MCID: ART017
MIFTS: 49

Aortic Disease

Categories: Cardiovascular diseases

Aliases & Classifications for Aortic Disease

MalaCards integrated aliases for Aortic Disease:

Name: Aortic Disease 12 15 17
Aortic Diseases 54 44 70
Disorder of the Aorta 12
Aortic Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:520
MeSH 44 D001018
NCIt 50 C101253
SNOMED-CT 67 47040006
UMLS 70 C0003493

Summaries for Aortic Disease

Disease Ontology : 12 An artery disease that is characterized by degeneration of the cells composing the aortic wall.

MalaCards based summary : Aortic Disease, also known as aortic diseases, is related to heritable thoracic aortic disease and aortic aneurysm. An important gene associated with Aortic Disease is FBN1 (Fibrillin 1), and among its related pathways/superpathways are GPCR Pathway and ERK Signaling. The drugs Propofol and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, heart and smooth muscle, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Aortic Disease

Diseases related to Aortic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 234)
# Related Disease Score Top Affiliating Genes
1 heritable thoracic aortic disease 31.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2 aortic aneurysm 31.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3 aortic dissection 31.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4 marfan syndrome 30.9 TGFBR2 TGFBR1 TGFB2 NOTCH1 MYLK MYH11
5 ehlers-danlos syndrome 30.8 TGFBR1 FBN1 ELN COL3A1
6 aortic aneurysm, familial abdominal, 1 30.7 TGFBR2 REN MYH11 LOX IL6 FBN1
7 aortic valve insufficiency 30.6 TGFBR2 TGFBR1 REN MYH11 FBN1 ELN
8 heart valve disease 30.6 REN FBN1 ELN
9 aortic aneurysm, familial thoracic 1 30.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10 heart disease 30.3 TGFB3 SMAD4 REN NOTCH1 LOX IL6
11 inguinal hernia 30.3 LOX IL6 FBN1 ELN
12 aortic aneurysm, familial thoracic 6 30.3 TGFBR1 SMAD3 MYLK MYH11 FBN1 ACTA2
13 aortic valve disease 2 30.2 REN FBN1 ELN
14 aortic aneurysm, familial thoracic 4 30.2 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 LOX
15 intracranial aneurysm 30.2 TGFBR2 TGFBR1 TGFB2 LOX ELN COL3A1
16 tricuspid valve insufficiency 30.2 REN MYH11 FBN1
17 loeys-dietz syndrome 30.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
18 telangiectasis 30.1 TGFBR1 SMAD4 FBN1 ELN
19 aneurysm 30.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20 hemopericardium 30.1 FBN1 ELN
21 arteriovenous malformation 30.1 TGFBR2 TGFBR1 SMAD4 IL6
22 hereditary hemorrhagic telangiectasia 30.1 TGFBR2 TGFBR1 TGFB2 SMAD4
23 weill-marchesani syndrome 30.1 LTBP3 FBN1 ELN
24 moyamoya disease 1 30.1 MYLK MYH11 ELN ACTA2
25 arterial tortuosity syndrome 30.1 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ELN
26 mitral valve insufficiency 30.1 REN MYH11 FBN1 ELN
27 retinal detachment 30.1 TGFB2 LOX IL6 ELN
28 varicose veins 30.1 IL6 FBN1 ELN
29 lipoprotein quantitative trait locus 30.1 TGFBR2 TGFB2 SMAD3 REN NOTCH1 MYH11
30 brittle bone disorder 30.1 LOX FBN1 ELN COL3A1 BGN
31 mitral valve disease 30.0 TGFB3 TGFB2 REN FBN1 ELN
32 arteriosclerosis 30.0 LOX IL6 FBN1 ELN
33 loeys-dietz syndrome 4 30.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
34 tricuspid valve prolapse 30.0 TGFBR2 TGFBR1 TGFB3 TGFB2 FBN1 COL3A1
35 tetralogy of fallot 30.0 SMAD4 REN NOTCH1 MYH11 FBN1 ELN
36 brachydactyly 30.0 SMAD4 REN FBN1 BGN
37 aortic valve disease 1 29.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
38 patent ductus arteriosus 1 29.9 TGFBR2 TGFBR1 REN NOTCH1 MYLK MYH11
39 loeys-dietz syndrome 3 29.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
40 orthostatic intolerance 29.7 TGFBR2 TGFBR1 TGFB2 SMAD3 REN MYH11
41 familial thoracic aortic aneurysm and aortic dissection 29.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
42 connective tissue disease 29.3 TGFBR2 TGFBR1 TGFB2 SMAD3 PRKG1 NOTCH1
43 calcific aortic disease with immunologic abnormalities, familial 11.0
44 aorta atresia 10.9
45 late-onset focal dermal elastosis 10.5 FBN1 ELN
46 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.5 FBN1 ELN
47 subclavian artery aneurysm 10.5 TGFBR2 FBN1
48 mitochondrial dna depletion syndrome 12b 10.5 TGFBR2 TGFBR1 FBN1
49 aortic aneurysm, familial thoracic 2 10.5 FBN1 COL3A1 ACTA2
50 pulsating exophthalmos 10.5 TGFBR2 TGFBR1 COL3A1

