AAA
MCID: ART138
MIFTS: 64

Aortic Aneurysm, Familial Abdominal, 1 (AAA)

Categories: Rare diseases, Cardiovascular diseases, Genetic 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 76 53 3 15 63
Aortic Aneurysm, Familial Abdominal 1 57 12 13
Aneurysm, Abdominal Aortic 57 53
Aortic Aneurysm, Abdominal 44 73
Aaa 57 75
Familial Abdominal Aortic Aneurysm 1 6
Aortic Aneurysm, Familial Abdominal 75
Aneurysm, Abdominal Aortic; Aaa 57
Aortic Aneurysm Abdominal 55
Aaa1 57

Characteristics:

OMIM:

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


Classifications:



External Ids:

OMIM 57 100070
Disease Ontology 12 DOID:7693
MeSH 44 D017544
NCIt 50 C27000
SNOMED-CT 68 155422008 233985008
ICD10 33 I71.4
UMLS 73 C0162871

Summaries for Aortic Aneurysm, Familial Abdominal, 1

NIH Rare Diseases : 53 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
Genetic risk (rs10757278,A>G) for abdominal aortic aneurysm.
Dysfunction Pattern: Mutation), and among its related pathways/superpathways are Innate Immune System and Integrin Pathway. The drugs Angiotensin II and Atenolol have been mentioned in the context of this disorder. Affiliated tissues include the abdominal aorta, kidney and heart, and related phenotypes are abdominal aortic aneurysm and homeostasis/metabolism

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)

UniProtKB/Swiss-Prot : 75 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.

CDC : 3 Thoracic Aortic Aneurysms

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

PubMed Health : 63 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 : 76 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 122)
# Related Disease Score Top Affiliating Genes
1 familial abdominal aortic aneurysm 35.2 ELN FBN1
2 aortic aneurysm 31.0 CDKN2B-AS1 ELN FBN1
3 aortic aneurysm, familial abdominal, 2 12.4
4 aortic aneurysm, familial abdominal, 4 12.3
5 aortic aneurysm, familial abdominal, 3 12.3
6 achalasia-addisonianism-alacrima syndrome 12.0
7 extracranial arteriovenous malformation 11.1 MMP2 MMP9
8 rheumatoid nodulosis 11.1 MMP3 MMP9
9 focal myositis 11.1 MMP2 MMP9
10 autoimmune inner ear disease 11.1 MMP9 TIMP1
11 superior limbic keratoconjunctivitis 11.1 MMP1 MMP3
12 pseudoxanthoma elasticum-like papillary dermal elastolysis 11.1 ELN FBN1
13 late-onset focal dermal elastosis 11.1 ELN FBN1
14 lentigo maligna melanoma 11.1 MMP2 MMP9
15 chronic venous leg ulcers 11.0 MMP9 TIMP1
16 villous adenocarcinoma 11.0 MMP2 MMP9
17 diabetic foot ulcers 11.0 MMP9 TIMP1
18 psammomatous meningioma 11.0 MMP2 MMP9
19 senile ectropion 11.0 ELN MMP2 MMP9
20 acute transverse myelitis 11.0 MMP2 MMP9
21 amaurosis fugax 11.0 MMP8 MMP9
22 conjunctival nevus 11.0 MMP2 MMP9 TIMP1
23 lung giant cell carcinoma 11.0 MMP2 MMP9 TIMP1
24 internal hemorrhoid 11.0 MMP1 MMP2 MMP9
25 light chain deposition disease 11.0 MMP1 MMP2 MMP9
26 odontogenic myxoma 11.0 MMP1 MMP2 MMP9
27 gingival hypertrophy 11.0 MMP3 MMP9 TIMP2
28 corneal ulcer 11.0 MMP2 MMP3 MMP9
29 central nervous system tuberculosis 10.9 ELANE MMP9 TIMP1
30 chronic venous insufficiency 10.9 MMP1 MMP9 TIMP1
31 carotid stenosis 10.9 CDKN2B-AS1 MMP1 MMP9
32 nodular malignant melanoma 10.9 MMP1 MMP2 TIMP2
33 venous insufficiency 10.9 MMP1 MMP9 TIMP1
34 prostate disease 10.9 CDKN2B-AS1 H19
35 adult astrocytic tumour 10.9 MMP1 MMP3 MMP9
36 hypertensive heart disease 10.9 MMP1 MMP2 MMP9
37 periodontitis, chronic 10.9 MMP1 MMP8
38 gastrointestinal system cancer 10.9 H19 MMP2 MMP9
39 spinal stenosis 10.9 MMP3 TIMP1 TIMP2
40 supravalvular aortic stenosis 10.9 ELN FBN1 MMP2
41 tendinosis 10.9 MMP1 MMP3 TIMP1
42 bone deterioration disease 10.9 MMP1 MMP3 TIMP1
43 endometriosis 10.9 CCL2 CDKN2B-AS1 H19
44 blepharochalasis 10.9 MMP3 MMP9
45 aortic valve disease 1 10.9 ELN FBN1 H19
46 lymphangioleiomyomatosis 10.9 ELN MMP1 MMP2
47 refractive error 10.9 MMP2 TIMP1 TIMP2
48 tongue cancer 10.9 MMP2 MMP8 MMP9
49 preterm premature rupture of the membranes 10.9 MMP1 MMP8 TIMP2
50 peripheral artery disease 10.9 CCL2 CDKN2B-AS1 CST3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 abdominal aortic aneurysm 32 HP:0005112

