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 43 71
Disorder of the Aorta 12
Aortic Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:520
MeSH 43 D001018
NCIt 49 C101253
SNOMED-CT 67 47040006
UMLS 71 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 dissection. An important gene associated with Aortic Disease is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Remifentanil and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and testes, 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 220)
# Related Disease Score Top Affiliating Genes
1 heritable thoracic aortic disease 33.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2 aortic dissection 32.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3 aortic aneurysm 31.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4 aortic aneurysm, familial abdominal, 1 31.2 MIR199A1 IL6 FBN1 ELN
5 marfan syndrome 31.0 TGFBR2 TGFBR1 TGFB2 NOTCH1 MYLK MYH11
6 ehlers-danlos syndrome 30.9 TGFBR1 MYH11 FBN1 ELN COL3A1
7 aortic aneurysm, familial thoracic 2 30.9 FBN1 COL3A1 ACTA2
8 aortic aneurysm, familial thoracic 6 30.8 TGFBR1 MYLK MYH11 ACTA2
9 vascular disease 30.8 REN MIR199A1 IL6 ELN ACTA2
10 aortic valve insufficiency 30.7 TGFBR2 TGFBR1 REN MYH11 FBN1 ELN
11 loeys-dietz syndrome 4 30.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
12 ehlers-danlos syndrome, vascular type 30.6 ELN COL3A1
13 loeys-dietz syndrome 5 30.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
14 aortic aneurysm, familial thoracic 1 30.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15 arterial tortuosity syndrome 30.4 TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
16 aortic valve disease 2 30.4 REN NOTCH1 MIR199A1 FBN1 ELN
17 inguinal hernia 30.4 LOX IL6 FBN1 ELN
18 lipoprotein quantitative trait locus 30.3 REN MIR199A1 IL6 ELN
19 loeys-dietz syndrome 30.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20 arteriosclerosis 30.3 LOX IL6 FBN1 ELN
21 loeys-dietz syndrome 1 30.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYLK
22 hereditary hemorrhagic telangiectasia 30.3 TGFBR2 TGFBR1 TGFB2 SMAD4
23 mitral valve insufficiency 30.3 REN FBN1 ELN
24 telangiectasis 30.2 TGFBR1 SMAD4 FBN1 ELN
25 loeys-dietz syndrome 3 30.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26 moyamoya disease 1 30.2 MYLK MYH11 ELN ACTA2
27 varicose veins 30.2 IL6 FBN1 ELN COL3A1
28 arteriovenous malformation 30.2 TGFBR2 TGFBR1 IL6
29 brittle bone disorder 30.2 FBN1 ELN COL3A1 BGN
30 retinal detachment 30.1 TGFB2 LOX IL6 ELN
31 mitral valve disease 30.1 TGFB3 TGFB2 REN FBN1 ELN
32 heart valve disease 30.1 REN MIR199A1 FBN1 ELN
33 intracranial aneurysm 30.1 TGFBR2 TGFBR1 TGFB2 LOX ELN COL3A1
34 aneurysm 30.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
35 aortic valve disease 1 30.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
36 urinary tract obstruction 30.0 SMAD3 REN MIR199A1
37 tetralogy of fallot 30.0 SMAD4 REN NOTCH1 MYH11 FBN1 ELN
38 tricuspid valve prolapse 30.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
39 heart septal defect 30.0 NOTCH1 MIR199A1 ELN
40 cerebrovascular disease 30.0 REN MIR199A1 IL6 ACTA2
41 brachydactyly 29.9 SMAD4 REN FBN1 BGN
42 patent ductus arteriosus 1 29.9 TGFBR2 TGFBR1 REN NOTCH1 MYH11 FBN1
43 heart disease 29.6 TGFB3 SMAD4 REN NOTCH1 MIR199A1 IL6
44 orthostatic intolerance 29.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 REN
45 familial thoracic aortic aneurysm and aortic dissection 29.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
46 connective tissue disease 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 PRKG1 NOTCH1
47 hypertrophic cardiomyopathy 29.2 TGFB3 TGFB2 REN IL6 COL3A1
48 calcific aortic disease with immunologic abnormalities, familial 12.1
49 aorta atresia 11.0
50 late-onset focal dermal elastosis 10.7 FBN1 ELN