Graphical network of the top 20 diseases related to Aortic Disease:



Diseases related to Aortic Disease

Symptoms & Phenotypes for Aortic Disease

GenomeRNAi Phenotypes related to Aortic Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.92 TGFBR2
2 Decreased viability GR00221-A-1 9.92 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 9.92 COL3A1 PRKG1
4 Decreased viability GR00221-A-3 9.92 TGFBR2
5 Decreased viability GR00221-A-4 9.92 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6 Decreased viability GR00249-S 9.92 MYLK TGFBR1 TGFBR2
7 Decreased viability GR00301-A 9.92 PRKG1
8 Decreased viability GR00402-S-2 9.92 TGFBR1 TGFBR2

MGI Mouse Phenotypes related to Aortic Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.5 ACTA2 COL3A1 FBN1 IL6 LOX MFAP5
2 growth/size/body region MP:0005378 10.44 BGN COL3A1 FBN1 IL6 LOX LTBP3
3 behavior/neurological MP:0005386 10.39 BGN FBN1 IL6 LOX LTBP3 MYLK
4 immune system MP:0005387 10.39 BGN COL3A1 FBN1 IL6 LOX LTBP3
5 homeostasis/metabolism MP:0005376 10.38 BGN COL3A1 FBN1 IL6 LOX MYH11
6 cellular MP:0005384 10.37 BGN COL3A1 FBN1 IL6 MYH11 NOTCH1
7 hematopoietic system MP:0005397 10.34 COL3A1 FBN1 IL6 LOX MFAP5 NOTCH1
8 digestive/alimentary MP:0005381 10.31 COL3A1 IL6 MYH11 MYLK NOTCH1 PRKG1
9 mortality/aging MP:0010768 10.3 BGN COL3A1 FBN1 IL6 LOX LTBP3
10 craniofacial MP:0005382 10.25 BGN FBN1 LOX LTBP3 NOTCH1 SMAD3
11 muscle MP:0005369 10.2 ACTA2 BGN COL3A1 FBN1 IL6 LOX
12 embryo MP:0005380 10.18 FBN1 LOX NOTCH1 SMAD3 SMAD4 TGFB2
13 integument MP:0010771 10.17 BGN COL3A1 FBN1 IL6 LOX MYH11
14 limbs/digits/tail MP:0005371 9.95 BGN FBN1 LOX SMAD3 SMAD4 TGFB2
15 renal/urinary system MP:0005367 9.9 FBN1 IL6 MYH11 MYLK NOTCH1 PRKG1
16 neoplasm MP:0002006 9.8 IL6 LOX NOTCH1 SMAD3 SMAD4 TGFBR1
17 respiratory system MP:0005388 9.7 COL3A1 FBN1 IL6 LOX LTBP3 MYH11
18 skeleton MP:0005390 9.47 BGN FBN1 IL6 LOX LTBP3 MFAP5