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ELANE FBN1 MMP1 MMP2 MMP3 MMP8
2 immune system MP:0005387 9.7 FBN1 MMP1 MMP2 MMP3 MMP8 MMP9
3 neoplasm MP:0002006 9.23 MMP1 MMP2 MMP8 MMP9 PLAU TIMP1

Drugs & Therapeutics for Aortic Aneurysm, Familial Abdominal, 1

PubMedHealth treatment related to Aortic Aneurysm, Familial Abdominal, 1: 63

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 203)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
2
Atenolol Approved Phase 4 29122-68-7 2249
3
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
4
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
5
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
6
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
10
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
11
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
12
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
13
Menthol Approved Phase 4,Not Applicable 2216-51-5 16666
14
Eplerenone Approved Phase 4 107724-20-9 150310 443872
15
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
16
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
17 Adrenergic Agents Phase 4,Early Phase 1
18 Adrenergic Antagonists Phase 4,Early Phase 1
19 Adrenergic beta-1 Receptor Antagonists Phase 4,Early Phase 1
20 Adrenergic beta-Antagonists Phase 4,Early Phase 1
21 Angiotensin II Type 1 Receptor Blockers Phase 4
22 Angiotensin Receptor Antagonists Phase 4
23 Angiotensinogen Phase 4
24 Anti-Arrhythmia Agents Phase 4
25 Antihypertensive Agents Phase 4,Phase 2,Early Phase 1,Not Applicable
26 Autonomic Agents Phase 4,Not Applicable,Early Phase 1
27 Neurotransmitter Agents Phase 4,Phase 2,Early Phase 1
28 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
29 Sympatholytics Phase 4,Early Phase 1
30 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
31 Antimetabolites Phase 4,Phase 2,Phase 3
32 Atorvastatin Calcium Phase 4,Phase 3,Phase 2 134523-03-8
33 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
34 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2
35 Hypolipidemic Agents Phase 4,Phase 2,Phase 3
36 Lipid Regulating Agents Phase 4,Phase 2,Phase 3
37 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
38 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable
39 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
40 Analgesics Phase 4,Phase 2,Phase 3
41 Analgesics, Opioid Phase 4,Phase 3
42 Anesthetics, General Phase 4,Not Applicable
43 Anesthetics, Inhalation Phase 4,Not Applicable
44 Anesthetics, Intravenous Phase 4,Not Applicable
45 Hypnotics and Sedatives Phase 4,Not Applicable
46 Narcotics Phase 4,Phase 3
47 Platelet Aggregation Inhibitors Phase 4
48 Adjuvants, Anesthesia Phase 4
49 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
50 Anesthetics, Local Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 320)
# Name Status NCT ID Phase Drugs
1 Prophylactic Mesh Implantation After Abdominal Aortic Aneurysm Repair Unknown status NCT01353443 Phase 4
2 Comparison of Beta-blocker Versus Angiotensin Receptor Blocker for Suppression of Aneurysm Expansion in Patients With Small Abdominal Aortic Aneurysm and Hypertension (BASE Trial) Unknown status NCT01904981 Phase 4 Beta-blocker-Atenolol 50mg, PO(peroral), Once daily;Angiotensin receptor blocker-Valsartan 80mg, PO(peroral), Once daily
3 Study of the Effectiveness of Telmisartan in Slowing the Progression of Abdominal Aortic Aneurysms Completed NCT01683084 Phase 4 Telmisartan;Placebo
4 Statin Use in Abdominal Aortic Aneurysm Repair Completed NCT01062802 Phase 4 Atorvastatin
5 Endovascular Repair of Abdominal Aortic Aneurysms Completed NCT00803075 Phase 4
6 Standard Open Surgery Versus Endovascular Repair of Abdominal Aortic Aneurysm (AAA) Completed NCT00094575 Phase 4
7 GORE EXCLUDER® Endoprosthesis - Low Permeability in Treatment of Abdominal Aortic Aneurysms Completed NCT00593814 Phase 4
8 Opioid-potentiated Volative Anaesthetic Vs. Remifentanil And Propofol During Abdominal Aortic Aneurysm Surgery Completed NCT00538421 Phase 4 Propofol;Sevoflurane
9 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
10 Prevalence of Abdominal Aortic Aneurysm in Patients Undergoing Coronary Angiography Completed NCT01239225 Phase 4
11 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
12 Atorvastatin in Perioperative Vascular Surgery - Pilot Study Completed NCT00610545 Phase 4 Atorvastatin;Atorvastatin
13 Study of Tomography of Nephrolithiasis Evaluation Completed NCT01451931 Phase 4
14 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