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:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.49 ACTA2 COL3A1 FBN1 IL6 LOX MFAP5
2 homeostasis/metabolism MP:0005376 10.38 BGN COL3A1 FBN1 IL6 LOX MYH11
3 cellular MP:0005384 10.36 BGN COL3A1 FBN1 IL6 MYH11 NOTCH1
4 growth/size/body region MP:0005378 10.36 BGN COL3A1 FBN1 IL6 MYH11 MYLK
5 immune system MP:0005387 10.36 BGN COL3A1 FBN1 IL6 LOX MFAP5
6 hematopoietic system MP:0005397 10.34 COL3A1 FBN1 IL6 LOX MFAP5 NOTCH1
7 mortality/aging MP:0010768 10.31 BGN COL3A1 FBN1 IL6 LOX MYH11
8 digestive/alimentary MP:0005381 10.3 COL3A1 IL6 MYH11 MYLK NOTCH1 PRKG1
9 muscle MP:0005369 10.24 ACTA2 BGN COL3A1 FBN1 IL6 LOX
10 integument MP:0010771 10.17 BGN COL3A1 FBN1 IL6 LOX MYH11
11 craniofacial MP:0005382 10.14 BGN FBN1 NOTCH1 SMAD3 SMAD4 TGFB2
12 nervous system MP:0003631 10 FBN1 IL6 NOTCH1 PRKG1 REN SMAD3
13 renal/urinary system MP:0005367 9.9 FBN1 IL6 MYH11 MYLK NOTCH1 PRKG1
14 neoplasm MP:0002006 9.87 IL6 LOX NOTCH1 SMAD3 SMAD4 TGFBR1
15 respiratory system MP:0005388 9.65 COL3A1 FBN1 IL6 LOX MYH11 NOTCH1
16 skeleton MP:0005390 9.44 BGN FBN1 IL6 LOX MFAP5 MYLK

Drugs & Therapeutics for Aortic Disease

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Clevidipine Approved, Investigational Phase 4 167221-71-8
5 Hypnotics and Sedatives Phase 4
6 Analgesics, Opioid Phase 4
7 Anesthetics, General Phase 4
8 Anesthetics, Inhalation Phase 4
9 Platelet Aggregation Inhibitors Phase 4
10 Anesthetics, Intravenous Phase 4
11 Hormones Phase 4
12 Antihypertensive Agents Phase 4
13 Calcium, Dietary Phase 4
14 calcium channel blockers Phase 4
15
Calcium Nutraceutical Phase 4 7440-70-2 271
16 Hemostatics Phase 2, Phase 3
17
Nicardipine Approved, Investigational Phase 2 55985-32-5 4474
18 Vasodilator Agents Phase 2
19 Urapidil Investigational Phase 1 34661-75-1
20 Adrenergic alpha-Antagonists Phase 1
21 Serotonin Receptor Agonists Phase 1
22 Adrenergic Antagonists Phase 1
23 Adrenergic Agents Phase 1
24 Neurotransmitter Agents Phase 1
25 Adrenergic alpha-1 Receptor Antagonists Phase 1
26
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
27
tannic acid Approved 1401-55-4
28
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
29
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
30
Sodium citrate Approved, Investigational 68-04-2
31 sodium fluoride Approved 7681-49-4
32
Aminocaproic acid Approved, Investigational Early Phase 1 60-32-2 564
33
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
34 Complement System Proteins
35 Pharmaceutical Solutions
36 Adrenergic beta-Antagonists
37 diuretics
38 Liver Extracts
39 Citrate
40
Ethylene 74-85-1 6325
41 Anesthetics
42 Fluorides
43 Anti-Infective Agents, Local
44 Protective Agents
45 Listerine
46 Anti-Infective Agents
47 Antifibrinolytic Agents Early Phase 1
48 Coagulants Early Phase 1

Interventional clinical trials:

(show top 50) (show all 91)
# 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 Effect of Propofol and Sevoflurane on Serum CD39 and CD73 Level After Open Heart Surgery With Cardiopulmonary Bypass Completed NCT02136979 Phase 4 Propofol;Sevoflurane
3 A Safety and Efficacy Study of Blood Pressure Control in Acute Aortic Emergencies - A Pilot Study (PROMPT) Terminated NCT01033370 Phase 4 clevidipine.
4 INvestigation of STEnt Grafts in Patients With Type B Aortic Dissection Completed NCT00525356 Phase 3
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 The Hemostatic Potential of TDM-621 on Ascending Aortic Surgery Recruiting NCT03917862 Phase 2, Phase 3
7 Proprotein Convertase Subtilisin Kexin Type 9 Inhibitor in Aortic Stenosis Unknown status NCT03051360 Phase 2 PCSK9 Inhibitor [EPC];Placebos
8 Phase II Trial to Investigate the Benefit of Elective Para-Aortic Radiotherapy (PART) for pN1 Prostate Cancer Using Arc Therapy (IMAT/VMAT) Recruiting NCT03079323 Phase 2
9 NICardipine Neuroprotection in AortiC Surgery (NICNACS) Terminated NCT00508118 Phase 2 Nicardipine;0.9% saline
10 Intensive Blood PRessure Control in Patients With Acute Type B AortIc Dissection (RAID): Study Protocol for Randomized Controlled Trial Unknown status NCT03001739 Phase 1 Urapidil Hydrochloride Injection
11 Significance of Serum Tenascin C in Patients With Acute Aortic Disease Unknown status NCT02816892
12 Study of the Molecular Mechanisms Associated With the Formation of Human Aortic Aneurysm: a Focus on Autophagy, Oxidative Stress and Hippo Signaling Unknown status NCT03211000
13 A Clinical Study Evaluating Use of the Thoracic EXCLUDER Endoprosthesis in the Treatment of Descending Thoracic Aortic Diseases Unknown status NCT00546312
14 Chronic Q-fever in Patients With an Abdominal Aortic Disease (QAAD-study) Unknown status NCT01450501
15 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
16 Haemodynamic Response to Aortic Surgery Unknown status NCT01704391
17 Endovascular Aortic Repair for Aortic Dissection------XiJing Registry Unknown status NCT01505309
18 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
19 Hybrid Operation in Thoracic Aortic Dissection---Registry of China Unknown status NCT01500395
20 Total Endovascular Aortic Arch Re-construction Study(TEARS)------China's Registry Unknown status NCT01496833
21 Investigation of the Cerebrospinal Fluid and Further Tissue Samples for Biomarker Indicating Spinal Ischemia and Organ Failure in Patients With Thoracoabdominal Aortic Aneurysm Unknown status NCT03093857
22 Role of Circulating MicroRNAs in Pathogenesis of Aneurysms of the Abdominal and Thoracic Aorta - Study "Micro AAA" Unknown status NCT03090763
23 Clinical Study on Evaluation of Total Endovascular Aortic Arch Repair Unknown status NCT03347812
24 Magnetic Resonance Neurological Evaluation After Right Mini-thoracotomy Mitral Valve Surgery: Trans-thoracic Versus Endoaortic Clamp Unknown status NCT02818166
25 Implementation of Non-size Markers Derived From 4D Flow MRI of Patients With Aortic Disease. Completed NCT02467062
