MCID: ART101
MIFTS: 65

Aortic Valve Disease 2

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

Aliases & Classifications for Aortic Valve Disease 2

MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 53 71 28 13 69
Aortic Valve Stenosis 53 12 72 49 71 28 41 14 69
Bicuspid Aortic Valve 53 72 71 36 28 51
Aortic Stenosis 12 49 51
Congenital Aortic Valve Stenosis 12 55
Rheumatic Aortic Stenosis 12 69
Aovd2 53 71
Rheumatic Aortic Valve Stenosis 12
Valvular Aortic Stenosis 49
As 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
aortic valve disease 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Valve Disease 2

NIH Rare Diseases : 49 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. Last updated: 7/5/2013

MalaCards based summary : Aortic Valve Disease 2, also known as aortic valve stenosis, is related to familial bicuspid aortic valve and pulmonary hypertension, and has symptoms including angina pectoris, sudden cardiac death and left ventricular hypertrophy. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Notch signaling pathway and TGF-beta signaling pathway. The drugs Captopril and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

Wikipedia : 72 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 162)
# Related Disease Score Top Affiliating Genes
1 familial bicuspid aortic valve 34.6 NOTCH1 SMAD6
2 pulmonary hypertension 31.2 ACE BMP2 NPPA NPPB VWF
3 myocardial infarction 31.1 ACE AGT NPPA NPPB VWF
4 aortic valve disease 1 31.0 ACE BMP2 DSP ELN FBN1 NKX2-6
5 ventricular septal defect 30.5 NKX2-6 NPPB TBX5
6 supravalvular aortic stenosis 12.7
7 subvalvular aortic stenosis 12.5
8 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.3
9 aortic valves stenosis of the child 12.2
10 smoking as a quantitative trait locus 3 12.1
11 smoking as a quantitative trait locus 1 11.9
12 smoking as a quantitative trait locus 2 11.9
13 stature as a quantitative trait 11.9
14 angelman syndrome 11.7
15 williams-beuren syndrome 11.5
16 spondyloarthropathy 1 11.5
17 antisynthetase syndrome 11.3
18 hepatocellular carcinoma 11.2
19 osteochondrosis 11.2
20 lip cancer 11.2
21 scheie syndrome 11.2
22 acute gonococcal salpingitis 10.9
23 proteus syndrome 10.8
24 alzheimer disease 10.8
25 porphyria, acute hepatic 10.8
26 asperger syndrome 10.8
27 multiple system atrophy 1 10.8
28 lymphoma 10.7
29 breast cancer 10.7
30 prostate cancer 10.7
31 multiple sclerosis 10.7
32 eclampsia 10.7
33 pick disease of brain 10.7
34 schizophrenia 10.7
35 mercury poisoning 10.7
36 encephalopathy 10.7
37 essential tremor 10.7
38 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.7 ELN FBN1
39 late-onset focal dermal elastosis 10.7 ELN FBN1
40 epilepsy 10.7
41 pneumothorax, primary spontaneous 10.7
42 dementia 10.7
43 familial abdominal aortic aneurysm 10.7 ELN FBN1
44 asthma 10.7
45 lung cancer 10.7
46 colorectal cancer 10.7
47 melanoma 10.7
48 fatty liver disease 10.7
49 stiff-person syndrome 10.7
50 ovarian cancer 10.7

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

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
bicuspid aortic valve
stenosis of aortic valve

Cardiovascular Vascular:
calcification of the aorta
coarctation of the aorta


Clinical features from OMIM:

614823

Human phenotypes related to Aortic Valve Disease 2:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angina pectoris 55 31 occasional (7.5%) Occasional (29-5%) HP:0001681
2 sudden cardiac death 55 31 very rare (1%) Very rare (<4-1%) HP:0001645
3 left ventricular hypertrophy 55 31 frequent (33%) Frequent (79-30%) HP:0001712
4 endocarditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100584
5 reduced ejection fraction 55 31 occasional (7.5%) Occasional (29-5%) HP:0012664
6 aortic valve stenosis 55 31 obligate (100%) Obligate (100%) HP:0001650
7 aortic valve calcification 55 31 frequent (33%) Frequent (79-30%) HP:0004380
8 exertional dyspnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002875
9 endocardial fibroelastosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001706
10 heart murmur 55 31 hallmark (90%) Very frequent (99-80%) HP:0030148
11 dysplastic aortic valve 55 31 frequent (33%) Frequent (79-30%) HP:0005176
12 aortic valve atresia 55 31 frequent (33%) Frequent (79-30%) HP:0010883
13 abnormal t-wave 55 31 frequent (33%) Frequent (79-30%) HP:0005135
14 increased qrs voltage 55 31 frequent (33%) Frequent (79-30%) HP:0025075
15 abnormal pulse pressure 55 31 occasional (7.5%) Occasional (29-5%) HP:0030850
16 thoracic aortic aneurysm 55 31 very rare (1%) Very rare (<4-1%) HP:0012727
17 bicuspid aortic valve 31 HP:0001647
18 coarctation of aorta 31 HP:0001680
19 calcification of the aorta 31 HP:0004963
20 left ventricular failure 55 Occasional (29-5%)

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 NOTCH1 DSP NPPA FBN1 SHOX2 ACE
2 homeostasis/metabolism MP:0005376 10.2 BMP2 NOTCH1 NPPA FBN1 SHOX2 ACE
3 growth/size/body region MP:0005378 10.18 BMP2 NOTCH1 DSP FBN1 ACE HGD
4 mortality/aging MP:0010768 10.1 BMP2 NOTCH1 DSP FBN1 ACE AGT
5 craniofacial MP:0005382 10.01 BMP2 NOTCH1 DSP FBN1 SHOX2 TNFRSF11B
6 muscle MP:0005369 9.85 NOTCH1 DSP NPPA FBN1 AGT MYH7
7 renal/urinary system MP:0005367 9.5 NOTCH1 NPPA FBN1 ACE HGD AGT
8 skeleton MP:0005390 9.28 BMP2 NOTCH1 FBN1 HGD 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 284)
# 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
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
4
Desflurane Approved Phase 4 57041-67-5 42113
5
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
8
Fluvastatin Approved Phase 4,Phase 2 93957-54-1 1548972
9
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
10
Remifentanil Approved Phase 4 132875-61-7 60815
11
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
12
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
13
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 46507594 772
14
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
15
Acetylcysteine Approved, Investigational Phase 4,Phase 1 616-91-1 12035
16
Adenosine Approved, Investigational Phase 4,Phase 1,Phase 2 58-61-7 60961
17
Regadenoson Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 313348-27-5 219024
18
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
19
Acenocoumarol Approved, Investigational Phase 4 152-72-7 54676537 9052
20
Clopidogrel Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 120202-66-6, 113665-84-2 60606
21
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
22
Rivaroxaban Approved Phase 4,Phase 3 366789-02-8
23
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
24
Warfarin Approved Phase 4 81-81-2 54678486 6691
25
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
26
Methylphenidate Approved, Investigational Phase 4 20748-11-2, 113-45-1 4158
27
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
28
Dobutamine Approved Phase 4 34368-04-2 36811
29
Bisoprolol Approved Phase 4 66722-44-9 2405
30 Edoxaban Approved Phase 4 480449-70-5
31
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 77-92-9 311
32
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
33 Simendan Investigational Phase 4,Not Applicable 131741-08-7
34 Angiotensin-Converting Enzyme Inhibitors Phase 4
35 Antihypertensive Agents Phase 4,Phase 3,Phase 2
36 HIV Protease Inhibitors Phase 4,Phase 3
37
protease inhibitors Phase 4,Phase 3
38 Phosphodiesterase 5 Inhibitors Phase 4
39 Phosphodiesterase Inhibitors Phase 4,Not Applicable
40 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
41 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 2
42 Anesthetics Phase 4,Phase 2,Not Applicable
43 Anesthetics, General Phase 4,Not Applicable
44 Anesthetics, Inhalation Phase 4
45 Anesthetics, Intravenous Phase 4
46 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
47 Hypnotics and Sedatives Phase 4
48 U 78517F Phase 4
49 Anticoagulants Phase 4,Phase 3,Not Applicable
50 Antithrombin III Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 633)

