AOVD2
MCID: ART101
MIFTS: 63

Aortic Valve Disease 2 (AOVD2)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Aortic Valve Disease 2

MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 58 12 76 30 13 6 74
Aortic Valve Stenosis 58 12 77 54 76 45 15 74
Aortic Stenosis 12 54 56 15 41 17
Rheumatic Aortic Stenosis 12 74
Bicuspid Aortic Valve 58 76
Aovd2 58 76
Rheumatic Aortic Valve Stenosis 12
Aortic Valve Disease, Type 2 41
Valvular Aortic Stenosis 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients reported (last curated september 2012)


HPO:

33
aortic valve disease 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080334 DOID:1712
OMIM 58 614823
MeSH 45 D001024
NCIt 51 C50462
SNOMED-CT 69 60573004
SNOMED-CT via HPO 70 263681008 72352009 7305005

Summaries for Aortic Valve Disease 2

NIH Rare Diseases : 54 Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. The condition can eventually lead to heart failure. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. Treatment may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition.

MalaCards based summary : Aortic Valve Disease 2, also known as aortic valve stenosis, is related to aortic valve insufficiency and ventricular septal defect. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Transcription_Role of VDR in regulation of genes involved in osteoporosis. The drugs Captopril and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Disease Ontology : 12 An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.

UniProtKB/Swiss-Prot : 76 Aortic valve disease 2: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

Wikipedia : 77 Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the... more...

Description from OMIM: 614823

Related Diseases for Aortic Valve Disease 2

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Congenital Aortic Valve Insufficiency

Diseases related to Aortic Valve Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 374)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 31.7 ACE ELN NPPB
2 ventricular septal defect 31.4 MYH7 NPPB TBX5
3 congestive heart failure 30.9 ACE MYH7 NPPA NPPB
4 hypoplastic left heart syndrome 30.8 NPPA NPPB SMAD6
5 pulmonary hypertension 30.8 ACE BMP2 NPPA NPPB VWF
6 acute myocardial infarction 30.8 ACE NPPA NPPB VWF
7 aortic valve disease 1 30.7 ACE BMP2 ELN GLS LPA NPPB
8 coronary stenosis 30.7 ACE NPPB VWF
9 muscle hypertrophy 30.6 AGT MYH7 NPPA
10 pulmonary edema 30.6 ACE NPPA NPPB
11 hypertensive heart disease 30.5 ACE AGT NPPB
12 myocardial infarction 30.5 ACE AGT LPA NPPA NPPB VWF
13 heart disease 30.5 ACE ELN MYH7 NPPA NPPB TBX5
14 atrial standstill 1 30.5 ACE MYH7 NPPB
15 coronary artery anomaly 30.4 ACE LPA NPPA NPPB
16 periodontitis, chronic 30.4 TNFRSF11B TNFSF11
17 pulmonary hypertension, primary, 1 30.3 BMP2 NPPA NPPB
18 mitral valve insufficiency 30.3 ACE GLS NPPA NPPB PDLIM1 TBX5
19 cardiac arrest 30.3 ACE MYH7 NPPB
20 atrial fibrillation 30.3 ACE AGT MYL4 NPPA NPPB TBX5
21 aortic atherosclerosis 30.3 ACE LPA SPP1
22 carotid stenosis 30.2 ACE SPP1 TNFRSF11B
23 arteries, anomalies of 30.2 ACE AGT LPA NPPB VWF
24 vascular disease 30.2 ACE ELN LPA TNFRSF11B VWF
25 peripheral vascular disease 30.1 ACE LPA VWF
26 wolff-parkinson-white syndrome 30.1 BMP2 MYH7 NPPB
27 arteriosclerosis 30.1 ACE ELN LPA SPP1
28 mitral valve disease 30.1 ACE AGT NPPA
29 coronary heart disease 1 30.0 ACE LPA NPPB
30 hypertension, essential 30.0 ACE AGT LPA NPPA NPPB VWF
31 dilated cardiomyopathy 30.0 ACE AGT MYH7 NPPA NPPB SPP1
32 uremia 30.0 SPP1 TNFRSF11B VWF
33 diastolic heart failure 30.0 ACE AGT NPPA NPPB
34 central sleep apnea 29.9 NPPA NPPB
35 chronic kidney failure 29.7 ACE AGT LPA NPPA NPPB SPP1
36 kidney disease 29.7 ACE AGT LPA NPPA NPPB SPP1
37 heart valve disease 29.5 ACE CNMD ELN NPPA NPPB PDLIM1
38 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.7
39 congenital aortic valve stenosis 12.5
40 aortic valves stenosis of the child 12.4
41 williams-beuren syndrome 12.1
42 periventricular nodular heterotopia 1 11.4
43 loeys-dietz syndrome 4 11.4
44 congenital heart defects, multiple types, 2 11.4
45 kleefstra syndrome 11.4
46 supravalvular aortic stenosis 11.3
47 subvalvular aortic stenosis 11.3
48 ritscher-schinzel syndrome 1 11.3
49 kashani strom utley syndrome 11.2
50 heterotaxy, visceral, 1, x-linked 11.1