26 Total Laparoscopic Versus Open Aortic Surgery for Abdominal Aortic Disease. A Prospective Study With Propensity Analysis Completed NCT02325700
27 Evaluation of Clinical Outcomes of Transcatheter Aortic Valve Replacement in the Asian Pacific Population Completed NCT02308150
28 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
29 Metabolic Equivalent of Task (MET) in the Preoperative Assessment in Aortic Surgery Completed NCT03617601
30 Venous Distension in Patients With Aneurysmatic Arterial Disease Compared to the Venous Distension in Patients With Arterial Occlusive Disease Completed NCT02867501
31 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
32 Long Term Follow-up and Clinical Implications in Chinese Patients With Aortic Intramural Hematoma Completed NCT03424785
33 Incidence of Cancers in Patients With Atherosclerotic Cardiovascular Diseases Completed NCT03005834
34 Influence on Diagnostics and Inpatient Workflow of Routinely Adding Ultrasound Screening by Pocket-size Ultrasound in a Medical Department Completed NCT01331187
35 The VIRTUE Post Marketing Surveillance Registry - VALIANT Thoracic Stent Graft Evaluation For the Treatment of Descending Thoracic Aortic Dissections Completed NCT01213589
36 Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia Completed NCT03651388
37 Screening With Pocket-sized Ultrasound of Patients Admitted to Department of Medicine at a Local Hospital Completed NCT01081210
38 Post-market Study on Endurant™ Stent Graft System in the Treatment of Infra-renal Abdominal Aortic Aneurysms Completed NCT01526811
39 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm : Prevalence, Description of the Different Thoracic Aortic Phenotypes by Aortic Volumetric Numerized Imaging and Their Relationship With Epidemiologic, Clinical, Biological and Genetic Factors Completed NCT01599533
40 Clinical Investigation Of The Mitroflow Aortic Pericardial Heart Valve Completed NCT00630916
41 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
42 Cardiovascular Risk Factors in the Initial Presentation of Specific Cardiovascular Disease Syndromes: a CALIBER Proposal Using Linked GPRD-MINAP-HES Data Completed NCT01804439
43 A New Cardiopulmonary By-pass System That Minimizes Haemodilution, Hemolysis and Systemic Inflammation. Effects on Organ Damage and Surgical Outcome Completed NCT01805466
44 Effect of DDD Pacing Titrated by Stepwise Changing of AVD on Aortic dP/dt Completed NCT03665558
45 Exercise Therapy for Abdominal Aortic Aneurysm Disease: a Feasibility Study Completed NCT01234610
46 Influence of Short AV Delay Pacing on Matrix Metalloproteinase Lives Completed NCT03727542
47 Cardiac MR of Subclinical CVD: Impact of Age Completed NCT00041418
48 Observational Study on Peripheral Vascular Disease, Glucometabolic Status, and Type D Personality in Patients With Acute Myocardial Infarction. Completed NCT01452178
49 Comparative Clinical and Economic Analysis of Percutaneous vs. Open Access for Endovascular Aortic Repair - a Prospective, Randomised Trial. Completed NCT02822560
50 Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease Recruiting NCT04005976

