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AOVD1
MCID: ART115
MIFTS: 61

Aortic Valve Disease 1 (AOVD1)

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Aortic Valve Disease 1

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MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 57 75 44 73
Aortic Valve Disease 57 12 75 13 55 15
Aortic Valve Disorder 29 6 73
Abnormality of the Aortic Valve 29 6
Bicuspid Aortic Valve 57 75
Aovd1 57 75
Bav 57 75
Aortic Valve, Calcification of 57
Calcification of Aortic Valve 75
Aortic Valve Disease, Type 1 40
Bicuspid Aortic Valve; Bav 57
Aortic Valve Calcification 73
Aortic Stenosis, Calcific 57
Calcific Aortic Stenosis 75
Aortic Valve, Bicuspid 57
Aortic Valve Disease 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 109730
Disease Ontology 12 DOID:62
ICD9CM 35 395 424.1
NCIt 50 C78650
SNOMED-CT 68 194988001 8722008
ICD10 33 I39.1
SNOMED-CT via HPO 69 263681008 72352009 60573004
Sources

Summaries for Aortic Valve Disease 1

About this section
OMIM : 57 Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. (109730)

MalaCards based summary : Aortic Valve Disease 1, also known as aortic valve disease, is related to aortic valve insufficiency and aortic coarctation. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and bone, and related phenotypes are bicuspid aortic valve and aortic valve stenosis

UniProtKB/Swiss-Prot : 75 Aortic valve disease 1: 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.

Sources

Related Diseases for Aortic Valve Disease 1

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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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 32.5 ACE ELN FBN1 NKX2-6 NOTCH1 NPPB
2 aortic coarctation 31.1 ACE FBN1 NOTCH1
3 pulmonary embolism 30.5 CRP NPPB TNNI3
4 aortic valve disease 2 30.4 ACE BMP2 CRP ELN FBN1 GLS
5 cardiogenic shock 30.3 CRP NPPB
6 aortic aneurysm 29.8 ELN FBN1 NOTCH1
7 congestive heart failure 29.7 ACE NPPB REN
8 familial bicuspid aortic valve 12.4
9 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.3
10 pseudoxanthoma elasticum-like papillary dermal elastolysis 11.0 ELN FBN1
11 late-onset focal dermal elastosis 11.0 ELN FBN1
12 plica syndrome 11.0 ELN VWF
13 hepatoportal sclerosis 11.0 ACE ELN
14 familial abdominal aortic aneurysm 11.0 ELN FBN1
15 scheie syndrome 11.0
16 hyporeninemic hypoaldosteronism 11.0 ACE REN
17 chronic angina 10.9 NPPB REN
18 renal artery obstruction 10.9 ACE REN
19 tricuspid valve stenosis 10.9 FBN1 NKX2-6 NOTCH1
20 tympanic membrane disease 10.9 NOTCH1 SPP1
21 tricuspid valve disease 10.9 FBN1 NKX2-6 NPPB
22 hypertensive retinopathy 10.9 ACE REN VWF
23 angina pectoris 10.9 ACE CRP VWF
24 pyomyositis 10.8 CRP NOTCH1
25 generalized atherosclerosis 10.8 ACE CRP
26 chronic actinic dermatitis 10.8 ELN FBN1
27 ischemic heart disease 10.8 ACE CRP NPPB
28 collagen disease 10.8 ELN FBN1 VWF
29 systolic heart failure 10.8 ACE CRP NPPB
30 renal hypertension 10.8 ACE NPPB REN
31 intermittent claudication 10.8 ACE CRP VWF
32 bone resorption disease 10.8 BMP2 RUNX2 SPP1
33 heart conduction disease 10.8 ACE CRP NPPB
34 marek disease 10.8 ACE H19
35 oligohydramnios 10.7 ACE NPPB REN
36 hypertensive encephalopathy 10.7 ACE REN
37 syndrome of inappropriate antidiuretic hormone 10.7 ACE NPPB POMC
38 familial vesicoureteral reflux 10.7 ACE TGFB1
39 acute adrenal insufficiency 10.7 POMC REN
40 scleredema adultorum 10.7 FBN1 POMC
41 interstitial nephritis 10.7 ACE CRP REN
42 carotid stenosis 10.7 ACE CRP SPP1
43 intermediate coronary syndrome 10.7 ACE CRP TNNI3
44 limb ischemia 10.7 ACE TNNI3 VWF
45 pericardial effusion 10.7 CRP NPPB REN
46 hypoaldosteronism 10.7 ACE POMC REN
47 peripheral vascular disease 10.7 ACE CRP VWF
48 chronic thromboembolic pulmonary hypertension 10.7 CRP NPPB
49 sialolithiasis 10.7 NOTCH1 SPP1 TGFB1
50 polycystic kidney disease 1 with or without polycystic liver disease 10.7 ACE FBN1 REN