Drugs & Therapeutics for Aortic Disease

Drugs for Aortic Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Clevidipine Approved, Investigational Phase 4 167221-71-8
5 Anesthetics Phase 4
6 Hypnotics and Sedatives Phase 4
7 Analgesics, Opioid Phase 4
8 Anesthetics, Intravenous Phase 4
9 Anesthetics, Inhalation Phase 4
10 Platelet Aggregation Inhibitors Phase 4
11 Anesthetics, General Phase 4
12 Pharmaceutical Solutions Phase 4
13 Antihypertensive Agents Phase 4
14 calcium channel blockers Phase 4
15 Calcium, Dietary Phase 4
16 Hormones Phase 4
17
Calcium Nutraceutical Phase 4 7440-70-2 271
18
tannic acid Approved 1401-55-4
19
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
20
Iron Approved 7439-89-6 23925 29936
21
Sodium citrate Approved, Investigational 68-04-2
22
Aminocaproic acid Approved, Investigational Early Phase 1 60-32-2 564
23
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
24 Complement System Proteins
25 Vasodilator Agents
26 Adrenergic alpha-Antagonists
27 Adrenergic beta-Antagonists
28 diuretics
29 Liver Extracts
30 Citrate
31 Antifibrinolytic Agents Early Phase 1
32 Coagulants Early Phase 1
33 Hemostatics Early Phase 1