# 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 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Unknown status NCT01275339 Phase 4 Tadalafil;Placebo
3 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression and Severity Unknown status NCT02060071 Phase 4
4 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
5 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
6 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4 Desflurane
7 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
8 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
9 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4 Sildenafil
10 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
11 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
12 REST Study: Left Ventricular Regression European Study Completed NCT00256165 Phase 4
13 EDWARDS INTUITY Valve System CADENCE-MIS Study Completed NCT02672553 Phase 4
14 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
15 Glutamate and Diastolic Function in Patients Undergoing Aortic Valve Repair Completed NCT01144039 Phase 4 LG-group;HG-group;Placebo-group
16 Rosuvastatin Affecting Aortic Valve Endothelium Completed NCT00114491 Phase 4 Rosuvastatin
17 Remifentanil/Sufentanil for CABG+/-AVR Evaluated by Recovery, Cognitive Function, Haemodynamics and Biochemical Markers. Completed NCT02053818 Phase 4 Remifentanil;Sufentanil
18 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
19 Protamine Sulfate During Transcatheter Aortic Valve Implantation Recruiting NCT02974660 Phase 4 Protamine sulfate;0.9% NaCl
20 SecOnd-generation seLf-expandable Versus Balloon-expandable Valves and gEneral Versus Local Anesthesia in TAVI Recruiting NCT02737150 Phase 4
21 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
22 TAVI Protocol - Paravertebral Block Study Recruiting NCT01404975 Phase 4
23 Dual Antiplatelet Therapy Versus Oral Anticoagulation for a Short Time to Prevent Cerebral Embolism After TAVI Recruiting NCT01642134 Phase 4 aspirin+clopidogrel (Duoplavin)
24 The Effect of the Forced Diuresis With Matched Hydration in Reducing Acute Kidney Injury During TAVI Recruiting NCT01866800 Phase 4 Conventional Treatment
25 Rivaroxaban or Aspirin for Biological Aortic Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
26 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Recruiting NCT03015818 Phase 4
27 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 Recruiting NCT02482844 Phase 4
28 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
29 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
30 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
31 Platelet Reactivity After TAVI: A Multicenter Pilot Study Active, not recruiting 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
32 The PARTNER TRIAL - Post Approval Study Part II Active, not recruiting NCT02184442 Phase 4
33 Anticoagulant Versus Dual Antiplatelet Therapy for Preventing Leaflet Thrombosis and Cerebral Embolization After Transcatheter Aortic Valve Replacement Not yet recruiting NCT03284827 Phase 4 NOAC;DAPT
34 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
35 Randomized Study to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in Patients With Aortic Stenosis. Suspended NCT00404287 Phase 4 Fluvastatin
36 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
37 The Effect of Lipitor on Aortic Stenosis Terminated NCT00590135 Phase 4 atorvastatin (Lipitor)
38 Effect of Bisoprolol on Progression of Aortic Stenosis Terminated NCT01579058 Phase 4 bisoprolol;placebo
39 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 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 Erythropoietin + Iron Therapy for Anemic Patients Undergoing Aortic Valve Replacement Unknown status NCT02390102 Phase 3 Erythropoietin;Placebo
47 Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications Unknown status NCT01000233 Phase 2, Phase 3
48 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, Phase 3 Perhexiline;Placebo marked PEXSIG
49 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
50 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Completed NCT01202721 Phase 3 Atenolol;Telmisartan

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 28 SMAD6
2 Bicuspid Aortic Valve 28
3 Aortic Valve Stenosis 28

Anatomical Context for Aortic Valve Disease 2

MalaCards organs/tissues related to Aortic Valve Disease 2:

38
Heart

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 570)
# Title Authors Year
1
Beneficial Effects of High-Density Lipoproteins on Acquired von Willebrand Syndrome in Aortic Valve Stenosis. ( 29443370 )
2018
2
Impact of peripheral artery disease on early and late outcomes of transcatheter aortic valve implantation in patients with severe aortic valve stenosis. ( 29425561 )
2018
3
Acquired von Willebrand Syndrome Due to Aortic Valve Stenosis in a Case with Antiphospholipid Antibody. ( 29321442 )
2018
4
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
5
Aortic Valve Stenosis in Alkaptonuria. ( 28528068 )
2017
6
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
7
Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ( 29092008 )
2017
8
The integrated value of sST2 and global longitudinal strain in the early stratification of patients with severe aortic valve stenosis: a translational imaging approach. ( 28664478 )
2017
9
The Relationship between Galectin-3 and Different Patterns of Ventricular Geometry Remodelling in Aortic Valve Stenosis. ( 26525848 )
2016
10
Role for Galectin-3 in Calcific Aortic Valve Stenosis. ( 27815266 )
2016
11
PCSK9 R46L Loss-of-Function Mutation Reduces Lipoprotein(a), LDL Cholesterol, and Risk of Aortic Valve Stenosis. ( 27218270 )
2016
12
Micro-RNA-21 (biomarker) and global longitudinal strain (functional marker) in detection of myocardial fibrotic burden in severe aortic valve stenosis: a pilot study. ( 27567668 )
2016
13
Lactobacillus paracasei endocarditis in a consumer of probiotics with advanced and severe bicuspid aortic valve stenosis complicated with diffuse left ventricular mid-layer fibrosis. ( 27657466 )
2016
14
Aortic valve stenosis: what do people know? A heart valve disease awareness survey of over 8,800 people aged 60 or over. ( 27283409 )
2016
15
Mitral and aortic valve stenosis in alkaptonuria. ( 26823449 )
2016
16
Determinants and prognostic value of Galectin-3 in patients with aortic valve stenosis. ( 26896466 )
2016
17
Severe Aortic Valve Stenosis: Sustained Cure of Acquired von Willebrand Syndrome After Surgical Valve Replacement. ( 27481874 )
2016
18
Blood coagulation and fibrinolysis in aortic valve stenosis: links with inflammation and calcification. ( 25809537 )
2015
19
Single-Stage Repair of Thoracic Aortic Aneurysm through a Median Sternotomy in a Patient with Pseudocoarctation of the Aorta and Severe Aortic Valve Stenosis. ( 26131037 )
2015
20
Oxidized Phospholipids, Lipoprotein(a), and Progression of Calcific Aortic Valve Stenosis. ( 26361154 )
2015
21
Transcatheter Aortic Valve Implantation (TAVI) in Patients With Bicuspid Aortic Valve Stenosis - Systematic Review and Meta-Analysis. ( 25818374 )
2015
22
Long-Term Results of Balloon Valvuloplasty as Primary Treatment for Congenital Aortic Valve Stenosis: a 20-Year Review. ( 25788411 )
2015
23
Systemic vascular load in calcific degenerative aortic valve stenosis: insight from percutaneous valve replacement. ( 25660919 )
2015
24
Benfluorex: An active toxin for the development of aortic valve stenosis. ( 25544201 )
2015
25
HIF-1I+ and VEGF: Immunohistochemical Profile and Possible Function in Human Aortic Valve Stenosis. ( 25569379 )
2015
26
Elevated Lipoprotein(a) Does Not Cause Low-Grade Inflammation Despite Causal Association With Aortic Valve Stenosis and Myocardial Infarction: A Study of 100,578 Individuals from the General Population. ( 25938632 )
2015
27