Comorbidity relations with Aortic Valve Disease 1 via Phenotypic Disease Network (PDN): (show top 50) (show all 72)


Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Acute Myocardial Infarction Aortic Aneurysm
Aortic Atherosclerosis Aortic Valve Disease 2
Aortic Valve Insufficiency Atrioventricular Block
Basilar Artery Insufficiency Benign Essential Hypertension
Bronchitis Cardiac Arrest
Cardiogenic Shock Cerebral Atherosclerosis
Cerebrovascular Disease Chronic Intestinal Vascular Insufficiency
Chronic Kidney Failure Chronic Myocardial Ischemia
Congenital Aortic Valve Insufficiency Decubitus Ulcer
Deficiency Anemia Dental Caries
Disseminated Intravascular Coagulation Dressler's Syndrome
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation Esophagitis
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Generalized Atherosclerosis Gout
Heart Disease Hemopericardium
Hypertension, Essential Hypertrophic Cardiomyopathy
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Hypothyroidism
Idiopathic Interstitial Pneumonia Intermediate Coronary Syndrome
Intracranial Embolism Intracranial Thrombosis
Iron Deficiency Anemia Ischemic Heart Disease
Kidney Disease Left Bundle Branch Hemiblock
Malignant Essential Hypertension Marfan Syndrome
Mitral Valve Disease Mitral Valve Stenosis

Graphical network of the top 20 diseases related to Aortic Valve Disease 1:



Diseases related to Aortic Valve Disease 1
Sources

Symptoms & Phenotypes for Aortic Valve Disease 1

About this section

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
bicuspid aortic valve

Misc:
male preponderance
systolic ejection click


Clinical features from OMIM:

109730

Human phenotypes related to Aortic Valve Disease 1:

32
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 32 HP:0001647
2 aortic valve stenosis 32 HP:0001650

GenomeRNAi Phenotypes related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 SOS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 TGFB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.77 TGFB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.77 SOS1 TGFB1 CRP NOTCH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.77 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.77 SOS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.77 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.77 TGFB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.77 TGFB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.77 CRP NOTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.77 SOS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 CRP NOTCH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.77 TGFB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.77 TGFB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.77 TGFB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.77 NOTCH1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 NOTCH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.77 TGFB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.77 CRP
20 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.77 TGFB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.77 NOTCH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.77 CRP
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 NOTCH1

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 CRP FBN1 POMC ACE HCK BMP2
2 growth/size/body region MP:0005378 10.21 NOTCH1 FBN1 ACE HCK NKX2-6 BMP2
3 homeostasis/metabolism MP:0005376 10.21 CRP NOTCH1 FBN1 POMC ACE HCK
4 hematopoietic system MP:0005397 10.18 NOTCH1 FBN1 POMC ACE HCK BMP2
5 immune system MP:0005387 10.13 NOTCH1 CRP FBN1 POMC ACE HCK
6 mortality/aging MP:0010768 10.13 FBN1 POMC GLS ACE HCK BMP2
7 craniofacial MP:0005382 10 NOTCH1 FBN1 BMP2 TGFB1 RUNX2 SOS1
8 muscle MP:0005369 9.76 NOTCH1 FBN1 TGFB1 RUNX2 TNNI3 SOS1
9 renal/urinary system MP:0005367 9.5 NOTCH1 FBN1 ACE TGFB1 POMC SPP1
10 respiratory system MP:0005388 9.28 NOTCH1 FBN1 GLS HCK NKX2-6 TNNI3
Sources