Comorbidity relations with Aortic Valve Disease 2 via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Intermediate Coronary Syndrome
Ischemic Heart Disease Rheumatic Heart Disease

Graphical network of the top 20 diseases related to Aortic Valve Disease 2:



Diseases related to Aortic Valve Disease 2

Symptoms & Phenotypes for Aortic Valve Disease 2

Human phenotypes related to Aortic Valve Disease 2:

33
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 33 HP:0001647
2 coarctation of aorta 33 HP:0001680
3 calcification of the aorta 33 HP:0004963

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
bicuspid aortic valve
stenosis of aortic valve

Cardiovascular Vascular:
calcification of the aorta
coarctation of the aorta

Clinical features from OMIM:

614823

GenomeRNAi Phenotypes related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACE AGT BMP2 CNMD ELN GLS

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ACE AGT BMP2 MYH7 NPPA SMAD6
2 homeostasis/metabolism MP:0005376 9.77 ACE AGT BMP2 CNMD HGD MYL4
3 muscle MP:0005369 9.17 AGT MYH7 NPPA SMAD6 SPP1 TBX5

Drugs & Therapeutics for Aortic Valve Disease 2

Drugs for Aortic Valve Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 323)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Captopril Approved Phase 4 62571-86-2 44093
2
Trandolapril Approved Phase 4 87679-37-6 5484727
3
Desflurane Approved Phase 4 57041-67-5 42113
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
6
Clopidogrel Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 120202-66-6, 113665-84-2 60606
7
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
8
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
9
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
10
Atorvastatin Approved Phase 4,Phase 3 134523-00-5 60823
11
Sodium Citrate Approved, Investigational Phase 4,Not Applicable 68-04-2
12
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
13
Acetylcysteine Approved, Investigational Phase 4,Phase 1 616-91-1 12035
14
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
15
Remifentanil Approved Phase 4 132875-61-7 60815
16
Ranolazine Approved, Investigational Phase 4,Phase 2 95635-55-5, 142387-99-3 56959
17
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 46507594 772
18
Rivaroxaban Approved Phase 4,Phase 3 366789-02-8
19
Losartan Approved Phase 4,Phase 2 114798-26-4 3961
20
Regadenoson Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 313348-27-5 219024
21
Adenosine Approved, Investigational Phase 4,Phase 1,Phase 2 58-61-7 60961
22
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
23
Edoxaban Approved Phase 4 480449-70-5
24
Acenocoumarol Approved, Investigational Phase 4 152-72-7 54676537 9052
25
Warfarin Approved Phase 4,Not Applicable 81-81-2 54678486 6691
26
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
27
Chlorthalidone Approved Phase 4 77-36-1 2732
28
Amlodipine Approved Phase 4 88150-42-9 2162
29
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
30
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
31
Dobutamine Approved Phase 4,Not Applicable 34368-04-2 36811
32
Bisoprolol Approved Phase 4 66722-44-9 2405
33
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
34
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
35
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1 7440-70-2 271
36
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 77-92-9 311
37
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
38 Simendan Investigational Phase 4,Not Applicable 131741-08-7
39
Emodepside Investigational, Vet_approved Phase 4 155030-63-0
40 HIV Protease Inhibitors Phase 4,Phase 3
41
protease inhibitors Phase 4,Phase 3
42 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Early Phase 1
43 Angiotensin-Converting Enzyme Inhibitors Phase 4
44 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
45 Anesthetics, Intravenous Phase 4
46 Anesthetics Phase 4,Phase 2,Not Applicable
47 Anesthetics, Inhalation Phase 4
48 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
49 Hypnotics and Sedatives Phase 4
50 U 78517F Phase 4