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Opioid-potentiated Volative Anaesthetic(Sevoflurane)Compared to Remifentanil and Propofol During Abdominal Aortic Aneurysm Surgery Completed NCT00538421 Phase 4 Propofol;Sevoflurane
2 A Phase IV Multicenter Study of Iomeron®-400 Used With Multi-detector Computed Tomography Angiography (MDCTA) of the Thoraco-Abdominal Aorta, and the Carotid, Pulmonary, and Peripheral Arteries Completed NCT02596048 Phase 4
3 Effect of Propofol and Sevoflurane on Serum CD39 and CD73 Level After Open Heart Surgery With Cardiopulmonary Bypass Completed NCT02136979 Phase 4 Propofol;Sevoflurane
4 A Safety and Efficacy Study of Blood Pressure Control in Acute Aortic Emergencies - A Pilot Study (PROMPT) Terminated NCT01033370 Phase 4 clevidipine.
5 A Clinical Study of the TAG Thoracic Endoprosthesis in the Treatment of Thoracic Aortic Diseases for Non-Surgical Candidates Under the Physician Sponsored IDE. Completed NCT00757003 Phase 3
6 INvestigation of STEnt Grafts in Patients With Type B Aortic Dissection Completed NCT00525356 Phase 3
7 A Clinical Study Evaluating Use of the Thoracic EXCLUDER Endoprosthesis in the Treatment of Descending Thoracic Aortic Diseases Unknown status NCT00546312
8 Pro-inflammatory Cytokines (IL-1beta,IL-6, IL-8 and TNF-α) and Complement Activation (C3a) in Blood Collected From Surgery Field From Patients Undergoing Orthopedic Surgery Compared to Patients Undergoing Abdominal Aneurysm Repair. Unknown status NCT00851149
9 Significance of Serum Tenascin C in Patients With Acute Aortic Disease Unknown status NCT02816892
10 Chronic Q-fever in Patients With an Abdominal Aortic Disease (QAAD-study) Unknown status NCT01450501
11 Haemodynamic Response to Aortic Surgery Unknown status NCT01704391
12 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
13 Edwards SAPIEN XT Transcatheter Heart Valve Therapy for Patients With a Failing Aortic Bioprosthetic Valve Completed NCT03225001
14 Observational Registry Characterizing the Performance and Feature Use of the GORE® TAG® Conformable Thoracic Stent Graft Featuring ACTIVE CONTROL System Completed NCT03286400
15 Effect of DDD Pacing Titrated by Stepwise Changing of AVD on Aortic dP/dt Completed NCT03665558
16 Metabolic Equivalent of Task (MET) in the Preoperative Assessment in Aortic Surgery Completed NCT03617601
17 A Randomized European Study Comparing Endoluminal Stent Grafting and Best Medical Therapy (BMT) to BMT Alone in the Treatment of Acute Uncomplicated Type B Aortic Dissection Completed NCT00742274
18 Total Laparoscopic Versus Open Aortic Surgery for Abdominal Aortic Disease. A Prospective Study With Propensity Analysis Completed NCT02325700
19 Implementation of Non-size Markers Derived From 4D Flow MRI of Patients With Aortic Disease. Completed NCT02467062
20 Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia Completed NCT03651388
21 Exercise Therapy for Abdominal Aortic Aneurysm Disease: a Feasibility Study Completed NCT01234610
22 Evaluation of Clinical Outcomes of Transcatheter Aortic Valve Replacement in the Asian Pacific Population Completed NCT02308150
23 Screening With Pocket-sized Ultrasound of Patients Admitted to Department of Medicine at a Local Hospital Completed NCT01081210
24 Venous Distension in Patients With Aneurysmatic Arterial Disease Compared to the Venous Distension in Patients With Arterial Occlusive Disease Completed NCT02867501
25 Influence of Short AV Delay Pacing on Matrix Metalloproteinase Lives Completed NCT03727542