Drugs & Therapeutics for Aortic Valve Disease 1

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Drugs for Aortic Valve Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Not Applicable 50-78-2 2244
2
Clopidogrel Approved Phase 4,Not Applicable 120202-66-6, 113665-84-2 60606
3
Ticlopidine Approved Phase 4,Not Applicable 55142-85-3 5472
4
Cefazolin Approved Phase 4 25953-19-9 656510 33255
5
Vancomycin Approved Phase 4 1404-90-6 441141 14969
6
Warfarin Approved Phase 4,Not Applicable 81-81-2 6691 54678486
7
Ticagrelor Approved Phase 4 274693-27-5 9871419
8
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
9
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
10
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
11
Racepinephrine Approved Phase 4 329-65-7 838
12 Pharmaceutical Solutions Phase 4,Phase 3,Not Applicable
13 Analgesics Phase 4,Not Applicable
14 Analgesics, Non-Narcotic Phase 4,Not Applicable
15 Anti-Inflammatory Agents Phase 4,Not Applicable
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
17 Antipyretics Phase 4,Not Applicable
18 Antirheumatic Agents Phase 4,Not Applicable
19 Cyclooxygenase Inhibitors Phase 4,Not Applicable
20 Cytochrome P-450 Enzyme Inhibitors Phase 4,Not Applicable
21 Fibrinolytic Agents Phase 4,Not Applicable
22 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
23 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
24 Platelet Aggregation Inhibitors Phase 4,Not Applicable
25 Purinergic P2 Receptor Antagonists Phase 4,Not Applicable
26 Purinergic P2Y Receptor Antagonists Phase 4,Not Applicable
27 Anti-Bacterial Agents Phase 4
28 Anti-Infective Agents Phase 4
29 Anesthetics Phase 4
30 Central Nervous System Depressants Phase 4
31 Anesthetics, Local Phase 4
32 Carticaine Phase 4
33 Epinephryl borate Phase 4
34
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
35
Atenolol Approved Phase 3 29122-68-7 2249
36
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
37 Adrenergic Agents Phase 3
38 Adrenergic Antagonists Phase 3
39 Adrenergic beta-1 Receptor Antagonists Phase 3
40 Adrenergic beta-Antagonists Phase 3
41 Angiotensin II Type 1 Receptor Blockers Phase 3
42 Angiotensin Receptor Antagonists Phase 3
43 Angiotensinogen Phase 3
44 Anti-Arrhythmia Agents Phase 3
45 Antihypertensive Agents Phase 3
46 Autonomic Agents Phase 3
47 Sympatholytics Phase 3
48 Cardioplegic Solutions Phase 3
49
Rivaroxaban Approved Phase 2 366789-02-8
50
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 EDWARDS INTUITY Valve System CADENCE-MIS Study Completed NCT02672553 Phase 4
2 Aspirin Versus Aspirin + ClopidogRel Following Transcatheter Aortic Valve Implantation: the ARTE Trial Completed NCT01559298 Phase 4 Aspirin (80 mg/d) + clopidogrel (75 mg/d);Aspirin
3 Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients Completed NCT01619982 Phase 4 Cefazolin 25 mg/kg body weight and Vancomycin hydrochloride;Cefazolin 30 mg/kg body weight
4 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4 Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
5 Preventing contrAst Induced Nephropathy After TranscathEter Aortic Valve Replacement Recruiting NCT03121053 Phase 4 sodium bicarbonate;hypotone saline
6 Aspirin Versus Aspirin+Clopidogrel as Antithrombotic Treatment Following TAVI Active, not recruiting NCT02640794 Phase 4 Clopidogrel;Aspirin
7 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Terminated NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
8 Clinical Evaluation of a Modular Extracorporeal Circulation Circuit Unknown status NCT02000544 Phase 3
9 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Completed NCT01202721 Phase 3 Atenolol;Telmisartan
10 Phase III Study Comparing Two Methods of Cardioplegia in Aortic Valve Surgery Custodiol-N Versus Custodiol Recruiting NCT02098772 Phase 3 Custodiol-N;Custodiol
11 Safety and Effectiveness Study of Perceval S Valve for Extended CE Mark Active, not recruiting NCT01368666 Phase 2, Phase 3
12 Neuromonitoring in Patients During Aortic Valve Replacement Enrolling by invitation NCT02697786 Phase 3
13 Decalcification of the Aortic Valve by Vitamin K2 (Menaquinone-7) Recruiting NCT03305536 Phase 2