Interventional clinical trials:

(show top 50) (show all 719)
# Name Status NCT ID Phase Drugs
1 Acute Haemodynamic Effects of Treatment With Angiotensin Converting Enzyme (ACE)-Inhibitors in Patients With Symptomatic Aortic Stenosis Unknown status NCT00252317 Phase 4 Captopril and Trandolapril;Captopril Test Dose and Trandolapril
2 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression and Severity Unknown status NCT02060071 Phase 4
3 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
4 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
5 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4 Desflurane
6 Frailty and Cognitive Function Assessment of TAVI Patients Unknown status NCT02650388 Phase 4
7 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB)After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Unknown status NCT02482844 Phase 4
8 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
9 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
10 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
11 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
12 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
13 REST Study: Left Ventricular Regression European Study Completed NCT00256165 Phase 4
14 Platelet Reactivity After TAVI: A Multicenter Pilot Study Completed NCT02224066 Phase 4 Ticagrelor 90 mg twice per day during three months following TAVI;Aspirin 100 mg plus Clopidogrel 75 mg daily during three months following TAVI
15 Cerebral Embolic Load in Patients Undergoing Surgical Aortic Valve Replacement: A Comparison of the Conventional With the Minimized Extracorporeal Circulation Technique Using Transcranial Doppler Ultrasound Completed NCT02308566 Phase 4
16 The Effect of the Forced Diuresis With Matched Hydration in Reducing Acute Kidney Injury During TAVI Completed NCT01866800 Phase 4 Conventional Treatment
17 Glutamate and Diastolic Function in Patients Undergoing Aortic Valve Repair Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
18 Remifentanil/Sufentanil for CABG+/-AVR Evaluated by Recovery, Cognitive Function, Haemodynamics and Biochemical Markers. Completed NCT02053818 Phase 4 Remifentanil;Sufentanil
19 Cardiovascular Effects of Chronic Sildenafil in Men With Type 2 Diabetes Completed NCT00692237 Phase 4 Sildenafil;Placebo
20 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
21 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
22 Protamine Sulfate During Transcatheter Aortic Valve Implantation Recruiting NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
23 Anticoagulant Versus Dual Antiplatelet Therapy for Preventing Leaflet Thrombosis and Cerebral Embolization After Transcatheter Aortic Valve Replacement Recruiting NCT03284827 Phase 4 NOAC;DAPT
24 Dual Antiplatelet Therapy Versus Oral Anticoagulation for a Short Time to Prevent Cerebral Embolism After TAVI Recruiting NCT01642134 Phase 4 aspirin+clopidogrel (Duoplavin)
25 Anticoagulation for Aortic Bioprosthesis (ANTIPRO) Recruiting NCT03807921 Phase 4 Warfarin;Aspirin
26 Rivaroxaban or Aspirin for Biological Aortic Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
27 Comparison of Conscious Sedation With Propofol and Dexmedetomidine During Transcatheter Aortic Valve Implantation Recruiting NCT03747432 Phase 4 Propofol;Dexmedetomidine
28 Study to Evaluate the Effect on Improvement of LVH by the Control of BP in Hypertension Patients With AV Disease Recruiting NCT03666351 Phase 4 Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
29 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Recruiting NCT03015818 Phase 4
30 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
31 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
32 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Active, not recruiting NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
33 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
34 Randomized Study to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in Patients With Aortic Stenosis. Suspended NCT00404287 Phase 4 Fluvastatin
35 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
36 The Effect of Lipitor on Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
37 Effect of Bisoprolol on Progression of Aortic Stenosis Terminated NCT01579058 Phase 4 bisoprolol;placebo
38 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4 Tadalafil;Placebo
39 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Terminated NCT01275339 Phase 4 Tadalafil;Placebo
40 Balloon Aortic Valvuloplasty Performed Without Heparin to Decrease Vascular and Bleeding Complications of the Procedure Terminated NCT01823393 Phase 4 Heparin;NaCl
41 Effects of Levosimendan in Patients Eligible for Aortic Valve Replacement With Left Ventricular Hypertrophy Terminated NCT01188369 Phase 4 levosimendan;placebo drug
42 TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
43 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
44 Effects of High Dose Atorvastatin in Patients With Surgical Aortic Stenosis Unknown status NCT00811330 Phase 3 Atorvastatin 80 mg
45 Effect of Angiotensin II Receptor Blockers (ARB) on Left Ventricular Reverse Remodelling After Aortic Valve Replacement in Severe Valvular Aortic Stenosis Unknown status NCT00294775 Phase 3 Candesartan
46 Safety Profile Evaluation of TICagrelor Alone Compared to a Combination of Lysine Acetylsalicylate-Clopidogrel in the Context of Transcatheter Aortic Valve Implantation (TAVI) Unknown status NCT02817789 Phase 3 Ticagrelor alone;Combination lysine acetylsalicylate - clopidogrel
47 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
48 A Trial to Assess the Safety and Efficacy of Prophylactic TicagrelOr With Acetylsalicylic Acid Versus CLopidogrel With Acetylsalicylic Acid in the Development of Cerebrovascular EMbolic Events During TAVI Unknown status NCT02989558 Phase 3 Ticagrelor plus ASA;Clopidogrel plus ASA
49 Dual AntiPlatelet Therapies for Prevention of Periinterventional Embolic Events in TAVI Unknown status NCT03001960 Phase 3 Preloading before TAVI;Postloading after TAVI
50 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, Phase 3 Perhexiline;Placebo marked PEXSIG

