Phase 2
50 Evaluation of Effect of Angiotensin-converting Enzyme (ACE) Inhibitors on Small Aneurysm Growth Rate Completed NCT01118520 Phase 2 perindopril arginine;amlodipine 5mgs;placebo

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

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

42
Kidney, Heart, Smooth Muscle, Skin, Testes, Colon, Lung

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

20
The Abdominal Aorta

Publications for Aortic Aneurysm, Familial Abdominal, 1

Articles related to Aortic Aneurysm, Familial Abdominal, 1:

(show top 50) (show all 3914)
# Title Authors Year
1
Efficacy of Unibody Bifurcated Endovascular Stent-Graft Repair in the Treatment of Abdominal Aortic Aneurysm. ( 31036115 )
2019
2
Variation in the choice of elective surgical procedure for abdominal aortic aneurysm in Spain. ( 31040686 )
2019
3
Numerical investigation of the effects of blood rheology and wall elasticity in abdominal aortic aneurysm under pulsatile flow conditions. ( 31045509 )
2019
4
Impaired smooth muscle cell contractility as a novel concept of abdominal aortic aneurysm pathophysiology. ( 31048749 )
2019
5
ACR Appropriateness Criteria® Abdominal Aortic Aneurysm Follow-up (Without Repair). ( 31054747 )
2019
6
Abdominal Aortic Aneurysm Repair Readmissions and Disparities of Socioeconomic Status: A Multistate Analysis, 2007-2014. ( 31064731 )
2019
7
Late renal artery stent fracture with pseudoaneurysm after fenestrated endovascular abdominal aortic aneurysm repair. ( 31065610 )
2019
8
Ruptured abdominal aortic aneurysm mimicking acute coronary syndrome. ( 31066729 )
2019
9
Smooth muscle-specific Gsα deletion exaggerates angiotensin II-induced abdominal aortic aneurysm formation in mice in vivo. ( 31071332 )
2019
10
Prediction of Survival After 48 Hours of Intensive Unit Care Following Repair of Ruptured Abdominal Aortic Aneurysm - Multicentric Study for External Validation of a New Prediction Score for 30-Day Mortality. ( 31075455 )
2019
11
Design of The PReferences for Open Versus Endovascular Repair of Abdominal Aortic Aneurysm (PROVE-AAA) Trial. ( 31075459 )
2019
12
Large diameter (≥29 mm) proximal aortic necks are associated with increased complication rates after endovascular repair for abdominal aortic aneurysm. ( 31075483 )
2019
13
A novel vision-based system for quantitative analysis of abdominal aortic aneurysm deformation. ( 31088563 )
2019
14
Infectious Aortitis with Abdominal Aortic Aneurysm in a 47-Year-Old Female with Systemic Lupus Erythematosus. ( 31089427 )
2019
15
Unusual Presentation of Ruptured Abdominal Aortic Aneurysm. ( 31104382 )
2019
16
Estimation of Abdominal Aortic Aneurysm Rupture Risk with Biomechanical Imaging Markers. ( 31109852 )
2019
17
Long-term outcome of sac filling with fibrin sealant after endovascular aneurysm repair of abdominal aortic aneurysm with challenging aortic neck anatomy. ( 30777688 )
2019
18
3D segmentation of exterior wall surface of abdominal aortic aneurysm from CT images using variable neighborhood search. ( 30782525 )
2019
19
Transforming growth factor β neutralization finely tunes macrophage phenotype in elastase-induced abdominal aortic aneurysm and is associated with an increase of arginase 1 expression in the aorta. ( 30792060 )
2019
20
Response to 'Re. Importance of Surgeon Experience in the Relationship between Abdominal Aortic Aneurysm Surgery Volume and Peri-operative Mortality'. ( 30795928 )
2019
21
The 2019 update of the European abdominal aortic aneurysm guidelines. ( 30798841 )
2019
22
Regarding "Financial implications of coding inaccuracies in patients undergoing elective endovascular abdominal aortic aneurysm repair". ( 30798848 )
2019
23
Regarding "The Society for Vascular Surgery practice guidelines on the care of patients with an abdominal aortic aneurysm". ( 30798850 )
2019
24