14 Bicuspid Aortic Valve Stenosis and the Effect of vItamin K2 on Calciummetabolism on 18F-NaF PET/MRI Recruiting NCT02917525 Phase 2
15 The Safety and Effectiveness of Transcatheter Aortic Valve Raplacemet in Intermediate Risk Patients With Bicuspid Aortic Stenosis Not yet recruiting NCT03163329 Phase 2
16 Comparison of Antithrombotic Treatments After Aortic Valve Replacement. Rivaroxaban: A New Antithrombotic Treatment for Patients With Mechanical Prosthetic Aortic Heart Valve. Terminated NCT02128841 Phase 2 Rivaroxaban
17 Transapical Implantation of Ventor Embracerâ„¢ Valve in Patients With Severe Aortic Valve Disease Unknown status NCT00677638 Not Applicable
18 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
19 Risk Factors Associated With Calcification of the Aortic Valve Unknown status NCT00375336
20 Cardiac Vascular Reconstruction DynaCT for TAVI Procedures Unknown status NCT02031796 Not Applicable
21 Use of Transvenous Pacing Wire During Minimally Invasive Port Access Aortic Valve Surgery Unknown status NCT01631188 Not Applicable
22 Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation) Unknown status NCT00708409
23 Comparison of Priming Constituents in Patients Undergoing CPB Assisted Cardiac Surgery: HES 130/0.4 or Albumin 5% Unknown status NCT01849757 Not Applicable
24 Quantitative Measurement of Myocardial Perfusion by Cardiac CT in Patients Unknown status NCT02361996
25 PERCEVAL Pivotal Trial Unknown status NCT00860730 Not Applicable
26 Optimizing Health Outcomes in Patients With Symptomatic Aortic Valve Disease Completed NCT02266251
27 The Impact of 24/7-phone Support on Readmission After Aortic Valve Replacement, a Randomized Clinical Trial Completed NCT02522663 Not Applicable
28 Implementation of Non-size Markers Derived From 4D Flow MRI of Patients With Aortic Disease. Completed NCT02467062 Not Applicable
29 Semi-automatic assessMent of Aortic Roots by Three-dimensional transoEsophageal echocaRdiography (SMARTER) Completed NCT02724709
30 Observatory of Anticoagulation After Bioprosthetic Aortic Valve Replacement Completed NCT01293188
31 Twenty-five-year Experience With the Medtronic-Hall Valve Prosthesis Completed NCT00486928
32 Transcranial Doppler (TCD) Assessment During Early Anti-thrombotic Therapy After Bioprosthetic Aortic Valve Replacement Completed NCT00465218
33 EDWARDS INTUITY Elite Valve System Completed NCT02907463
34 EDWARDS INTUITY Valve System CADENCE Study Completed NCT02688153 Not Applicable
35 Evaluation of Endothelial Dysfunction During Aortic Valvular Replacement by Bioprosthesis With and Without Extracorporeal Circulation Completed NCT03135496
36 Intermittent Cold Blood vs Crystalloid Cardioplegia in Aortic Valve Surgery Completed NCT00257777 Not Applicable
37 Incidence and Severity of Silent and Apparent Cerebral Embolism After Conventional and Minimal-invasive Transfemoral Aortic Valve Replacement Completed NCT00883285
38 2D Strain of Right Ventricle in Peroperative of Cardiac Surgery Completed NCT03298932
39 Transcatheter Aortic Valve Intervention-Live Transmission Completed NCT01353287
40 CO2 Versus Lund De-airing Technique in Heart Surgery Completed NCT00934596 Not Applicable carbon-dioxide insufflation
41 EDWARDS INTUITY Valve System FOUNDATION Study Completed NCT02338154
42 REpositionable Percutaneous Replacement of Stenotic Aortic Valve Through Implantation of Lotusâ„¢ Valve SystEm Completed NCT01383720 Not Applicable
43 Progel Vascular Sealant Completed NCT01959503 Not Applicable
44 Left Atrial Cryoablation Enhanced by Ganglionated Plexi Ablation in the Treatment of Atrial Fibrillation Completed NCT03239262 Not Applicable
45 First in Man Study of the JenaValve TAVI Plus System Transfemoral Completed NCT02818959 Not Applicable
46 Cardiac Output Pulmonary Arterial Catheter Compared to FloWaveâ„¢ 1000 Completed NCT00665301
47 The Association Between Dopamine Agonists and Cardiac Valvulopathy, Fibrosis and Other Cardiopulmonary Events Completed NCT01052948
48 International Bicuspid Aortic Valve Consortium (BAVCon) Recruiting NCT01980797
49 Identification of Genetic Mechanisms of Bicuspid Aortic Valve Disease Recruiting NCT01026571
50 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease 1