Search NIH Clinical Center for Aortic Valve Disease 2

Cochrane evidence based reviews: aortic valve stenosis

Genetic Tests for Aortic Valve Disease 2

Genetic tests related to Aortic Valve Disease 2:

# Genetic test Affiliating Genes
1 Aortic Valve Disease 2 30 SMAD6

Anatomical Context for Aortic Valve Disease 2

MalaCards organs/tissues related to Aortic Valve Disease 2:

42
Heart, Bone, Testes, Kidney, Endothelial, Lung, Brain

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 1005)
# Title Authors Year
1
Congenital Aortic Valve Stenosis: To Dilate or Operate? ( 30871758 )
2019
2
Congenital Aortic Valve Stenosis. ( 31086112 )
2019
3
miRNA-mRNA crosstalk in myocardial ischemia induced by calcified aortic valve stenosis. ( 30651404 )
2019
4
Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia. ( 30528907 )
2019
5
Myocardial adaptation after surgical therapy differs for aortic valve stenosis and hypertrophic obstructive cardiomyopathy. ( 30825136 )
2019
6
Clinical outcomes of the Lotus Valve in patients with bicuspid aortic valve stenosis: An analysis from the RESPOND study. ( 30773838 )
2019
7
Outcomes of transcatheter aortic valve replacement in bicuspid aortic valve stenosis. ( 31019952 )
2019
8
Association between aortic valvular calcification and characteristics of the aortic valve in patients with bicuspid aortic valve stenosis. ( 30080100 )
2019
9
Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study. ( 30099661 )
2019
10
Myocardial protection at aortic valve stenosis (Reply). ( 30928546 )
2019
11
Upregulated Autophagy in Calcific Aortic Valve Stenosis Confers Protection of Valvular Interstitial Cells. ( 30934548 )
2019
12
Circulating Osteogenic Progenitor Cells in Mild, Moderate, and Severe Aortic Valve Stenosis. ( 30947832 )
2019
13
Oral Anticoagulation Therapy and Progression of Calcific Aortic Valve Stenosis. ( 30975306 )
2019
14
1-Year Survival After TAVR of Patients With Low-Flow, Low-Gradient and High-Gradient Aortic Valve Stenosis in Matched Study Populations. ( 31000012 )
2019
15
Treatment Challenges in Patients with Acute Heart Failure and Severe Aortic Valve Stenosis. ( 31011842 )
2019
16
Decompensated Heart Failure in Patients With Aortic Valve Stenosis. ( 31014902 )
2019
17
Celecoxib Is Associated With Dystrophic Calcification and Aortic Valve Stenosis. ( 31061914 )
2019
18
Low systemic arterial compliance is associated with increased cardiovascular morbidity and mortality in aortic valve stenosis. ( 31092548 )
2019
19
Clinical Outcomes in Patients with Severe Aortic Valve Stenosis Treated with a Portico Transcatheter Aortic Valve System. ( 31095721 )
2019
20
Grading Aortic Valve Stenosis With Dimensionless Index During Pre-cardiopulmonary Bypass Transesophageal Echocardiography: A Comparison With Transthoracic Echocardiography. ( 31097337 )
2019
21
Transcatheter aortic valve implantation: a safe and efficient procedure to treat an aortic valve stenosis before lung cancer resection. ( 29492835 )
2019
22
The von Willebrand factor ratio and perioperative bleeding in patients with aortic valve stenosis. ( 29532652 )
2019
23
Anatomic Characterization of the Aortic Root in Patients With Bicuspid and Tricuspid Aortic Valve Stenosis: Does Fusion of Doppler-Echocardiography and Computed Tomography Resolve Discordant Severity Grading? ( 29909115 )
2019
24
Minimally invasive aortic valve replacement through a right anterolateral mini-thoracotomy for the treatment of octogenarians with aortic valve stenosis. ( 30225808 )
2019
25