Exercise-induced ventricular re-polarisation changes in moderate congenital aortic valve stenosis. ( 25704167 )
2015
28
Myocardial efficiency is an important determinant of functional improvement after aortic valve replacement in aortic valve stenosis patients: a combined PET and CMR study. ( 25680386 )
2015
29
Quadricuspid aortic valve stenosis treated with a novel, self-expanding, repositionable transcatheter aortic valve prosthesis. ( 25662057 )
2015
30
Hypertension, aortic valve stenosis, and the aorta: more lessons from TAVR. ( 25660920 )
2015
31
Transcatheter Versus Surgical Aortic Valve Replacement in Patients with Severe Aortic Valve Stenosis: One-year Results from the All-comers Nordic Aortic Valve Intervention (NOTION) Randomized Clinical Trial. ( 25787196 )
2015
32
High sensitivity C reactive protein as a prognostic marker in patients with mild to moderate aortic valve stenosis during lipid-lowering treatment: an SEAS substudy. ( 25685360 )
2015
33
Carbonic anhydrase XII in valve interstitial cells promotes the regression of calcific aortic valve stenosis. ( 25771146 )
2015
34
Aortopathy in patients with bicuspid aortic valve stenosis: role of aortic root functional parametersa8 . ( 25855595 )
2015
35
Impact of chronic obstructive pulmonary disease on survival and symptoms of severe aortic valve stenosis. ( 25658150 )
2015
36
FTO Is Associated with Aortic Valve Stenosis in a Gender Specific Manner of Heterozygote Advantage: A Population-Based Case-Control Study. ( 26431034 )
2015
37
Tardive coronary obstruction by a native leaflet after transcatheter aortic valve replacement in a patient with heavily calcified aortic valve stenosis. ( 25147045 )
2014
38
Aortic Valve Replacement Reduces Valvuloarterial Impedance but Does Not Affect Systemic Arterial Compliance in Elderly Men with Degenerative Calcific Trileaflet Aortic Valve Stenosis. ( 25267695 )
2014
39
Prosthetic aortic valve stenosis secondary to non-optimal surgical suture. ( 25149211 )
2014
40
Paradoxical low flow aortic valve stenosis: incidence, evaluation, and clinical significance. ( 24343152 )
2014
41
Balloon Dilation and Surgical Valvotomy Comparison in Non-critical Congenital Aortic Valve Stenosis. ( 25388630 )
2014
42
'Paradoxical' low-flow, low-gradient severe aortic valve stenosis: an entity with limited improvement following transcatheter aortic valve implantation. ( 25803970 )
2014
43
Aortic Valve Stenosis Planimetry by Means of Three-Dimensional Transesophageal Echocardiography in the Real Clinical Setting: Feasibility, Reliability and Systematic Deviations. ( 25041359 )
2014
44
Quantitative Analysis of Aortic Valve Stenosis and Aortic Root Dimensions by Three-Dimensional Echocardiography in Patients Scheduled for Transcutaneous Aortic Valve Implantation. ( 25506408 )
2014
45
Left apical aneurysm in a patient with severe aortic valve stenosis. ( 25798350 )
2014
46
Correlation between systolic transvalvular flow and proximal aortic wall changes in bicuspid aortic valve stenosis. ( 24431167 )
2014
47
Left ventricular diastolic function is associated with symptom status in severe aortic valve stenosis. ( 24173271 )
2014
48
Aortic Valve Replacement for Severe Aortic Valve Stenosis in the Nonagenarian Patient. ( 25200726 )
2014
49
Aortic-valve stenosis--from patients at risk to severe valve obstruction. ( 25140960 )
2014
50
Urgent transcatheter aortic valve replacement for severe aortic valve stenosis with acute decompensated heart failure: report of a case. ( 25358893 )
2014