Sources

Genetic Tests for Aortic Valve Disease 1

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Genetic tests related to Aortic Valve Disease 1:

# Genetic test Affiliating Genes
1 Aortic Valve Disorder 29 NOTCH1
2 Abnormality of the Aortic Valve 29
Sources

Anatomical Context for Aortic Valve Disease 1

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MalaCards organs/tissues related to Aortic Valve Disease 1:

41
Heart, Endothelial, Bone, Whole Blood, Lung
Sources

Publications for Aortic Valve Disease 1

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Articles related to Aortic Valve Disease 1:

(show top 50) (show all 92)
# Title Authors Year
1
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role. ( 29049801 )
2017
2
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease. ( 28657660 )
2017
3
Altered DNA Methylation of Long Noncoding RNA H19 in Calcific Aortic Valve Disease Promotes Mineralization by Silencing NOTCH1. ( 27789555 )
2016
4
Simulation of early calcific aortic valve disease in a 3D platform: A role for myofibroblast differentiation. ( 26996755 )
2016
5
A Modified Epicardial Radiofrequency Ablation for Preoperative Atrial Fibrillation Combined With Isolated Aortic Valve Disease. ( 27211963 )
2016
6
Response to Statin Use and Aneurysm Risk in Patients With Bicuspid Aortic Valve Disease. ( 27217056 )
2016
7
Lipoprotein (a) in calcific aortic valve disease: from genomics to novel drug target for aortic stenosis. ( 26685327 )
2016
8
Lipoprotein(a) Levels Are Associated With Subclinical Calcific Aortic Valve Disease in White and Black Individuals: The Multi-Ethnic Study of Atherosclerosis. ( 26941019 )
2016
9
Age-related changes in aortic 3D blood flow velocities and wall shear stress: Implications for the identification of altered hemodynamics in patients with aortic valve disease. ( 26477691 )
2016
10
Collagen analysis of the ascending aortic dilatation associated with bicuspid aortic valve disease compared with tricuspid aortic valve. ( 27595307 )
2016
11
Markers of Lipid Metabolism Do Not Correlate with the Expression of Aortopathy in Patients with Bicuspid Aortic Valve Disease. ( 28238234 )
2016
12
Bicuspid aortic valve disease and ascending aortic aneurysm: should an aortic root replacement be mandatory?a8 ( 25750009 )
2015
13
Under-recognition of aortic and aortic valve disease and the risk for sudden death in competitive athletes. ( 25720631 )
2015
14
Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease. ( 26553695 )
2015
15
SALTIRE-RAAVE: targeting calcific aortic valve disease LDL-density-radius theory. ( 25797901 )
2015
16
Predictors of Ascending Aortic Dilation in Bicuspid Aortic Valve Disease: A Five-year Prospective Study. ( 25644322 )
2015
17
Adenosine derived from ecto-nucleotidases in calcific aortic valve disease promotes mineralization through A2a adenosine receptor. ( 25644539 )
2015
18
Almanac 2014: aortic valve disease. ( 25828459 )
2015
19
One stage surgical treatment of aortic valve disease and aortic coarctation with aortic bypass grafting through the diaphragm and aortic valve replacement. ( 26555654 )
2015
20
Multimodality and molecular imaging of matrix metalloproteinase activation in calcific aortic valve disease. ( 25908827 )
2015
21
Individualized treatment strategies for patients with aortic valve disease and porcelain aorta. ( 25454923 )
2015
22
Expression and Localization of Granzymes and Perforin in Human Calcific Aortic Valve Disease. ( 26897841 )
2015
23
Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing. ( 25547111 )
2015
24
Cardiac Mechanics in Isolated Bicuspid Aortic Valve Disease With Normal Ejection Fraction: A Study of Various Valvular Lesion Types. ( 26632719 )
2015
25
Elevated expression of lipoprotein-associated phospholipase A2 in calcific aortic valve disease: implications for valve mineralization. ( 24161325 )
2014
26
Basic mechanisms of calcific aortic valve disease. ( 25085215 )
2014
27
Early development of calcific aortic valve disease and left ventricular hypertrophy in a mouse model of combined dyslipidemia and type 2 diabetes mellitus. ( 25231636 )
2014
28
Etiology of bicuspid aortic valve disease: Focus on hemodynamics. ( 25548612 )
2014
29
Aortic valve disease as a first manifestation of Alcaptonuria in surgically treated patient. Case report. ( 25712292 )
2014
30
Prevalence and length of hospital stay in patients with aortic valve disease is lower amongst South Asians. ( 25499331 )
2014
31
Clinical characteristics and outcomes with rivaroxaban vs. warfarin in patients with non-valvular atrial fibrillation but underlying native mitral and aortic valve disease participating in the ROCKET AF trial. ( 25148838 )
2014
32
Tirone David procedure for bicuspid aortic valve disease: impact of root geometry and valve type on mid-term outcomes. ( 24903440 )
2014
33
Molecular biology of calcific aortic valve disease: towards new pharmacological therapies. ( 24857537 )
2014
34
Trileaflet aortic valve commissural fusion: a rare cause of aortic valve disease and systolic ejection sounds. ( 24899220 )
2014
35
Surgical approach to aortic valve disease with concomitant dilation of the proximal aorta: the authors' response. ( 24630232 )
2014
36
Transcatheter aortic valve replacement with a balloon-expandable valve for the treatment of noncalcified bicuspid aortic valve disease. ( 24774600 )
2014
37
Review of molecular and mechanical interactions in the aortic valve and aorta: implications for the shared pathogenesis of aortic valve disease and aortopathy. ( 25410134 )
2014
38
Bicuspid aortic valve disease and lipoprotein(a)--a concept worth exploring? ( 24746505 )
2014
39
A 16-year experience in minimally invasive aortic valve replacement: context for the changing management of aortic valve disease. ( 24758946 )
2014
40
Aortic valve reconstruction with use of pericardial leaflets in adults with bicuspid aortic valve disease: early and midterm outcomes. ( 25593520 )
2014
41
How to approach aortic valve disease in the elderly: a 25-year retrospective study. ( 25629541 )
2014
42
TGF-I^ mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse model of aortic valve disease. ( 25056700 )
2014
43
P2Y2 receptor represses IL-6 expression by valve interstitial cells through Akt: implication for calcific aortic valve disease. ( 24631773 )
2014
44
Treating the patients in the 'grey-zone' with aortic valve disease: a comparison among conventional surgery, sutureless valves and transcatheter aortic valve replacement. ( 25320140 )
2014
45
Calcific aortic valve disease: a consensus summary from the alliance of investigators on calcific aortic valve disease. ( 25189570 )
2014
46
Mixed aortic valve disease in the young: initial observations. ( 24563072 )
2014
47
Early hemodynamic performance of the trifecta bioprosthetic valve in patients with aortic valve disease. ( 24717287 )
2014
48
Does aortic valve disease etiology predict postoperative atrial fibrillation in patients undergoing aortic valve surgery? ( 25495813 )
2014
49
Surgical approach to aortic valve disease with concomitant dilation of the proximal aorta. ( 24630223 )
2014
50
Advances in the treatment of aortic valve disease: is it time for companion diagnostics? ( 25089943 )
2014
Sources