26 Influence on Diagnostics and Inpatient Workflow of Routinely Adding Ultrasound Screening by Pocket-size Ultrasound in a Medical Department Completed NCT01331187
27 Post-market Study on Endurant™ Stent Graft System in the Treatment of Infra-renal Abdominal Aortic Aneurysms Completed NCT01526811
28 B-SAFER: Branched Stented Anastomosis Frozen Elephant Trunk Repair Recruiting NCT04747626
29 A Prospective Observational Study Into Muscle Recovery Following Aortic Surgery Induced Intensive Care Unit-acquired Weakness (VARIANCE). Recruiting NCT03714399
30 Ultrasound-Guided Resuscitation in Open Aortic Surgery Recruiting NCT04180553
31 A Clinical Study, Spontaneous, Randomized and Controlled, on the Prevention of Surgical Wound Complications for Aneurysmal Thoracoabdominal Aortic Disease by Using the "PREVENA ™" Negative Topical Pressure System (TVAC STUDY) Recruiting NCT03512470
32 Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease Recruiting NCT04005976
33 A Randomized Controlled Trial of Mild vs. Moderate Hypothermia on Patient Outcomes in Aortic Hemiarch Surgery With Anterograde Cerebral Perfusion Recruiting NCT02860364
34 Proposed Single Center Investigational Device Exemption: Endovascular Repair of Descending ThoracoAbdominal Aortic Pathologies Using Physician Modified Endovascular Prosthesis Recruiting NCT02524834
35 Magnetic Resonance Imaging (MRI) for Aortic Dissection to Visualise Inflammation Recruiting NCT03948555
36 Mapping of Aortic Arch Hemodynamics by Biomechanical Analysis and Modeling for Planning Thoracic Endovascular Aortic Repair Recruiting NCT03824626
37 ACURATE neo2™ Post Market Clinical Follow up Study Recruiting NCT04655248
38 Identification of Genetic Causes of Calcific Aortic Valve Disease Recruiting NCT04149600
39 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
40 A Prospective and Retrospective, Multi-Centre, Post-Market, Non-Interventional Study of Terumo Aortic Knitted and Woven Grafts, and Cardiovascular Patches Recruiting NCT04545502
41 Post-market Study on Valiant Thoracic Stent Graft With the Captivia Delivery System in the Treatment of Descending Thoracic Aortic Diseases Active, not recruiting NCT01775046
42 A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases: The ReST Study Active, not recruiting NCT03861741
43 A Multi-center Prospective Open-Label Non-Randomized Clinical Study to Evaluate the Safety and Performance of the Single Branch Nexus™ Aortic Arch Stent Graft System. Active, not recruiting NCT03208504
44 Evaluation on the Treatment of Diseases of the Thoracic Aorta With the Thoracic Endoprosthesis GORE® TAG® Active, not recruiting NCT02266342
45 Endovascular Treatment of Thoracic Aortic Disease Enrolling by invitation NCT00583817
46 Relationship Between Morbimortality and Basal Activated Clotting Time (ACT) in Patients Undergoing Vascular Surgery Not yet recruiting NCT04703582
47 International Bicuspid Aortic Valve Consortium (BAVCon) Suspended NCT01980797
48 The Effect of Standard vs Aggressive Dosing Regimens for Epsilon-aminocaproic Acid on a Quantifiable Parameter of Fibrinolysis as Measured by Thromboelastography Terminated NCT01965730 Early Phase 1 epsilon-aminocaproic acid (EACA)
49 Surviving Aneurysm Surgery: A Pilot Randomised Controlled Trial on Exercise Training in Abdominal Aortic Aneurysm Patients Terminated NCT01805973
50 Assessment of Neurologic Injury Subsequent to Transcatheter Aortic Valve Replacement: A Feasibility Study Withdrawn NCT01927601