Variations for Aortic Valve Disease 2

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

71
# 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 all 12)
# 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.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh37 Chromosome 12, 114823327: 114823327
3 SMAD6 NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe) single nucleotide variant Pathogenic rs387907283 GRCh37 Chromosome 15, 67073833: 67073833
4 SMAD6 NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu) single nucleotide variant Pathogenic rs387907284 GRCh37 Chromosome 15, 67073626: 67073626
5 TBX5 NM_000192.3(TBX5): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs863223788 GRCh38 Chromosome 12, 114366312: 114366312
6 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh38 Chromosome 12, 114366189: 114366189
7 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
8 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh37 Chromosome 12, 114836432: 114836432
9 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic GRCh38 Chromosome 12, 114399597: 114399597
10 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh38 Chromosome 12, 114398640: 114398640
11 TBX5 NC_000012.11: g.(?_114793317)_(114841723_?)del deletion Pathogenic GRCh37 Chromosome 12, 114793317: 114841723
12 TBX5 NM_000192.3(TBX5): c.629_632dup (p.Ile212Valfs) duplication Pathogenic GRCh38 Chromosome 12, 114394772: 114394775

Expression for Aortic Valve Disease 2

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

Pathways for Aortic Valve Disease 2

Pathways related to Aortic Valve Disease 2 according to KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330
2 TGF-beta signaling pathway hsa04350

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 9.61 ACE AGT BMP2 FBN1 NPPA NPPB
2 extracellular matrix GO:0031012 9.55 DSP ELN FBN1 NPPA VWF
3 extracellular region GO:0005576 9.4 ACE AGT BMP2 ELN FBN1 NOTCH1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.82 ACE AGT FBN1
2 osteoblast differentiation GO:0001649 9.82 BMP2 SHOX2 SPP1
3 extracellular matrix organization GO:0030198 9.8 ELN FBN1 SPP1 TNFRSF11B VWF
4 skeletal system development GO:0001501 9.78 BMP2 FBN1 SHOX2 TNFRSF11B
5 extracellular matrix disassembly GO:0022617 9.74 ELN FBN1 SPP1
6 embryonic limb morphogenesis GO:0030326 9.7 NOTCH1 SHOX2 TBX5
7 cell-substrate adhesion GO:0031589 9.65 SMAD6 VWF
8 positive regulation of bone resorption GO:0045780 9.64 SPP1 TNFSF11
9 endocardial cushion morphogenesis GO:0003203 9.63 BMP2 NOTCH1
10 cell growth involved in cardiac muscle cell development GO:0061049 9.63 AGT NPPA
11 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH7 NPPA
12 regulation of blood vessel diameter GO:0097746 9.62 ACE NPPB
13 regulation of blood pressure GO:0008217 9.62 ACE AGT NPPA NPPB
14 positive regulation of renal sodium excretion GO:0035815 9.61 AGT NPPB
15 cardiac epithelial to mesenchymal transition GO:0060317 9.61 BMP2 NOTCH1
16 angiotensin maturation GO:0002003 9.6 ACE AGT
17 cardiac muscle tissue morphogenesis GO:0055008 9.59 BMP2 NOTCH1
18 endocardial cushion development GO:0003197 9.58 NOTCH1 TBX5
19 positive regulation of astrocyte differentiation GO:0048711 9.58 BMP2 NOTCH1
20 pulmonary valve morphogenesis GO:0003184 9.56 NOTCH1 SMAD6
21 receptor guanylyl cyclase signaling pathway GO:0007168 9.55 NPPA NPPB
22 cardiac atrium morphogenesis GO:0003209 9.54 NOTCH1 SHOX2
23 regulation of blood vessel size GO:0050880 9.54 AGT NPPA NPPB
24 heart valve development GO:0003170 9.51 SHOX2 SMAD6
25 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.49 ACE AGT
26 regulation of extracellular matrix assembly GO:1901201 9.46 AGT NOTCH1
27 regulation of renal output by angiotensin GO:0002019 9.43 ACE AGT
28 atrioventricular valve morphogenesis GO:0003181 9.43 BMP2 NOTCH1 TBX5
29 heart development GO:0007507 9.43 BMP2 FBN1 NKX2-6 NOTCH1 SHOX2 TBX5
30 pericardium development GO:0060039 9.33 BMP2 NKX2-6 TBX5
31 regulation of receptor activity GO:0010469 9.23 AGT BMP2 FBN1 NPPA NPPB SPP1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 BMP2 SPP1 TNFRSF11B TNFSF11
2 hormone receptor binding GO:0051427 8.96 NPPA NPPB
3 hormone activity GO:0005179 8.92 AGT FBN1 NPPA NPPB

Sources for Aortic Valve Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....