Variations for Aortic Valve Disease 1

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ClinVar genetic disease variations for Aortic Valve Disease 1:

6
(show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NM_017617.4(NOTCH1): c.3319C> T (p.Arg1107Ter) single nucleotide variant Pathogenic rs41309764 GRCh37 Chromosome 9, 139402690: 139402690
2 NOTCH1 NM_017617.4(NOTCH1): c.3319C> T (p.Arg1107Ter) single nucleotide variant Pathogenic rs41309764 GRCh38 Chromosome 9, 136508238: 136508238
3 NOTCH1 NM_017617.4(NOTCH1): c.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh38 Chromosome 9, 136505384: 136505384
4 NOTCH1 NM_017617.4(NOTCH1): c.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh37 Chromosome 9, 139399836: 139399836
5 SOS1 NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr) single nucleotide variant Pathogenic rs397517154 GRCh37 Chromosome 2, 39249914: 39249914
6 SOS1 NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr) single nucleotide variant Pathogenic rs397517154 GRCh38 Chromosome 2, 39022773: 39022773
7 NOTCH1 NM_017617.4(NOTCH1): c.2021T> C (p.Met674Thr) single nucleotide variant Uncertain significance rs587782970 GRCh37 Chromosome 9, 139409148: 139409148
8 NOTCH1 NM_017617.4(NOTCH1): c.2021T> C (p.Met674Thr) single nucleotide variant Uncertain significance rs587782970 GRCh38 Chromosome 9, 136514696: 136514696
9 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Uncertain significance rs150147262 GRCh38 Chromosome 9, 134701193: 134701193
10 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Uncertain significance rs150147262 GRCh37 Chromosome 9, 137593039: 137593039
11 GATA5 NM_080473.4(GATA5): c.1159C> T (p.Arg387Cys) single nucleotide variant Uncertain significance rs145205240 GRCh37 Chromosome 20, 61039927: 61039927
12 GATA5 NM_080473.4(GATA5): c.1159C> T (p.Arg387Cys) single nucleotide variant Uncertain significance rs145205240 GRCh38 Chromosome 20, 62464871: 62464871
13 NOTCH1 NM_017617.4(NOTCH1): c.2380delG (p.Glu794Serfs) deletion Likely pathogenic rs863224901 GRCh37 Chromosome 9, 139407560: 139407560
14 NOTCH1 NM_017617.4(NOTCH1): c.2380delG (p.Glu794Serfs) deletion Likely pathogenic rs863224901 GRCh38 Chromosome 9, 136513108: 136513108
15 NOTCH1 NM_017617.3(NOTCH1): c.3294C> T (p.Ser1098=) single nucleotide variant Benign/Likely benign rs61751546 GRCh37 Chromosome 9, 139402715: 139402715
16 NOTCH1 NM_017617.3(NOTCH1): c.3294C> T (p.Ser1098=) single nucleotide variant Benign/Likely benign rs61751546 GRCh38 Chromosome 9, 136508263: 136508263
17 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh37 Chromosome 9, 139401304: 139401304
18 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh38 Chromosome 9, 136506852: 136506852
19 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh37 Chromosome 9, 139407501: 139407501
20 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh38 Chromosome 9, 136513049: 136513049
21 NOTCH1 NM_017617.4(NOTCH1): c.5014C> T (p.Arg1672Cys) single nucleotide variant Uncertain significance rs745901158 GRCh38 Chromosome 9, 136504677: 136504677
22 NOTCH1 NM_017617.4(NOTCH1): c.5014C> T (p.Arg1672Cys) single nucleotide variant Uncertain significance rs745901158 GRCh37 Chromosome 9, 139399129: 139399129
23 NOTCH1 NM_017617.4(NOTCH1): c.2588-4G> A single nucleotide variant Benign rs3125001 GRCh37 Chromosome 9, 139405261: 139405261