Search NIH Clinical Center for Aortic Disease

Cochrane evidence based reviews: aortic diseases

Genetic Tests for Aortic Disease

Anatomical Context for Aortic Disease

MalaCards organs/tissues related to Aortic Disease:

40
Spinal Cord, Heart, Smooth Muscle, Kidney, Endothelial, Liver, Lymph Node

Publications for Aortic Disease

Articles related to Aortic Disease:

(show top 50) (show all 2626)
# Title Authors PMID Year
1
Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. 54 61
20354336 2010
2
FBN1 mutations in patients with descending thoracic aortic dissections. 61 54
20082464 2010
3
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 54 61
16085695 2006
4
Extracellular matrix of the human aortic media: an ultrastructural histochemical and immunohistochemical study of the adult aortic media. 54 61
10603443 2000
5
Alginate hydrogel polymers enable efficient delivery of a vascular-targeted AAV vector into aortic tissue. 61
33768132 2021
6
A multicenter "real-world" study of the valiant NAVION stent graft. 61
33164839 2021
7
Marfan syndrome in children: correlation between musculoskeletal features and cardiac Z-score. 61
32932420 2021
8
Telemedicine for patients with valvular heart disease or aortic disease in the era of COVID-19. Response. 61
33495069 2021
9
[Telemedicine for patients with valvular heart disease or aortic disease in the era of COVID-19]. 61
33199935 2021
10
Telemedicine for patients with valvular heart disease or aortic disease in the era of COVID-19. 61
33455891 2021
11
[Telemedicine for patients with valvular heart disease or aortic disease in the era of COVID-19. Response]. 61
33288972 2021
12
Prescreening and treatment of aortic dissection through an analysis of infinite-dimension data. 61
33794946 2021
13
Evolution of fenestrated/branched endovascular aortic aneurysm repair complexity and outcomes at an organized center for the treatment of complex aortic disease. 61
33766243 2021
14
Aortitis masquerading as intramural hematoma: When to observe, when to operate? A case report. 61
33502772 2021
15
Highly accelerated aortic 4D flow MRI using compressed sensing: Performance at different acceleration factors in patients with aortic disease. 61
33107141 2021
16
Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease. 61
33334864 2021
17
Body Mass Index and Mortality From Aortic Aneurysm and Dissection. 61
32727971 2021
18
Aortic Distensibility Can Predict Events in Patients With Premature Coronary Artery Disease: A Cardiac Magnetic Resonance Study. 61
33191760 2021
19
Physiology and role of PCSK9 in vascular disease: Potential impact of localized PCSK9 in vascular wall. 61
32875580 2021
20
Fluoroquinolones and Aortic Disease-Reply. 61
33646261 2021
21
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. 61
33736427 2021
22
Genetic aortic disease epidemiology, management principles, and disparities in care. 61
33757640 2021
23
A novel approach to percutaneous aortic thrombectomy. 61
33718682 2021
24
Fluoroquinolones and Aortic Disease. 61
33646264 2021
25
Bailed out by TEVAR in a horrendous bleeding aortic arch cannulation site. 61
33743256 2021
26
Fluoroquinolones and Aortic Disease-Is It Time to Broaden the Warning? 61
33404599 2021
27
Transapical aortic valve implantation: never limited by aortic disease or vascular access, but always needed? 61
33772311 2021
28
Simple Retrieval Technique of the Elephant Trunk by Partial Aortic Clamping. 61
33744196 2021
29
Is Aortic Z-score an Appropriate Index of Beneficial Drug Effect in Clinical Trials in Aortic Aneurysm Disease? 61
33352210 2021
30
Spinal infarcts. 61
33775442 2021
31
Prevalence of Intracranial Aneurysm in Patients With Aortic Disease in Korea: A Nationwide Population-Based Study. 61
33719493 2021
32
Bentall-de Bono procedure for acute aortic dissection. 61
33691047 2021
33
Exercise parameters for the chronic type B aortic dissection patient: a literature review and case report. 61
32940109 2021
34
GDF11 prevents the formation of thoracic aortic dissection in mice: Promotion of contractile transition of aortic SMCs. 61
33764670 2021
35
Aortic Dissection in Familial Patients with Autosomal Dominant Polycystic Kidney Disease. 61
33786104 2021
36
A Systematic Review of Total Thoracic Endovascular Aortic Repair in Treatment of Kommerell Diverticulum Combined with Right-Sided Aortic Arch. 61
33755659 2021
37
Impact of diverse aortic pathologies on outcomes after transapical transcatheter aortic valve replacement. 61
33783007 2021
38
Commentary: How to save and improve the lives of families with heritable aortic diseases. 61
33781592 2021
39
Risk modeling in transcatheter aortic valve replacement remains unsolved: an external validation study in 2946 German patients. 61
32851491 2021
40
Transapical transcatheter aortic valve implantation in patients with aortic diseases. 61
33709139 2021
41
Management and outcome of paediatric testicular tumours - A 20 year experience. 61
33789803 2021
42
Thymosin β4 protects against aortic aneurysm via endocytic regulation of growth factor signaling. 61
33784254 2021
43
Importance of NLRP3 Inflammasome in Abdominal Aortic Aneurysms. 61
33678767 2021
44
Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm. 61
33709773 2021
45
A "sneaky" symptom of aortic dissection. Brief literature review, physiopathology and diagnostic tools management. 61
33792232 2021
46
Coronary artery aneurysms in patients with Marfan syndrome: frequent, progressive and relevant: Coronary artery aneurysms in Marfan syndrome. 61
33711475 2021
47
Obstructive Sleep Apnea, Palatal Morphology, and Aortic Dilatation in Marfan Syndrome Growing Subjects: A Retrospective Study. 61
33809552 2021
48
Clinical outcomes of endovascular treatment for ruptured thoracic aortic disease. 61
32264656 2021
49
Impact of pre-existent vascular and poly-vascular disease on acute myocardial infarction management and outcomes: An analysis of 2 million patients from the National Inpatient Sample. 61
33271206 2021
50
Splanchnic occlusive disease predicts spinal cord injury after open descending thoracic and thoraco-abdominal aneurysm repair. 61
33677031 2021