Accuracy and Trending Ability of the Fourth-Generation FloTrac/EV1000 System in Patients With Severe Aortic Valve Stenosis Before and After Surgical Valve Replacement. ( 30318421 )
2019
26
Activated platelets promote an osteogenic programme and the progression of calcific aortic valve stenosis. ( 30395215 )
2019
27
Dietary patterns, food groups, and incidence of aortic valve stenosis: A prospective cohort study. ( 30416029 )
2019
28
Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosis. ( 30482443 )
2019
29
PALMD as a novel target for calcific aortic valve stenosis. ( 30608251 )
2019
30
Imaging Is the Cornerstone of the Management of Aortic Valve Stenosis. ( 30621995 )
2019
31
Assessment of Unicuspid Aortic Valve Stenosis Using Multimodality Imaging, X-ray Radiography and Raman Analysis. ( 30626768 )
2019
32
Potential Causality and Emerging Medical Therapies for Lipoprotein(a) and Its Associated Oxidized Phospholipids in Calcific Aortic Valve Stenosis. ( 30702993 )
2019
33
Comparison of transcatheter aortic valve implantation with other approaches to treat aortic valve stenosis: a systematic review and meta-analysis. ( 30722786 )
2019
34
Myocardial protection at aortic valve stenosis. ( 30763557 )
2019
35
Graded murine wire-induced aortic valve stenosis model mimics human functional and morphological disease phenotype. ( 30767058 )
2019
36
Serum copeptin might improve risk stratification and management of aortic valve stenosis: a review of pathophysiological insights and practical implications. ( 30803406 )
2019
37
Elective Mechanical Circulatory Support in the Percutaneous Treatment of Patients With Combined Complex Coronary Artery Disease and Severe Aortic Valve Stenosis. ( 30819975 )
2019
38
Remodeling classification system considering left ventricular volume in patients with aortic valve stenosis: Association with adverse cardiovascular outcomes. ( 30834592 )
2019
39
Risk factors for residual mitral regurgitation after aortic valve replacement in patients with severe aortic valve stenosis and moderate mitral regurgitation. ( 30877646 )
2019
40
Molecular and clinical implications of natriuretic peptides in aortic valve stenosis. ( 30878394 )
2019
41
Electrocardiographic criteria for left ventricular hypertrophy in aortic valve stenosis: Correlation with echocardiographic parameters. ( 30896064 )
2019
42
Impact of several proinflammatory and cell degradation factors in patients with aortic valve stenosis. ( 30906430 )
2019
43
Biomarkers in Aortic Valve Stenosis and their Clinical Significance in Transcatheter Aortic Valve Implantation. ( 28748765 )
2019
44
Acquired von Willebrand Syndrome due to Aortic Valve Stenosis in a Case with Antiphospholipid Antibody. ( 29321442 )
2018
45
Beneficial Effects of High-Density Lipoproteins on Acquired von Willebrand Syndrome in Aortic Valve Stenosis. ( 29443370 )
2018
46
Impella support following emergency percutaneous balloon aortic valvuloplasty in patients with severe aortic valve stenosis and cardiogenic shock. ( 29571667 )
2018
47
Hybrid Balloon Valvuloplasty for the Treatment of Severe Congenital Aortic Valve Stenosis in Infants. ( 28964424 )
2018
48
Left Atrial Size and Function in Patients With Congenital Aortic Valve Stenosis. ( 30180956 )
2018
49
Unusual management of parturient patient with severe bicuspid aortic valve stenosis and congestive heart failure. ( 29942337 )
2018
50
Mitral Kissing Vegetation and Acquired Aortic Valve Stenosis Secondary to Infectious Endocarditis in a Goat with Suppurative Mastitis. ( 29996509 )
2018