15 Eplerenone in the Management of Abdominal Aortic Aneurysms Recruiting NCT02345590 Phase 4 Eplerenone
16 Randomized Preventive Vascular Screening Trial of 65-74 Year Old Men in the Central Region of Denmark Recruiting NCT00662480 Phase 4
17 Tranexamic Acid in Major Vascular Surgery Active, not recruiting NCT02335359 Phase 4 tranexamic acid diluted in 100 ml of saline solution (loading dose);tranexamic acid undiluted (continous infusion);Placebo
18 Pilot Study of of Renal Arterial Sympathetic Denervation by Cryotherapy Active, not recruiting NCT02345603 Phase 4
19 Post-Market Study to Assess Outcomes of Patients Treated With AFX System Compared to Other EVAR Devices Enrolling by invitation NCT02407457 Phase 4
20 Comparison of Surveillance Versus Aortic Endografting for Small Aneurysm Repair Terminated NCT00118573 Phase 4
21 ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNique Withdrawn NCT01107366 Phase 4
22 34mm Cuff Study for Endovascular Repair of Abdominal Aortic Aneurysms Unknown status NCT00706394 Phase 2, Phase 3
23 NExT ERA: National Expertise Based Trial of Elective Repair of Abdominal Aortic Aneurysms: A Pilot Study Unknown status NCT00358085 Phase 3
24 Magnetic Resonance Imaging of Aortic Aneurysm Instability Unknown status NCT00794092 Phase 2, Phase 3 Sinerem administration
25 Study of the Endovascular QUANTUM LP™ Stent Graft System in Abdominal Aortic Aneurysms (AAA) Completed NCT00233688 Phase 3
26 Curcumin to Prevent Complications After Elective Abdominal Aortic Aneurysm (AAA) Repair Completed NCT01225094 Phase 2, Phase 3 curcumin
27 ARBITER-II: Aorfix™ Bifurcated Safety and Performance Trial: Phase II, Angulated Vessels Completed NCT00442065 Phase 2, Phase 3
28 Powerlink Bifurcated Stent Graft Long-Term Follow-up Study Completed NCT00543270 Phase 2, Phase 3
29 Melatonin and Cardiac Outcome After Major Surgery Completed NCT00315926 Phase 2, Phase 3 Melatonin;Placebo
30 Primary Mesh Closure of Abdominal Midline Wounds Completed NCT00761475 Phase 3
31 Folic Acid for Vascular Outcome Reduction In Transplantation (FAVORIT) Completed NCT00064753 Phase 2, Phase 3 High Dose Multivitamin
32 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
33 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
34 Effect of Tranexamic Acid in Ruptured Abdominal Aortic Aneurysms Recruiting NCT02125890 Phase 3 Tranexamic Acid
35 Efficacy of the Ultrasound-guided Transversus Abdominis Plane Block in Open Aortic Abdominal Aneurysm Repair Surgery Recruiting NCT02292667 Phase 3 PCA with Chlorhydrate of Morphine;Acetaminophen
36 Clinical Study of the TriVascular Ovation™ Abdominal Stent Graft System Active, not recruiting NCT01092117 Phase 3
37 Metformin Therapy in Non-diabetic AAA Patients Not yet recruiting NCT03507413 Phase 2, Phase 3 Metformin Hydrochloride 1000Mg Tablet;Placebo Oral Tablet
38 Laparoscopic Versus Open Abdominal Aortic Aneurysm (AAA) Exclusion Withdrawn NCT00821145 Phase 3
39 A Clinical Study to Evaluate the Safety and Performance of the Modular AAA Stent-Graft System Withdrawn NCT01368679 Phase 3
40 Suprarenal Proximal Cuff Study for Treatment of Abdominal Aortic Aneurysm Unknown status NCT00739401 Phase 2
41 Safety and Effectiveness Trial of the Ventana Fenestrated Stent Graft System Unknown status NCT01491945 Phase 2
42 Feasibility and Safety Study of the Endologix Fenestrated Stent Graft System Unknown status NCT01348828 Phase 2
43 IRon Nanoparticle Enhanced MRI in the Assessment of Myocardial infarctioN Unknown status NCT01995799 Phase 2
44 Trial of Atorvastatin on the Persistent Coronary Aneurysm in Children With Kawasaki Disease Unknown status NCT02114099 Phase 2 Atorvastatin
45 A MULTICENTER, OPEN LABEL, PROSPECTIVE, NON-RANDOMIZED STUDY OF INCRAFT™ IN SUBJECTS WITH ABDOMINAL AORTIC ANEURYSMS (INNOVATION) Completed NCT01106391 Phase 2
46 Evaluation of Effect of Angiotensin-converting Enzyme (ACE) Inhibitors on Small Aneurysm Growth Rate Completed NCT01118520 Phase 2 perindopril arginine;amlodipine 5mgs;placebo
47 The Efficacy of Ticagrelor on Abdominal Aortic Aneurysm (AAA) Expansion Completed NCT02070653 Phase 2 Ticagrelor;Placebo
48 Cordis Bilateral AAA Device Compared to Open Surgical Repair of Abdominal Aortic Aneurysms (ARIBA) Completed NCT00235118 Phase 1, Phase 2
49 Study of the Large Diameter GORE EXCLUDER® AAA Endoprosthesis in Abdominal Aneurysms Completed NCT00615069 Phase 2
50 CRD007 for the Treatment of Abdominal Aorta Aneurysm (The AORTA Trial) Completed NCT01354184 Phase 2 CRD007;CRD007 matching 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