An Extremely Rare Complication: Abdominal Aortic Aneurysm Rupture Caused by Migration of a Zenith Main Body Years After Repair of the Suprarenal Stent Separation. ( 30799671 )
2019
25
Acute dissection of the middle colic artery immediately after endovascular abdominal aortic aneurysm repair: A case report. ( 30802565 )
2019
26
Complex repair of juxtarenal abdominal aortic aneurysm (AAA) with an anatomical variant of the renal arteries. ( 30802580 )
2019
27
Endovascular aortic repair is a viable strategy for treatment of primary infected abdominal aortic aneurysm. ( 30802582 )
2019
28
Clinical and morphological outcomes in endovascular aortic repair of abdominal aortic aneurysm using Gore C3 Excluder: comparison between patients treated within and outside instructions for use. ( 30802590 )
2019
29
First Population Based Screening of Abdominal Aortic Aneurysm in Portugal. ( 30802591 )
2019
30
Impact of the aortic graft on arterial stiffness and inflammatory biomarkers after endovascular aortic repair or open surgical repair in abdominal aortic aneurysm disease. ( 30802592 )
2019
31
A Novel Quality of Life Instrument for Patients with an Abdominal Aortic Aneurysm. ( 30803917 )
2019
32
Man With Sudden Paralysis: Insidious Spinal Cord Infarction due to a Non-Ruptured Abdominal Aortic Aneurysm. ( 30824267 )
2019
33
Surgical Repair of a 13-cm Infrarenal Abdominal Aortic Aneurysm with Aortocaval Fistula in a 63-Year-Old Tuba Player. ( 30833836 )
2019
34
Correction to: Computational study on hemodynamic changes in patient-specific proximal neck angulation of abdominal aortic aneurysm with time-varying velocity. ( 30835076 )
2019
35
Identification of a novel class of RIP1/RIP3 dual inhibitors that impede cell death and inflammation in mouse abdominal aortic aneurysm models. ( 30842407 )
2019
36
Risk factors and outcomes for bowel ischemia after open and endovascular abdominal aortic aneurysm repair. ( 30850284 )
2019
37
Washington State abdominal aortic aneurysm-related mortality shows a steady decline between 1996 and 2016. ( 30850292 )
2019
38
Endosuture aneurysm repair in patients treated with Endurant II/IIs in conjunction with Heli-FX EndoAnchor implants for short-neck abdominal aortic aneurysm. ( 30850297 )
2019
39
Endovascular exclusion for giant abdominal aortic aneurysm. ( 30850348 )
2019
40
Increasing surgeon volume correlates with patient survival following open abdominal aortic aneurysm repair. ( 30852040 )
2019
41
Abdominal Aortic Aneurysm Screening Is Safe yet Lacks Effectiveness. ( 30855994 )
2019
42
c‑Jun/Ap‑1 is upregulated in an Ang II‑induced abdominal aortic aneurysm formation model and mediates Chop expression in mouse aortic smooth muscle cells. ( 30864718 )
2019
43
Outcomes after endovascular repair of abdominal aortic aneurysm involving the renovisceral arteries: A multi-center follow-up study. ( 30871441 )
2019
44
Meta-analysis of long-term survival after elective endovascular or open repair of abdominal aortic aneurysm. ( 30883709 )
2019
45
Endovascular repair of an abdominal aortic aneurysm using bifurcated stent-graft in a patient with bilateral external iliac artery occlusion. ( 30889166 )
2019
46
CT and 3D-ultrasound registration for spatial comparison of post-EVAR abdominal aortic aneurysm measurements: A cross-sectional study. ( 30889540 )
2019
47
Aorto-ureteric fistula post endovascular stent graft management of ruptured abdominal aortic aneurysm: a case report. ( 30891867 )
2019
48
Association of Life's Simple 7 with reduced clinically manifest abdominal aortic aneurysm: The ARIC study. ( 30898044 )
2019
49
Commentary: Pay me now or pay me later: Acute aortic dissection concomitant with a giant abdominal aortic aneurysm. ( 30902472 )
2019
50
Gene expression in patients with abdominal aortic aneurysm - more than immunological mechanisms involved. ( 30904002 )
2019