Variations for Aortic Valve Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 2:

76
# Symbol AA change Variation ID SNP ID
1 SMAD6 p.Pro415Leu VAR_068075 rs387907284
2 SMAD6 p.Cys484Phe VAR_068076 rs387907283

ClinVar genetic disease variations for Aortic Valve Disease 2:

6 (show top 50) (show all 95)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX5 NM_000192.3(TBX5): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894378 GRCh37 Chromosome 12, 114823326: 114823326
2 TBX5 NM_000192.3(TBX5): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894378 GRCh38 Chromosome 12, 114385521: 114385521
3 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh37 Chromosome 12, 114823327: 114823327
4 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh38 Chromosome 12, 114385522: 114385522
5 SMAD6 NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe) single nucleotide variant Pathogenic rs387907283 GRCh37 Chromosome 15, 67073833: 67073833
6 SMAD6 NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe) single nucleotide variant Pathogenic rs387907283 GRCh38 Chromosome 15, 66781495: 66781495
7 SMAD6 NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu) single nucleotide variant Pathogenic rs387907284 GRCh37 Chromosome 15, 67073626: 67073626
8 SMAD6 NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu) single nucleotide variant Pathogenic rs387907284 GRCh38 Chromosome 15, 66781288: 66781288
9 TBX5 NM_000192.3(TBX5): c.787G> A (p.Val263Met) single nucleotide variant Benign/Likely benign rs147405081 GRCh37 Chromosome 12, 114804165: 114804165
10 TBX5 NM_000192.3(TBX5): c.787G> A (p.Val263Met) single nucleotide variant Benign/Likely benign rs147405081 GRCh38 Chromosome 12, 114366360: 114366360
11 TBX5 NM_000192.3(TBX5): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs863223788 GRCh38 Chromosome 12, 114366312: 114366312
12 TBX5 NM_000192.3(TBX5): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs863223788 GRCh37 Chromosome 12, 114804117: 114804117
13 TBX5 NM_000192.3(TBX5): c.331G> T (p.Asp111Tyr) single nucleotide variant Benign/Likely benign rs77357563 GRCh37 Chromosome 12, 114837349: 114837349
14 TBX5 NM_000192.3(TBX5): c.331G> T (p.Asp111Tyr) single nucleotide variant Benign/Likely benign rs77357563 GRCh38 Chromosome 12, 114399544: 114399544
15 TBX5 NM_000192.3(TBX5): c.309C> T (p.Leu103=) single nucleotide variant Benign rs28730763 GRCh38 Chromosome 12, 114399566: 114399566
16 TBX5 NM_000192.3(TBX5): c.309C> T (p.Leu103=) single nucleotide variant Benign rs28730763 GRCh37 Chromosome 12, 114837371: 114837371
17 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh38 Chromosome 12, 114366189: 114366189
18 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh37 Chromosome 12, 114803994: 114803994
19 SMAD6 NM_005585.4(SMAD6): c.106G> A (p.Asp36Asn) single nucleotide variant Uncertain significance rs773308777 GRCh38 Chromosome 15, 66703364: 66703364
20 SMAD6 NM_005585.4(SMAD6): c.106G> A (p.Asp36Asn) single nucleotide variant Uncertain significance rs773308777 GRCh37 Chromosome 15, 66995702: 66995702
21 SMAD6 NM_005585.4(SMAD6): c.482C> T (p.Ala161Val) single nucleotide variant Uncertain significance rs748622672 GRCh38 Chromosome 15, 66703740: 66703740
22 SMAD6 NM_005585.4(SMAD6): c.482C> T (p.Ala161Val) single nucleotide variant Uncertain significance rs748622672 GRCh37 Chromosome 15, 66996078: 66996078
23 SMAD6 NM_005585.4(SMAD6): c.594C> T (p.Arg198=) single nucleotide variant Likely benign rs565225133 GRCh37 Chromosome 15, 66996190: 66996190
24 SMAD6 NM_005585.4(SMAD6): c.594C> T (p.Arg198=) single nucleotide variant Likely benign rs565225133 GRCh38 Chromosome 15, 66703852: 66703852