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

19
The Abdominal Aorta

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

41
Kidney, Heart, Smooth Muscle, Skin, Testes, Colon, Spinal Cord

Publications for Aortic Aneurysm, Familial Abdominal, 1

Articles related to Aortic Aneurysm, Familial Abdominal, 1:

(show top 50) (show all 1795)
# Title Authors Year
1
Concomitant mycotic abdominal aortic aneurysm and lumbartuberculous spondylitis with cauda equina syndrome: a rare condition - a case report and literature review. ( 29479482 )
2018
2
Ten-year experience of the thoraco-abdominal aortic aneurysm treatment using a hybrid thoracic endovascular aortic repair. ( 29415193 )
2018
3
Modulation of Immune-Inflammatory Responses in Abdominal Aortic Aneurysm: Emerging Molecular Targets. ( 29967801 )
2018
4
Cysteinyl leukotriene receptor 1 antagonism prevents experimental abdominal aortic aneurysm. ( 29432192 )
2018
5
Comparative effectiveness of open surgery versus endovascular repair for hemodynamically stable and unstable ruptured abdominal aortic aneurysm. ( 29979402 )
2018
6
Understanding abdominal aortic aneurysm epidemiology: socioeconomic position affects outcome. ( 29967003 )
2018
7
Patients with end-stage renal disease have poor outcomes after endovascular abdominal aortic aneurysm repair. ( 29945838 )
2018
8
Screening for Abdominal Aortic Aneurysm During Transthoracic Echocardiography: A Systematic Review and Meta-analysis. ( 29433798 )
2018
9
Systematic Review of Circulating, Biomechanical, and Genetic Markers for the Prediction of Abdominal Aortic Aneurysm Growth and Rupture. ( 29960996 )
2018
10
Impact of abdominal aortic aneurysm screening on quality ofA life. ( 29405273 )
2018
11
Defective p27 phosphorylation at serine 10 affects vascular reactivity and increases abdominal aortic aneurysm development via Cox-2 activation. ( 29408196 )
2018
12
Early growth response factor-1 DNA enzyme 1 inhibits the formation of abdominal aortic aneurysm in rats. ( 29977360 )
2018
13
Association of carotid atherosclerosis and stiffness with abdominal aortic aneurysm: The atherosclerosis risk in communities (ARIC) study. ( 29407878 )
2018
14
The Association of Biomarkers of Inflammation and Extracellular Matrix Degradation With the Risk of Abdominal Aortic Aneurysm: The ARIC Study. ( 29945457 )
2018
15
Endovascular repair for inflammatory abdominal aortic aneurysm. ( 29945204 )
2018
16
Embelin inhibits abdominal aortic aneurysm through decreasing ILa896a89induced STAT3 and NFa89I_B inactivation. ( 29956759 )
2018
17
A custom-made TreovanceAr abdominal aortic aneurysm endograft to correct late failure of trombone technique with a tube endograft. ( 29421425 )
2018
18
Increased Risk of Peripheral Arterial Disease in Patients With Abdominal Aortic Aneurysm: A Retrospective Cohort Study (Version 5). ( 29444589 )
2018
19
Snorkel Technique for Inferior Mesenteric Artery During Endovascular Repair of Abdominal Aortic Aneurysm. ( 29433410 )
2018
20
Abdominal aortic aneurysm calcification: trying to identify a reliable semiquantitative method. ( 29430885 )
2018
21
Double Inferior Vena Cava with Azygos Continuation and Retroaortic Left Renal Vein Associated with Juxtarenal Abdominal Aortic Aneurysm Surgery. ( 29682119 )
2018
22
Screening key genes for abdominal aortic aneurysm based on gene expression omnibus dataset. ( 29439675 )
2018
23
Ischemic Preconditioning of the Spinal Cord to Prevent Spinal Cord Ischemia during Endovascular Repair of Thoraco-Abdominal Aortic Aneurysm - First Clinical Experience. ( 29969429 )
2018
24
Rupture of an Abdominal Aortic Aneurysm in a Young Man with Marfan Syndrome. ( 29421423 )
2018
25
Nationwide analysis of risk factors for in-hospital mortality in patients undergoing abdominal aortic aneurysm repair. ( 29417985 )