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
Heart, Spinal Cord, Testes, Smooth Muscle, Kidney, Brain, Liver

Publications for Aortic Disease

Articles related to Aortic Disease:

(show top 50) (show all 2450)
# Title Authors PMID Year
1
Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. 61 54
20354336 2010
2
FBN1 mutations in patients with descending thoracic aortic dissections. 54 61
20082464 2010
3
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 61 54
16085695 2006
4
Extracellular matrix of the human aortic media: an ultrastructural histochemical and immunohistochemical study of the adult aortic media. 61 54
10603443 2000
5
Prediction of adverse events in patients with initially medically treated type A intramural hematoma. 61
32223964 2020
6
Endovascular Treatment of a Ruptured Pararenal Abdominal Aortic Aneurysm in a Patient With Coronavirus Disease-2019: Suggestions and Case Report. 61
32422288 2020
7
Impact of histopathological changes in ascending aortic diseases. 61
32331910 2020
8
Clinical Characteristics and Long-Term Outcomes of Midaortic Syndrome. 61
31923594 2020
9
Readmissions after acute type B aortic dissection. 61
31839347 2020
10
The sympathetic transmitter norepinephrine inhibits VSMC proliferation induced by TGFβ by suppressing the expression of the TGFβ receptor ALK5 in aorta remodeling. 61
32319652 2020
11
Mid-term outcomes of valve-sparing root reimplantation with leaflet repair. 61
32187353 2020
12
Circulating microRNAs vs. aortic diameter in bicuspid aortic valve aortopathy. 61
32498553 2020
13
Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases. 61
32519797 2020
14
Cardiovascular Considerations in Caring for Pregnant Patients: A Scientific Statement From the American Heart Association. 61
32362133 2020
15
Fibrillin-1 in the Vasculature: In Vivo Accumulation of eGFP-Tagged Fibrillin-1 in a Knockin Mouse Model. 61
31251835 2020
16
[Total Arch Replacement with Open Stent Grafting Technique for an Aberrant Subclavian Artery Cousing Dysphagia;Report of a Case]. 61
32475970 2020
17
Peri-operative outcomes of carotid-subclavian bypass or transposition versus endovascular techniques for left subclavian artery revascularization during non-traumatic zone 2 thoracic endovascular aortic repair in the Vascular Quality Initiative. 61
32505683 2020
18
Combined fenestrated-branched endovascular repair of the aortic arch and the thoracoabdominal aorta. 61
32081476 2020
19
Effects of Extracellular Matrix Softening on Vascular Smooth Muscle Cell Dysfunction. 61
32500384 2020
20
Use of 3D Printing to Guide Creation of Fenestrations in Physician-Modified Stent-Grafts for Treatment of Thoracoabdominal Aortic Disease. 61
32517556 2020
21
Building on a genetic framework: Can we personalize the timing of surgical repair for patients with heritable thoracic aortic disease? 61
32563574 2020
22
A substitution in cGMP-dependent protein kinase 1 associated with aortic disease induces an active conformation in the absence of cGMP. 61
32506052 2020
23
One-Year Results From the SURPASS Observational Registry of the CTAG Stent-Graft With the Active Control System. 61
32193990 2020
24
Aortic valve repair with a newly approved geometric annuloplasty ring in patients undergoing proximal aortic repair: early results from a single-centre experience. 61
32011669 2020
25
Beyond the term penetrating aortic ulcer: A morphologic descriptor covering a constellation of entities with different prognoses. 61
32497587 2020
26
The added value of CT virtual angioscopy to MDCT angiography in the evaluation of aortic diseases. 61
32564211 2020
27
Application of Computed Tomography Scan Combined with Electrocardiographic Gating in Hypertensive Patients with Brain and Nerve Diseases. 61
31917307 2020
28
Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry. 61
31568749 2020
29
Pulmonary Hypertension in Adults with Congenital Heart Disease: Real-World Data from the International COMPERA-CHD Registry. 61
32414075 2020
30
Biologic therapy in supra-aortic Takayasu arteritis can improve symptoms of cerebral ischaemia without surgical intervention. 61
32348517 2020
31
Follow-up results of aortic arch cervical debranching performed with the help of a temporary crossover external carotid artery bypass for cerebral protection followed by endovascular thoracic aortic aneurysm repair. 61
32073125 2020
32
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy. 61
32451364 2020
33
Cyclodextrin Prevents Abdominal Aortic Aneurysm via Activation of Vascular Smooth Muscle Cell TFEB. 61
32354235 2020
34
The association between simple renal cyst and aortic diseases: A systematic review and meta-analysis of observational studies. 61
32452169 2020
35
Results of frozen elephant trunk from the international E-vita Open registry. 61
32551250 2020
36
Risk of adding prophylactic aorta replacement to a cardiac operation. 61
31256966 2020
37
Acute Type A Aortic Dissection Complicated by COVID-19 Infection. 61
32437675 2020
38
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. 61
30287593 2020
39
Preventive effect of low-dose landiolol on postoperative atrial fibrillation study (PELTA study). 61
32372277 2020
40
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
41
Gender Related Access Complications After TEVAR: Analysis from the Retrospective Multicentre Cohort GORE® GREAT Registry Study. 61
32402803 2020
42
Safety and Long-Term Patency of Endovascular Therapy for Infrarenal Aortic Disease: Single-Center Experience and Review of the Literature. 61
32357131 2020
43
Thoracic aortic disease: Can we safely cover the branches? 61
32421238 2020
44
Predictors of 30-day readmission and resource utilization after thoracic endovascular aortic repair. 61
32386207 2020
45
Parallel Covered Stents Technique in the Treatment of Abdominal Aortic Diseases. 61
32127313 2020
46
Fibrinolysis and the Influence of Tranexamic Acid Dosing in Cardiac Surgery. 61
32434719 2020
47
Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). 61
32464348 2020
48
Inherited Thoracic Aortic Disease: New Insights and Translational Targets. 61
32392100 2020
49
Diffuse idiopathic skeletal hyperostosis: Etiology and clinical relevance. 61
32456997 2020
50
Clostridium septicum-infected aortic aneurysm or graft is a deadly diagnosis. 61
31843297 2020