25 TBX5 NM_000192.3(TBX5): c.1281C> T (p.Ser427=) single nucleotide variant Benign rs6489957 GRCh37 Chromosome 12, 114793613: 114793613
26 TBX5 NM_000192.3(TBX5): c.1281C> T (p.Ser427=) single nucleotide variant Benign rs6489957 GRCh38 Chromosome 12, 114355808: 114355808
27 TBX5 NM_000192.3(TBX5): c.587C> A (p.Ser196Ter) single nucleotide variant Pathogenic rs886041247 GRCh37 Chromosome 12, 114832622: 114832622
28 TBX5 NM_000192.3(TBX5): c.587C> A (p.Ser196Ter) single nucleotide variant Pathogenic rs886041247 GRCh38 Chromosome 12, 114394817: 114394817
29 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh37 Chromosome 12, 114836432: 114836432
30 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh38 Chromosome 12, 114398627: 114398627
31 TBX5 NM_000192.3(TBX5): c.1084C> G (p.Gln362Glu) single nucleotide variant Uncertain significance rs765204502 GRCh37 Chromosome 12, 114793810: 114793810
32 TBX5 NM_000192.3(TBX5): c.1084C> G (p.Gln362Glu) single nucleotide variant Uncertain significance rs765204502 GRCh38 Chromosome 12, 114356005: 114356005
33 TBX5 NM_000192.3(TBX5): c.1162G> A (p.Glu388Lys) single nucleotide variant Uncertain significance rs139371720 GRCh38 Chromosome 12, 114355927: 114355927
34 TBX5 NM_000192.3(TBX5): c.1162G> A (p.Glu388Lys) single nucleotide variant Uncertain significance rs139371720 GRCh37 Chromosome 12, 114793732: 114793732
35 TBX5 NM_000192.3(TBX5): c.755G> T (p.Ser252Ile) single nucleotide variant Uncertain significance rs863223776 GRCh38 Chromosome 12, 114385476: 114385476
36 TBX5 NM_000192.3(TBX5): c.755G> T (p.Ser252Ile) single nucleotide variant Uncertain significance rs863223776 GRCh37 Chromosome 12, 114823281: 114823281
37 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic rs1555226420 GRCh38 Chromosome 12, 114399597: 114399597
38 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic rs1555226420 GRCh37 Chromosome 12, 114837402: 114837402
39 TBX5 NM_000192.3(TBX5): c.1545C> T (p.Ser515=) single nucleotide variant Benign rs186780790 GRCh37 Chromosome 12, 114793349: 114793349
40 TBX5 NM_000192.3(TBX5): c.1545C> T (p.Ser515=) single nucleotide variant Benign rs186780790 GRCh38 Chromosome 12, 114355544: 114355544
41 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh37 Chromosome 12, 114836445: 114836445
42 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh38 Chromosome 12, 114398640: 114398640
43 SMAD6 NM_005585.4(SMAD6): c.35G> A (p.Arg12Gln) single nucleotide variant Uncertain significance rs946785791 GRCh38 Chromosome 15, 66703293: 66703293
44 SMAD6 NM_005585.4(SMAD6): c.35G> A (p.Arg12Gln) single nucleotide variant Uncertain significance rs946785791 GRCh37 Chromosome 15, 66995631: 66995631
45 SMAD6 NM_005585.4(SMAD6): c.92_100delGTGGCGGCG (p.Gly31_Gly33del) deletion Uncertain significance rs750149627 GRCh38 Chromosome 15, 66703350: 66703358
46 SMAD6 NM_005585.4(SMAD6): c.92_100delGTGGCGGCG (p.Gly31_Gly33del) deletion Uncertain significance rs750149627 GRCh37 Chromosome 15, 66995688: 66995696
47 SMAD6 NM_005585.4(SMAD6): c.465_471dupCGGGCGG (p.Ser158Argfs) duplication Uncertain significance rs958818801 GRCh38 Chromosome 15, 66703723: 66703729
48 SMAD6 NM_005585.4(SMAD6): c.465_471dupCGGGCGG (p.Ser158Argfs) duplication Uncertain significance rs958818801 GRCh37 Chromosome 15, 66996061: 66996067
49 SMAD6 NM_005585.4(SMAD6): c.1260C> T (p.Pro420=) single nucleotide variant Likely benign rs371930288 GRCh38 Chromosome 15, 66781304: 66781304
50 SMAD6 NM_005585.4(SMAD6): c.1260C> T (p.Pro420=) single nucleotide variant Likely benign rs371930288 GRCh37 Chromosome 15, 67073642: 67073642