2018
26
Clinical outcomes of total endovascular aneurysm repair for aortic aneurysms involving the proximal anastomotic aneurysm following initial open repair for infrarenal abdominal aortic aneurysm. ( 29421415 )
2018
27
Randomized clinical trial of remote ischaemic preconditioning versus no preconditioning in the prevention of perioperative myocardial infarction during open surgery for ruptured abdominal aortic aneurysm. ( 29951634 )
2018
28
Recombinant adeno-associated virus vector carrying the thrombomodulin lectin-like domain for the treatment of abdominal aortic aneurysm. ( 28525804 )
2017
29
Atherosclerotic vascular diseases have really the same risk factors? Comparison between large abdominal aortic aneurysm and obstructive non-coronary arterial disease. ( 28509621 )
2017
30
Upregulation of MicroRNA-15a Contributes to Pathogenesis of Abdominal Aortic Aneurysm (AAA) by Modulating the Expression of Cyclin-Dependent Kinase Inhibitor 2B (CDKN2B). ( 28214350 )
2017
31
Higher 30 Day Mortality in Patients with Familial Abdominal Aortic Aneurysm after EVAR. ( 28579278 )
2017
32
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2017
33
Experiences of the screening process and the diagnosis abdominal aortic aneurysm among 65-year-old men from invitation to a 1-year surveillance. ( 28527730 )
2017
34
Update on Screening for Abdominal Aortic Aneurysm. ( 28526395 )
2017
35
Abdominal Aortic Aneurysm-Associated MicroRNA-516a-5p Regulates Expressions of Methylenetetrahydrofolate Reductase, Matrix Metalloproteinase-2, and Tissue Inhibitor of Matrix Metalloproteinase-1 in Human Abdominal Aortic Vascular Smooth Muscle Cells. ( 28288890 )
2017
36
Screening of circulating microRNA biomarkers for prevalence of abdominal aortic aneurysm and aneurysm growth. ( 27993388 )
2017
37
The effects of preoperative cardiology consultation prior to elective abdominal aortic aneurysm repair on patient morbidity. ( 28059000 )
2017
38
Melatonin attenuates angiotensin II-induced abdominal aortic aneurysm through the down-regulation of matrix metalloproteinases. ( 28179581 )
2017
39
A potential contribution of dipeptidyl peptidase-4 by the mediation of monocyte differentiation in the development and progression of abdominal aortic aneurysms. ( 27887857 )
2017
40
Increased galectin-3 levels are associated with abdominal aortic aneurysm progression and inhibition of galectin-3 decreases elastase-induced AAA development. ( 28982723 )
2017
41
Double-lumen atherosclerotic abdominal aortic aneurysm. ( 28010862 )
2017
42
Predictors Associated With Increased Prevalence of Abdominal Aortic Aneurysm in Chinese Patients with Atherosclerotic Risk Factors. ( 28527818 )
2017
43
The Association of Serum Thrombomodulin with Endothelial Injuring Factors in Abdominal Aortic Aneurysm. ( 28473982 )
2017
44
Endovascular repair of a short neck abdominal aortic aneurysm with a physician-modified Vascutek Anaconda stent-graft. ( 28495541 )
2017
45
The Incidence of Ischemic Colitis after Repair of Ruptured Abdominal Aortic Aneurysms is Decreasing in the Endovascular Era. ( 28919522 )
2017
46
Comparison of Endovascular Stent Grafts for Abdominal Aortic Aneurysm Repair in Medicare Beneficiaries. ( 28890065 )
2017
47
A Rare Presentation of Abdominal Aortic Aneurysm-Renal Pelvis Rupture Due to Compression. ( 28887257 )
2017
48
Resveratrol Inhibits Growth of Experimental Abdominal Aortic Aneurysm Associated With Upregulation of Angiotensin-Converting Enzyme 2. ( 28935757 )
2017
49
Effects of acute exercise on endothelial function in abdominal aortic aneurysm patients. ( 28939648 )
2017
50
Clearance of matrix metalloproteinase-9 is dependent on low-density lipoprotein receptor-related protein-1 expression downregulated by microRNA-205 in human abdominal aortic aneurysm. ( 26781079 )
2017