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 62)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
Show member pathways
13.74 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Show member pathways
13.58 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
4
Show member pathways
13.48 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
5
Show member pathways
13.33 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6
Show member pathways
13.16 TGFBR1 TGFB3 TGFB2 IL6 FBN1 ELN
7
Show member pathways
13.12 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
8
Show member pathways
13.02 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
9
Show member pathways
12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK IL6
10
Show member pathways
12.93 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11 12.93 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12
Show member pathways
12.86 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
13
Show member pathways
12.82 TGFB3 TGFB2 MFAP5 LOX FBN1 ELN
14
Show member pathways
12.65 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15
Show member pathways
12.57 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
16 12.42 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17 12.39 TGFB3 TGFB2 SMAD4 SMAD3
18
Show member pathways
12.35 TGFBR2 TGFBR1 SMAD3 IL6
19 12.35 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
20
Show member pathways
12.33 TGFBR2 TGFBR1 SMAD4 SMAD3
21
Show member pathways
12.32 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
22 12.26 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23 12.25 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 IL6
24
Show member pathways
12.21 TGFBR1 PRKG1 MYLK MIR199A1
25 12.19 TGFBR1 SMAD4 SMAD3 MYLK ACTA2
26 12.19 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
27 12.13 TGFBR2 TGFBR1 SMAD4 SMAD3
28 12.03 SMAD4 SMAD3 IL6 COL3A1
29 12.01 TGFB3 TGFB2 IL6 COL3A1
30 12.01 TGFB3 TGFB2 IL6 BGN ACTA2
31
Show member pathways
12 TGFBR2 TGFBR1 SMAD4 SMAD3 IL6
32
Show member pathways
12 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
33 11.98 TGFBR1 TGFB3 TGFB2 REN NOTCH1
34 11.95 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
35
Show member pathways
11.9 TGFBR2 TGFBR1 SMAD4 SMAD3 LOX
36 11.88 TGFB3 TGFB2 IL6
37 11.85 TGFBR2 TGFBR1 SMAD4 SMAD3
38 11.84 TGFBR2 TGFBR1 SMAD4 SMAD3
39
Show member pathways
11.83 TGFBR2 TGFBR1 SMAD4 SMAD3
40 11.77 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
41
Show member pathways
11.74 TGFB3 TGFB2 MFAP5 LOX FBN1 ELN
42 11.73 TGFBR2 TGFBR1 SMAD4 SMAD3
43 11.73 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
44
Show member pathways
11.71 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
45 11.67 TGFBR1 SMAD4 SMAD3 IL6
46 11.66 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
47
Show member pathways
11.66 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
48 11.65 TGFB3 TGFB2 BGN
49 11.59 TGFB3 TGFB2 IL6
50 11.58 TGFBR2 TGFBR1 TGFB2

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 region GO:0005576 10 TGFB3 TGFB2 REN NOTCH1 MFAP5 LOX
2 extracellular space GO:0005615 9.85 TGFB3 TGFB2 REN MIR199A1 LOX IL6
3 receptor complex GO:0043235 9.67 TGFBR2 TGFBR1 SMAD3 NOTCH1
4 extracellular matrix GO:0031012 9.43 MFAP5 LOX FBN1 ELN COL3A1 BGN
5 microfibril GO:0001527 9.4 MFAP5 FBN1
6 SMAD protein complex GO:0071141 9.32 SMAD4 SMAD3
7 collagen-containing extracellular matrix GO:0062023 9.17 TGFB3 TGFB2 MFAP5 FBN1 ELN COL3A1