Variations for Aortic Disease

Expression for Aortic Disease

Search GEO for disease gene expression data for Aortic Disease.

Pathways for Aortic Disease

Pathways related to Aortic Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
Show member pathways
13.71 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Show member pathways
13.61 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4
Show member pathways
13.58 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5
Show member pathways
13.49 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
6
Show member pathways
13.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 REN
7
Show member pathways
13.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
8
Show member pathways
13.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
9
Show member pathways
13.15 TGFBR1 TGFB3 TGFB2 LTBP3 IL6 FBN1
10
Show member pathways
13.09 TGFBR1 TGFB3 TGFB2 REN LTBP3 IL6
11
Show member pathways
13.02 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
12
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK IL6
13 12.94 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.93 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15
Show member pathways
12.87 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
16
Show member pathways
12.78 TGFB3 TGFB2 MFAP5 LTBP3 LOX FBN1
17
Show member pathways
12.68 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
18
Show member pathways
12.58 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
19
Show member pathways
12.5 PRKG1 MYLK MYH11 ACTA2
20
Show member pathways
12.43 TGFB3 TGFB2 LTBP3 IL6 ACTA2
21 12.43 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
22 12.39 TGFB3 TGFB2 SMAD4 SMAD3
23 12.36 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
24
Show member pathways
12.35 TGFBR2 TGFBR1 SMAD3 IL6
25
Show member pathways
12.33 TGFBR2 TGFBR1 SMAD4 SMAD3
26
Show member pathways
12.32 TGFBR1 TGFB3 TGFB2 LTBP3 IL6
27
Show member pathways
12.32 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
28 12.26 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
29 12.26 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
30 12.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 IL6
31 12.2 TGFBR1 SMAD4 SMAD3 MYLK ACTA2
32 12.14 TGFBR2 TGFBR1 SMAD4 SMAD3
33
Show member pathways
12.11 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
34 12.03 SMAD4 SMAD3 IL6 COL3A1
35 12.02 TGFB3 TGFB2 IL6 BGN ACTA2
36 12.01 TGFB3 TGFB2 IL6 COL3A1
37
Show member pathways
12.01 TGFBR2 TGFBR1 SMAD4 SMAD3 IL6
38 11.98 TGFBR1 TGFB3 TGFB2 REN NOTCH1
39 11.98 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
40
Show member pathways
11.9 TGFBR2 TGFBR1 SMAD4 SMAD3 LOX
41 11.88 TGFB3 TGFB2 IL6
42 11.85 TGFBR2 TGFBR1 SMAD4 SMAD3
43 11.84 TGFBR2 TGFBR1 SMAD4 SMAD3
44 11.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
45
Show member pathways
11.83 TGFBR2 TGFBR1 SMAD4 SMAD3
46 11.79 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
47
Show member pathways
11.76 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
48 11.74 TGFBR2 TGFBR1 SMAD4 SMAD3
49 11.73 TGFB3 TGFB2 IL6
50
Show member pathways
11.73 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3