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 AAAS CCL2 CST3 ELANE MMP1 MMP2
2
Show member pathways
13.32 CCL2 ELN FBN1 MMP1 MMP2 MMP3
3
Show member pathways
13.26 AAAS CCL2 MMP1 MMP2 MMP3 MMP9
4
Show member pathways
12.61 ELANE ELN FBN1 MMP1 MMP2 MMP3
5
Show member pathways
12.22 CCL2 MMP1 MMP3 MMP9
6 12.15 ELANE MMP3 MMP9 PLAU
7
Show member pathways
12.11 CCL2 MMP1 MMP3 TIMP1
8 11.97 CCL2 MMP1 MMP2 MMP3 MMP9 TIMP1
9 11.83 CCL2 MMP3 MMP9
10 11.83 CCL2 MMP2 MMP3 MMP9 TIMP1 TIMP2
11 11.74 CCL2 MMP1 MMP3
12 11.64 MMP1 MMP2 MMP9
13
Show member pathways
11.6 MMP1 MMP2 MMP3 MMP9
14 11.6 CCL2 ELN MMP2 MMP9 PLAU TIMP1
15 11.46 ELANE MMP2 MMP9 PLAU
16
Show member pathways
11.4 MMP2 MMP9 PLAU
17 11.3 CCL2 MMP1 MMP2 MMP9 PLAU
18 11.29 MMP1 MMP2 MMP3 MMP9 PLAU TIMP1
19 11.23 CCL2 MMP2 MMP9
20 11.22 ELANE ELN MMP1 MMP3 MMP9 TIMP2
21
Show member pathways
11.22 ELANE MMP1 MMP2 MMP3 MMP8 MMP9
22 11.16 CCL2 MMP9 TIMP1 TIMP2
23 11.07 CST3 MMP2 MMP9
24 10.97 CCL2 MMP1 TIMP1
25 10.85 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 9.9 CCL2 CST3 ELANE FBN1 MMP2 MMP3
2 extracellular region GO:0005576 9.77 CCL2 CST3 ELANE ELN FBN1 MMP1
3 tertiary granule lumen GO:1904724 9.56 CST3 MMP8 MMP9 TIMP2
4 basement membrane GO:0005604 9.54 CST3 FBN1 TIMP1
5 specific granule lumen GO:0035580 9.5 ELANE MMP8 TIMP2
6 extracellular matrix GO:0031012 9.28 ELN FBN1 MMP1 MMP2 MMP3 MMP8