Expression for Aortic Valve Disease 2

Search GEO for disease gene expression data for Aortic Valve Disease 2.

Pathways for Aortic Valve Disease 2

GO Terms for Aortic Valve Disease 2

Cellular components related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 ACE AGT BMP2 NPPA NPPB SPP1
2 extracellular region GO:0005576 9.4 ACE AGT BMP2 CNMD ELN LPA

Biological processes related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.78 AGT NPPA NPPB
2 animal organ morphogenesis GO:0009887 9.77 BMP2 ELN TNFSF11
3 negative regulation of angiogenesis GO:0016525 9.76 AGT CNMD NPPB
4 extracellular matrix organization GO:0030198 9.71 ELN SPP1 TNFRSF11B VWF
5 aortic valve morphogenesis GO:0003180 9.61 ELN SMAD6
6 regulation of the force of heart contraction GO:0002026 9.6 MYH7 MYL4
7 cell-substrate adhesion GO:0031589 9.58 SMAD6 VWF
8 positive regulation of bone resorption GO:0045780 9.57 SPP1 TNFSF11
9 cell growth involved in cardiac muscle cell development GO:0061049 9.56 AGT NPPA
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.55 MYH7 NPPA
11 low-density lipoprotein particle remodeling GO:0034374 9.54 AGT LPA
12 positive regulation of renal sodium excretion GO:0035815 9.52 AGT NPPB
13 regulation of blood vessel diameter GO:0097746 9.51 ACE NPPB
14 atrioventricular valve morphogenesis GO:0003181 9.49 BMP2 TBX5
15 cGMP biosynthetic process GO:0006182 9.48 NPPA NPPB
16 receptor guanylyl cyclase signaling pathway GO:0007168 9.46 NPPA NPPB
17 pericardium development GO:0060039 9.43 BMP2 TBX5
18 proteoglycan metabolic process GO:0006029 9.37 BMP2 CNMD
19 regulation of blood vessel size GO:0050880 9.33 AGT NPPA NPPB
20 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.32 ACE AGT
21 regulation of renal output by angiotensin GO:0002019 9.26 ACE AGT
22 regulation of blood pressure GO:0008217 9.26 ACE AGT NPPA NPPB
23 regulation of signaling receptor activity GO:0010469 9.17 AGT BMP2 NPPA NPPB SPP1 TNFRSF11B

Molecular functions related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 AGT NPPA NPPB
2 cytokine activity GO:0005125 9.26 BMP2 SPP1 TNFRSF11B TNFSF11
3 hormone receptor binding GO:0051427 8.62 NPPA NPPB

Sources for Aortic Valve Disease 2

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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