GO Terms for Aortic Disease

Cellular components related to Aortic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 TGFB3 TGFB2 REN LOX IL6 FBN1
2 extracellular region GO:0005576 9.73 TGFB3 TGFB2 REN NOTCH1 MFAP5 LTBP3
3 receptor complex GO:0043235 9.71 TGFBR2 TGFBR1 SMAD3 NOTCH1
4 extracellular matrix GO:0031012 9.63 MFAP5 LOX FBN1 ELN COL3A1 BGN
5 microfibril GO:0001527 9.43 MFAP5 FBN1
6 heteromeric SMAD protein complex GO:0071144 9.37 SMAD4 SMAD3
7 SMAD protein complex GO:0071141 9.32 SMAD4 SMAD3
8 collagen-containing extracellular matrix GO:0062023 9.23 TGFB3 TGFB2 MFAP5 LTBP3 FBN1 ELN

Biological processes related to Aortic Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.18 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1 IL6
2 positive regulation of cell proliferation GO:0008284 10.16 TGFBR2 TGFBR1 TGFB3 TGFB2 NOTCH1 IL6
3 positive regulation of gene expression GO:0010628 10.13 TGFBR1 SMAD3 NOTCH1 IL6 ACTA2
4 negative regulation of cell proliferation GO:0008285 10.04 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
5 positive regulation of cell migration GO:0030335 10.03 TGFBR1 SMAD3 NOTCH1 MYLK
6 regulation of cell proliferation GO:0042127 10.02 TGFBR2 TGFB3 TGFB2 SMAD4 NOTCH1
7 response to hypoxia GO:0001666 10 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
8 extracellular matrix organization GO:0030198 9.99 MFAP5 LOX FBN1 ELN COL3A1 BGN
9 cell cycle arrest GO:0007050 9.98 TGFBR1 TGFB2 SMAD3 NOTCH1
10 male gonad development GO:0008584 9.97 TGFBR1 TGFB2 SMAD4 REN
11 in utero embryonic development GO:0001701 9.95 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1
12 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.93 TGFBR2 TGFBR1 TGFB3 SMAD3
13 BMP signaling pathway GO:0030509 9.93 TGFB3 TGFB2 SMAD4 SMAD3
14 kidney development GO:0001822 9.93 TGFBR1 TGFB2 SMAD4 REN FBN1
15 lung development GO:0030324 9.91 TGFBR2 NOTCH1 LOX
16 heart development GO:0007507 9.91 TGFBR2 TGFBR1 TGFB2 NOTCH1 LOX FBN1
17 SMAD protein signal transduction GO:0060395 9.9 TGFB3 TGFB2 SMAD4 SMAD3
18 heart looping GO:0001947 9.89 TGFBR2 SMAD3 NOTCH1
19 cellular response to transforming growth factor beta stimulus GO:0071560 9.89 TGFBR1 SMAD3 FBN1
20 positive regulation of stress fiber assembly GO:0051496 9.88 TGFBR1 TGFB3 SMAD3
21 outflow tract morphogenesis GO:0003151 9.88 TGFBR2 NOTCH1 ELN
22 skeletal system development GO:0001501 9.88 TGFBR1 TGFB2 SMAD3 LTBP3 FBN1 COL3A1
23 epithelial to mesenchymal transition GO:0001837 9.87 TGFBR1 TGFB2 NOTCH1
24 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.86 TGFB2 SMAD4 SMAD3
25 gastrulation GO:0007369 9.85 TGFBR2 SMAD4 SMAD3
26 embryonic cranial skeleton morphogenesis GO:0048701 9.85 TGFBR2 TGFBR1 SMAD3
27 collagen fibril organization GO:0030199 9.85 TGFBR1 TGFB2 LOX COL3A1
28 neuron fate commitment GO:0048663 9.84 TGFBR1 SMAD4 NOTCH1
29 endoderm development GO:0007492 9.83 SMAD4 SMAD3 NOTCH1
30 cell-cell junction organization GO:0045216 9.83 TGFB3 TGFB2 SMAD3
31 outflow tract septum morphogenesis GO:0003148 9.83 TGFBR2 TGFB2 SMAD4
32 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.83 TGFBR1 TGFB3 TGFB2 SMAD4
33 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.82 SMAD4 SMAD3 LOX
34 activin receptor signaling pathway GO:0032924 9.79 TGFBR2 TGFBR1 SMAD3
35 positive regulation of SMAD protein signal transduction GO:0060391 9.79 TGFBR1 TGFB3 SMAD4
36 pathway-restricted SMAD protein phosphorylation GO:0060389 9.77 TGFBR2 TGFBR1 TGFB2
37 cardiac epithelial to mesenchymal transition GO:0060317 9.76 TGFBR1 TGFB2 NOTCH1
38 ventricular trabecula myocardium morphogenesis GO:0003222 9.75 TGFBR1 TGFB2 NOTCH1
39 regulation of epithelial cell proliferation GO:0050678 9.74 SMAD3 NOTCH1
40 smooth muscle contraction GO:0006939 9.74 MYLK MYH11
41 pulmonary valve morphogenesis GO:0003184 9.74 TGFB2 NOTCH1
42 uterus development GO:0060065 9.74 TGFB2 SMAD4
43 supramolecular fiber organization GO:0097435 9.74 MFAP5 COL3A1
44 response to cholesterol GO:0070723 9.74 TGFBR2 TGFBR1
45 atrioventricular valve morphogenesis GO:0003181 9.74 TGFBR2 TGFB2 NOTCH1
46 cardiac muscle cell proliferation GO:0060038 9.73 TGFB2 NOTCH1
47 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.73 SMAD4 NOTCH1
48 endothelial cell activation GO:0042118 9.73 TGFBR1 SMAD4
49 cardiac left ventricle morphogenesis GO:0003214 9.73 TGFBR2 NOTCH1
50 elastic fiber assembly GO:0048251 9.73 MYH11 LTBP3 LOX

Molecular functions related to Aortic Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.65 MFAP5 FBN1 ELN COL3A1 BGN
2 collagen binding GO:0005518 9.61 SMAD4 SMAD3 LOX
3 SMAD binding GO:0046332 9.58 TGFBR2 TGFBR1 SMAD3
4 transforming growth factor beta receptor binding GO:0005160 9.54 TGFB3 TGFB2 SMAD3
5 activin binding GO:0048185 9.52 TGFBR2 TGFBR1
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.51 TGFBR2 TGFBR1
7 I-SMAD binding GO:0070411 9.5 TGFBR1 SMAD4 SMAD3
8 type I transforming growth factor beta receptor binding GO:0034713 9.49 TGFBR2 TGFB3
9 extracellular matrix constituent conferring elasticity GO:0030023 9.48 FBN1 ELN
10 transforming growth factor beta-activated receptor activity GO:0005024 9.46 TGFBR2 TGFBR1
11 type II transforming growth factor beta receptor binding GO:0005114 9.33 TGFBR1 TGFB3 TGFB2
12 type III transforming growth factor beta receptor binding GO:0034714 9.13 TGFBR2 TGFB3 TGFB2
13 transforming growth factor beta binding GO:0050431 8.92 TGFBR2 TGFBR1 TGFB3 LTBP3

Sources for Aortic Disease

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