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.87 ELANE MMP1 MMP2 MMP3 MMP8 MMP9
2 neutrophil degranulation GO:0043312 9.85 CST3 ELANE MMP8 MMP9 PLAU TIMP2
3 cellular protein metabolic process GO:0044267 9.65 CST3 FBN1 MMP1 MMP2 TIMP1
4 embryo implantation GO:0007566 9.63 CST3 MMP2 MMP9
5 cytokine-mediated signaling pathway GO:0019221 9.63 CCL2 MMP1 MMP2 MMP3 MMP9 TIMP1
6 endodermal cell differentiation GO:0035987 9.58 MMP2 MMP8 MMP9
7 cell activation GO:0001775 9.51 CST3 TIMP1
8 positive regulation of protein oligomerization GO:0032461 9.49 MMP1 MMP3
9 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.48 TIMP1 TIMP2
10 negative regulation of metallopeptidase activity GO:1905049 9.43 TIMP1 TIMP2
11 collagen catabolic process GO:0030574 9.35 MMP1 MMP2 MMP3 MMP8 MMP9
12 extracellular matrix disassembly GO:0022617 9.32 ELANE ELN FBN1 MMP1 MMP2 MMP3

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 9.95 MMP1 MMP2 MMP3 MMP8 MMP9 TIMP1
2 peptidase activity GO:0008233 9.7 ELANE MMP1 MMP2 MMP3 MMP8 MMP9
3 protease binding GO:0002020 9.67 CST3 ELANE TIMP1 TIMP2
4 metallopeptidase activity GO:0008237 9.65 MMP1 MMP2 MMP3 MMP8 MMP9
5 endopeptidase activity GO:0004175 9.62 ELANE MMP1 MMP3 MMP9
6 metalloendopeptidase inhibitor activity GO:0008191 9.43 TIMP1 TIMP2
7 metalloendopeptidase activity GO:0004222 9.35 MMP1 MMP2 MMP3 MMP8 MMP9
8 serine-type endopeptidase activity GO:0004252 9.17 ELANE MMP1 MMP2 MMP3 MMP8 MMP9

Sources for Aortic Aneurysm, Familial Abdominal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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