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.16 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1 IL6
2 positive regulation of cell proliferation GO:0008284 10.15 TGFBR2 TGFBR1 TGFB3 TGFB2 NOTCH1 IL6
3 positive regulation of gene expression GO:0010628 10.13 TGFBR1 SMAD3 NOTCH1 IL6 ACTA2
4 positive regulation of cell migration GO:0030335 10.04 TGFBR1 SMAD3 NOTCH1 MYLK
5 negative regulation of cell proliferation GO:0008285 10.04 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
6 regulation of cell proliferation GO:0042127 10.03 TGFBR2 TGFB3 TGFB2 SMAD4 NOTCH1
7 response to hypoxia GO:0001666 9.99 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
8 cell cycle arrest GO:0007050 9.98 TGFBR1 TGFB2 SMAD3 NOTCH1
9 male gonad development GO:0008584 9.95 TGFBR1 TGFB2 SMAD4 REN
10 skeletal system development GO:0001501 9.95 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
11 extracellular matrix organization GO:0030198 9.95 MFAP5 LOX FBN1 ELN COL3A1 BGN
12 in utero embryonic development GO:0001701 9.93 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1
13 lung development GO:0030324 9.92 TGFBR2 NOTCH1 LOX
14 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.92 TGFBR2 TGFBR1 TGFB3 SMAD3
15 BMP signaling pathway GO:0030509 9.91 TGFB3 TGFB2 SMAD4
16 kidney development GO:0001822 9.91 TGFBR1 TGFB2 SMAD4 REN FBN1
17 heart development GO:0007507 9.91 TGFBR2 TGFBR1 TGFB2 NOTCH1 LOX FBN1
18 heart looping GO:0001947 9.89 TGFBR2 SMAD3 NOTCH1
19 blood vessel development GO:0001568 9.89 TGFBR2 LOX COL3A1
20 cellular response to transforming growth factor beta stimulus GO:0071560 9.89 TGFBR1 SMAD3 FBN1
21 outflow tract morphogenesis GO:0003151 9.88 TGFBR2 NOTCH1 ELN
22 positive regulation of stress fiber assembly GO:0051496 9.88 TGFBR1 TGFB3 SMAD3
23 SMAD protein signal transduction GO:0060395 9.88 TGFB3 TGFB2 SMAD4 SMAD3
24 epithelial to mesenchymal transition GO:0001837 9.87 TGFBR1 TGFB2 NOTCH1
25 gastrulation GO:0007369 9.85 TGFBR2 SMAD4 SMAD3
26 embryonic cranial skeleton morphogenesis GO:0048701 9.84 TGFBR2 TGFBR1 SMAD3
27 digestive tract development GO:0048565 9.84 TGFBR2 TGFB3 COL3A1
28 collagen fibril organization GO:0030199 9.84 TGFBR1 TGFB2 LOX COL3A1
29 endoderm development GO:0007492 9.83 SMAD4 SMAD3 NOTCH1
30 neuron fate commitment GO:0048663 9.83 TGFBR1 SMAD4 NOTCH1
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 9.81 SMAD4 SMAD3 LOX
34 cell-cell junction organization GO:0045216 9.81 TGFB3 TGFB2 SMAD3
35 activin receptor signaling pathway GO:0032924 9.79 TGFBR2 TGFBR1 SMAD3
36 ventricular trabecula myocardium morphogenesis GO:0003222 9.78 TGFBR1 TGFB2 NOTCH1
37 positive regulation of SMAD protein signal transduction GO:0060391 9.77 TGFBR1 TGFB3 SMAD4
38 pathway-restricted SMAD protein phosphorylation GO:0060389 9.75 TGFBR2 TGFBR1 TGFB2
39 cardiac muscle cell proliferation GO:0060038 9.74 TGFB2 NOTCH1
40 supramolecular fiber organization GO:0097435 9.74 MFAP5 COL3A1
41 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.74 SMAD4 NOTCH1
42 cardiac epithelial to mesenchymal transition GO:0060317 9.74 TGFBR1 TGFB2 NOTCH1
43 response to cholesterol GO:0070723 9.73 TGFBR2 TGFBR1
44 elastic fiber assembly GO:0048251 9.73 MYH11 LOX
45 somatic stem cell division GO:0048103 9.73 TGFB2 NOTCH1
46 embryonic eye morphogenesis GO:0048048 9.73 MFAP5 FBN1
47 endothelial cell activation GO:0042118 9.73 TGFBR1 SMAD4
48 atrioventricular valve morphogenesis GO:0003181 9.73 TGFBR2 TGFB2 NOTCH1
49 salivary gland morphogenesis GO:0007435 9.72 TGFB3 TGFB2
50 cardiac left ventricle morphogenesis GO:0003214 9.72 TGFBR2 NOTCH1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.58 SMAD4 SMAD3 LOX
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.51 TGFBR2 TGFBR1
3 transforming growth factor beta binding GO:0050431 9.5 TGFBR2 TGFBR1 TGFB3
4 I-SMAD binding GO:0070411 9.49 TGFBR1 SMAD4
5 type I transforming growth factor beta receptor binding GO:0034713 9.48 TGFBR2 TGFB3
6 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN1 ELN
7 SMAD binding GO:0046332 9.46 TGFBR2 TGFBR1 SMAD3 COL3A1
8 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
9 transforming growth factor beta receptor binding GO:0005160 9.43 TGFB3 TGFB2 SMAD3
10 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFB3 TGFB2
11 extracellular matrix structural constituent GO:0005201 9.35 MFAP5 FBN1 ELN COL3A1 BGN
12 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFBR1 TGFB3 TGFB2

Sources for Aortic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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