24 NOTCH1 NM_017617.4(NOTCH1): c.2588-4G> A single nucleotide variant Benign rs3125001 GRCh38 Chromosome 9, 136510809: 136510809
25 NOTCH1 NM_017617.4(NOTCH1): c.6555C> T (p.Asp2185=) single nucleotide variant Benign rs2229974 GRCh37 Chromosome 9, 139391636: 139391636
26 NOTCH1 NM_017617.4(NOTCH1): c.6555C> T (p.Asp2185=) single nucleotide variant Benign rs2229974 GRCh38 Chromosome 9, 136497184: 136497184
27 NOTCH1 NM_017617.4(NOTCH1): c.312T> C (p.Asn104=) single nucleotide variant Benign rs4489420 GRCh37 Chromosome 9, 139418260: 139418260
28 NOTCH1 NM_017617.4(NOTCH1): c.312T> C (p.Asn104=) single nucleotide variant Benign rs4489420 GRCh38 Chromosome 9, 136523808: 136523808
29 NOTCH1 NM_017617.4(NOTCH1): c.1555+10A> G single nucleotide variant Benign rs11145767 GRCh37 Chromosome 9, 139411714: 139411714
30 NOTCH1 NM_017617.4(NOTCH1): c.1555+10A> G single nucleotide variant Benign rs11145767 GRCh38 Chromosome 9, 136517262: 136517262
31 NOTCH1 NM_017617.4(NOTCH1): c.1670-9A> G single nucleotide variant Benign rs3124603 GRCh37 Chromosome 9, 139410177: 139410177
32 NOTCH1 NM_017617.4(NOTCH1): c.1670-9A> G single nucleotide variant Benign rs3124603 GRCh38 Chromosome 9, 136515725: 136515725
33 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh38 Chromosome 9, 136497391: 136497391
34 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh37 Chromosome 9, 139391843: 139391843
35 NOTCH1 NM_017617.4(NOTCH1): c.5094C> T (p.Asp1698=) single nucleotide variant Benign rs10521 GRCh38 Chromosome 9, 136503255: 136503255
36 NOTCH1 NM_017617.4(NOTCH1): c.5094C> T (p.Asp1698=) single nucleotide variant Benign rs10521 GRCh37 Chromosome 9, 139397707: 139397707
37 NOTCH1 NM_017617.4(NOTCH1): c.852G> A (p.Pro284=) single nucleotide variant Benign rs2229975 GRCh37 Chromosome 9, 139413908: 139413908
38 NOTCH1 NM_017617.4(NOTCH1): c.852G> A (p.Pro284=) single nucleotide variant Benign rs2229975 GRCh38 Chromosome 9, 136519456: 136519456
39 NOTCH1 NM_017617.4(NOTCH1): c.2265T> C (p.Asn755=) single nucleotide variant Benign rs2229971 GRCh37 Chromosome 9, 139407932: 139407932
40 NOTCH1 NM_017617.4(NOTCH1): c.2265T> C (p.Asn755=) single nucleotide variant Benign rs2229971 GRCh38 Chromosome 9, 136513480: 136513480
41 NOTCH1 NM_017617.4(NOTCH1): c.1441+7C> T single nucleotide variant Benign rs9411208 GRCh37 Chromosome 9, 139412197: 139412197
42 NOTCH1 NM_017617.4(NOTCH1): c.1441+7C> T single nucleotide variant Benign rs9411208 GRCh38 Chromosome 9, 136517745: 136517745
43 NOTCH1 NM_017617.4(NOTCH1): c.3908G> A (p.Arg1303His) single nucleotide variant Uncertain significance rs768775024 GRCh38 Chromosome 9, 136506633: 136506633
44 NOTCH1 NM_017617.4(NOTCH1): c.3908G> A (p.Arg1303His) single nucleotide variant Uncertain significance rs768775024 GRCh37 Chromosome 9, 139401085: 139401085
45 NOTCH1 NM_017617.4(NOTCH1): c.7498C> G (p.His2500Asp) single nucleotide variant Uncertain significance rs763902589 GRCh37 Chromosome 9, 139390693: 139390693
46 NOTCH1 NM_017617.4(NOTCH1): c.7498C> G (p.His2500Asp) single nucleotide variant Uncertain significance rs763902589 GRCh38 Chromosome 9, 136496241: 136496241
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Expression for Aortic Valve Disease 1

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Search GEO for disease gene expression data for Aortic Valve Disease 1.
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Pathways for Aortic Valve Disease 1