Variations for Aortic Aneurysm, Familial Abdominal, 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYLK NM_053025.3(MYLK): c.4844C> T (p.Ala1615Val) single nucleotide variant Likely benign rs202177283 GRCh38 Chromosome 3, 123638188: 123638188
2 MYLK NM_053025.3(MYLK): c.4844C> T (p.Ala1615Val) single nucleotide variant Likely benign rs202177283 GRCh37 Chromosome 3, 123357035: 123357035

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 CCL2 CST3 ELANE MMP1 MMP2 MMP3
2
Show member pathways
13.33 CCL2 ELN FBN1 MMP1 MMP12 MMP2
3
Show member pathways
12.55 ELANE ELN FBN1 MMP1 MMP12 MMP2
4
Show member pathways
12.22 CCL2 MMP1 MMP3 MMP9
5
Show member pathways
12.19 CCL2 ELN FBN1 MMP1 MMP12 MMP2
6
Show member pathways
12.15 CCL2 MMP1 MMP3 TIMP1
7 12.15 ELANE MMP3 MMP9 PLAU
8 12.09 MMP1 MMP12 MMP2 MMP9
9 11.99 CCL2 MMP1 MMP2 MMP3 MMP9 TIMP1
10 11.91 MMP2 MMP3 MMP9
11 11.9 CCL2 MMP12 MMP9
12 11.86 CCL2 MMP3 MMP9
13 11.83 CCL2 MMP2 MMP3 MMP9 TIMP1 TIMP2
14 11.76 CCL2 MMP1 MMP3
15 11.65 MMP1 MMP2 MMP9
16 11.63 CCL2 MMP3 MMP9
17
Show member pathways
11.62 MMP1 MMP2 MMP3 MMP9
18 11.6 CCL2 ELN MMP2 MMP9 PLAU TIMP1
19 11.49 ELANE MMP2 MMP9 PLAU
20
Show member pathways
11.4 MMP2 MMP9 PLAU
21 11.34 MMP1 MMP12 MMP2 MMP3 MMP9 PLAU
22 11.32 ELANE ELN MMP1 MMP3 MMP9 TIMP2
23 11.3 CCL2 MMP1 MMP2 MMP9 PLAU
24
Show member pathways
11.27 ELANE MMP1 MMP12 MMP2 MMP3 MMP8
25 11.24 CCL2 MMP2 MMP9
26 11.18 CCL2 MMP9 TIMP1 TIMP2
27 11.09 CST3 MMP2 MMP9
28 10.99 CCL2 MMP1 TIMP1
29 10.93 CCL2 ELN FBN1 TIMP1 TIMP2
30 10.86 MMP1 MMP9

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 space GO:0005615 9.93 CCL2 CST3 ELANE FBN1 MMP12 MMP2
2 collagen-containing extracellular matrix GO:0062023 9.8 ELANE ELN FBN1 MMP2 MMP8 MMP9
3 extracellular region GO:0005576 9.8 CCL2 CST3 ELANE ELN FBN1 MMP1
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 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.88 CST3 ELANE MMP8 MMP9 PLAU TIMP2
2 proteolysis GO:0006508 9.86 PLAU ELANE MMP1 MMP12 MMP2 MMP3
3 cytokine-mediated signaling pathway GO:0019221 9.8 MMP1 CCL2 MMP2 MMP3 MMP9 TIMP1
4 cellular protein metabolic process GO:0044267 9.77 MMP1 FBN1 CST3 MMP2 TIMP1
5 negative regulation of peptidase activity GO:0010466 9.7 CST3 TIMP1 TIMP2
6 endodermal cell differentiation GO:0035987 9.61 MMP2 MMP8 MMP9
7 positive regulation of protein oligomerization GO:0032461 9.51 MMP1 MMP3
8 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.49 TIMP1 TIMP2
9 response to hypoxia GO:0001666 9.48 MMP2 PLAU
10 negative regulation of metallopeptidase activity GO:1905049 9.46 TIMP1 TIMP2
11 collagen catabolic process GO:0030574 9.43 MMP12 MMP2 MMP3 MMP8 MMP9 MMP1
12 regulation of neuroinflammatory response GO:0150077 9.33 MMP3 MMP8 MMP9
13 extracellular matrix disassembly GO:0022617 9.28 TIMP2 MMP9 MMP8 ELANE MMP1 MMP12

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

(show all 11)
# 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 9.92 ELANE MMP1 MMP12 MMP2 MMP3 MMP8
3 metallopeptidase activity GO:0008237 9.73 MMP1 MMP12 MMP2 MMP3 MMP8 MMP9
4 protease binding GO:0002020 9.71 CST3 ELANE TIMP1 TIMP2
5 peptidase inhibitor activity GO:0030414 9.67 CST3 TIMP1 TIMP2
6 metalloendopeptidase activity GO:0004222 9.63 MMP1 MMP12 MMP2 MMP3 MMP8 MMP9
7 metalloendopeptidase inhibitor activity GO:0008191 9.48 TIMP1 TIMP2
8 extracellular matrix constituent conferring elasticity GO:0030023 9.43 ELN FBN1
9 endopeptidase activity GO:0004175 9.43 ELANE MMP1 MMP12 MMP3 MMP8 MMP9
10 serine-type endopeptidase activity GO:0004252 9.17 ELANE MMP1 MMP2 MMP3 MMP8 MMP9
11 hydrolase activity GO:0016787 10.06 ELANE MMP1 MMP12 MMP2 MMP3 MMP8

Sources for Aortic Aneurysm, Familial Abdominal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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