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Pathways related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.86 BMP2 ELN FBN1 SOS1 SPP1 TGFB1
2
Degradation of the extracellular matrix 66
Show member pathways
 12.53 BMP2 ELN FBN1 SPP1 TGFB1
3
TGF-beta Signaling Pathways 65
11.69 RUNX2 SOS1 TGFB1
4
IL6-mediated signaling events 1
Show member pathways
 11.63 CRP HCK SOS1
5
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 61
Show member pathways
 11.59 ACE REN TGFB1
6
Endochondral Ossification 1
11.45 RUNX2 SPP1 TGFB1
7
Lung fibrosis 1
11.41 ELN SPP1 TGFB1
8
TGF-beta Receptor Signaling (WikiPathways) 1
11.31 RUNX2 SPP1 TGFB1
9
Cardiac Progenitor Differentiation 1
11.22 NOTCH1 TGFB1 TNNI3
10
Angiogenesis (CST) 4
11.21 NOTCH1 REN TGFB1 VWF
11
FGF signaling pathway 1
11.1 RUNX2 SOS1 SPP1
12
Development_Leptin signaling via JAK/STAT and MAPK cascades 22
Show member pathways
 10.81 CRP POMC SOS1
13
Elastic fibre formation 66
Show member pathways
 10.79 BMP2 ELN FBN1 TGFB1
14
D-Glutamine and D-glutamate metabolism 37
Show member pathways
 10.25 GLS GLS2
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GO Terms for Aortic Valve Disease 1

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Cellular components related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 ACE BMP2 CRP FBN1 NPPB POMC
2 extracellular matrix GO:0031012 9.46 ELN FBN1 TGFB1 VWF
3 extracellular region GO:0005576 9.4 ACE BMP2 CRP ELN FBN1 NOTCH1

Biological processes related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.91 BMP2 CRP HCK SPP1 TGFB1
2 extracellular matrix organization GO:0030198 9.85 ELN FBN1 SPP1 VWF
3 response to organic substance GO:0010033 9.83 REN SPP1 TGFB1
4 BMP signaling pathway GO:0030509 9.83 BMP2 RUNX2 TGFB1
5 extracellular matrix disassembly GO:0022617 9.77 ELN FBN1 SPP1
6 regulation of MAPK cascade GO:0043408 9.7 BMP2 REN TGFB1
7 amyloid-beta metabolic process GO:0050435 9.65 ACE REN
8 regulation of blood vessel diameter GO:0097746 9.64 ACE NPPB
9 cardiac epithelial to mesenchymal transition GO:0060317 9.63 BMP2 NOTCH1
10 heart contraction GO:0060047 9.63 ACE TNNI3
11 positive regulation of epithelial to mesenchymal transition GO:0010718 9.63 BMP2 NOTCH1 TGFB1
12 regulation of signaling receptor activity GO:0010469 9.63 BMP2 FBN1 NPPB POMC SPP1 TGFB1
13 pathway-restricted SMAD protein phosphorylation GO:0060389 9.62 BMP2 TGFB1
14 angiotensin maturation GO:0002003 9.62 ACE REN
15 positive regulation of astrocyte differentiation GO:0048711 9.61 BMP2 NOTCH1
16 atrioventricular valve morphogenesis GO:0003181 9.61 BMP2 NOTCH1
17 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.59 BMP2 RUNX2
18 pericardium development GO:0060039 9.58 BMP2 NKX2-6
19 cellular response to insulin-like growth factor stimulus GO:1990314 9.58 FBN1 TGFB1
20 chondrocyte differentiation GO:0002062 9.58 BMP2 RUNX2 TGFB1
21 heart trabecula morphogenesis GO:0061384 9.57 NOTCH1 SOS1
22 pericardium morphogenesis GO:0003344 9.56 NOTCH1 SOS1
23 cardiac atrium morphogenesis GO:0003209 9.54 NOTCH1 SOS1
24 epithelial to mesenchymal transition GO:0001837 9.54 BMP2 NOTCH1 TGFB1
25 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.49 BMP2 RUNX2
26 glutamate biosynthetic process GO:0006537 9.48 GLS GLS2
27 positive regulation of odontogenesis GO:0042482 9.43 BMP2 TGFB1
28 glutamine catabolic process GO:0006543 9.32 GLS GLS2
29 mononuclear cell proliferation GO:0032943 9.26 ACE TGFB1
30 regulation of blood pressure GO:0008217 9.26 ACE NPPB POMC REN
31 heart development GO:0007507 9.1 BMP2 FBN1 NKX2-6 NOTCH1 TGFB1 TNNI3
32 positive regulation of cell proliferation GO:0008284 10.04 HCK NKX2-6 NOTCH1 RUNX2 TGFB1

Molecular functions related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.35 BMP2 HCK NPPB POMC REN
2 BMP receptor binding GO:0070700 9.16 BMP2 TGFB1
3 glutaminase activity GO:0004359 8.62 GLS GLS2
Sources

Sources for Aortic Valve Disease 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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