MCID: ART115
MIFTS: 51

Aortic Valve Disease 1

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

Aliases & Classifications for Aortic Valve Disease 1

MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 53 71 41 69
Aortic Valve Disease 53 12 71 13 51 14
Bicuspid Aortic Valve 53 71
Aortic Valve Disorder 28 69
Aovd1 53 71
Bav 53 71
Abnormality of the Aortic Valve 28
Aortic Valve, Calcification of 53
Calcification of Aortic Valve 71
Bicuspid Aortic Valve; Bav 53
Aortic Valve Calcification 69
Aortic Stenosis, Calcific 53
Calcific Aortic Stenosis 71
Aortic Valve, Bicuspid 53
Aortic Valve Disease 2 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant form


HPO:

31
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 109730
Disease Ontology 12 DOID:62
ICD9CM 34 395 424.1
NCIt 46 C78650
SNOMED-CT 64 194988001 8722008
ICD10 32 I39.1
SNOMED-CT via HPO 65 263681008 72352009 60573004

Summaries for Aortic Valve Disease 1

OMIM : 53 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 disease, and has symptoms including bicuspid aortic valve and aortic valve stenosis. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch 1), and among its related pathways/superpathways are Angiogenesis (CST) and Elastic fibre formation. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 The aortic valve is a valve in the human heart between the left ventricle and the aorta. It is one of... more...

Related Diseases for Aortic Valve Disease 1

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 115)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 32.3 ACE ELN FBN1 NKX2-6 NOTCH1 NPPB
2 aortic disease 31.0 ELN FBN1 NOTCH1 REN
3 aortic valve disease 2 30.9 ACE BMP2 CD1A CRP DSP ELN
4 aortic coarctation 30.6 ACE FBN1 NOTCH1
5 congestive heart failure 29.4 ACE NPPB REN
6 familial bicuspid aortic valve 12.4
7 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.3
8 scheie syndrome 11.0
9 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.7 ELN FBN1
10 late-onset focal dermal elastosis 10.7 ELN FBN1
11 plica syndrome 10.7 ELN VWF
12 familial abdominal aortic aneurysm 10.7 ELN FBN1
13 hepatoportal sclerosis 10.6 ACE ELN
14 hyporeninemic hypoaldosteronism 10.6 ACE REN
15 tympanic membrane disease 10.6 NOTCH1 SPP1
16 chronic angina 10.6 NPPB REN
17 renal artery obstruction 10.6 ACE REN
18 pyomyositis 10.6 CRP NOTCH1
19 anterolateral myocardial infarction 10.6 ACE NPPB
20 hypertension, diastolic 10.6 ACE REN
21 chronic actinic dermatitis 10.6 ELN FBN1
22 generalized atherosclerosis 10.6 ACE CRP
23 tricuspid valve stenosis 10.6 FBN1 NKX2-6 NOTCH1
24 hypertensive retinopathy 10.5 ACE REN VWF
25 angina pectoris 10.5 ACE CRP VWF
26 tricuspid valve disease 10.5 FBN1 NKX2-6 NPPB
27 mid-dermal elastolysis 10.5 ELN FBN1
28 atrial septal defect 4 10.5 ACE REN
29 collagen disease 10.5 ELN FBN1 VWF
30 ischemic heart disease 10.5 ACE CRP NPPB
31 intermittent claudication 10.5 ACE CRP VWF
32 bone resorption disease 10.5 BMP2 RUNX2 SPP1
33 systolic heart failure 10.5 ACE CRP NPPB
34 chronic thromboembolic pulmonary hypertension 10.5 CRP NPPB
35 renal hypertension 10.5 ACE NPPB REN
36 chromosomal deletion syndrome 10.5 ELN GTF2IRD1 NKX2-6
37 acute adrenal insufficiency 10.5 POMC REN
38 scleredema adultorum 10.5 FBN1 POMC
39 orthostatic proteinuria 10.5 ACE REN
40 heart conduction disease 10.5 ACE CRP NPPB
41 cardiogenic shock 10.5 CRP NPPB
42 renal dysplasia 10.5 ACE BMP2 REN
43 intrinsic cardiomyopathy 10.5 ACE DSP TNNI3
44 hypoplastic left heart syndrome 10.5 NOTCH1 NPPB TNNI3
45 limb ischemia 10.5 ACE TNNI3 VWF
46 peripheral vascular disease 10.5 ACE CRP VWF
47 syndrome of inappropriate antidiuretic hormone 10.5 ACE NPPB POMC
48 granulomatous gastritis 10.5 NOTCH1 SPP1
49 carotid stenosis 10.5 ACE CRP SPP1
50 interstitial nephritis 10.5 ACE CRP 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

Symptoms & Phenotypes for Aortic Valve Disease 1

Symptoms via clinical synopsis from OMIM:

53
Cardiac:
bicuspid aortic valve

Misc:
male preponderance
systolic ejection click


Clinical features from OMIM:

109730

Human phenotypes related to Aortic Valve Disease 1:

31
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 HP:0001647
2 aortic valve stenosis 31 HP:0001650

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.33 CRP DSP NKX2-6 FBN1 NOTCH1 ACE
2 growth/size/body region MP:0005378 10.18 HCK DSP NKX2-6 FBN1 ACE GTF2IRD1
3 homeostasis/metabolism MP:0005376 10.17 HCK CRP NKX2-6 FBN1 NOTCH1 ACE
4 hematopoietic system MP:0005397 10.11 HCK FBN1 ACE BMP2 VWF REN
5 mortality/aging MP:0010768 10.03 DSP NKX2-6 FBN1 NOTCH1 ACE GLS
6 immune system MP:0005387 10 CRP HCK FBN1 ACE BMP2 POMC
7 craniofacial MP:0005382 9.98 DSP FBN1 GTF2IRD1 BMP2 RUNX2 NOTCH1
8 muscle MP:0005369 9.56 DSP FBN1 NOTCH1 GTF2IRD1 TNNI3 REN
9 respiratory system MP:0005388 9.28 HCK NKX2-6 FBN1 NOTCH1 GLS GTF2IRD1

Drugs & Therapeutics for Aortic Valve Disease 1

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

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 1,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 33255 656510
5
Vancomycin Approved Phase 4 1404-90-6 14969 441141
6
Warfarin Approved Phase 4,Phase 1,Not Applicable 81-81-2 54678486 6691
7
Ticagrelor Approved Phase 4 274693-27-5 9871419
8
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 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
12 Pharmaceutical Solutions Phase 4,Phase 3,Not Applicable
13 Analgesics Phase 4,Phase 1,Not Applicable
14 Analgesics, Non-Narcotic Phase 4,Phase 1,Not Applicable
15 Anti-Inflammatory Agents Phase 4,Phase 1,Not Applicable
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Not Applicable
17 Antipyretics Phase 4,Phase 1,Not Applicable
18 Antirheumatic Agents Phase 4,Phase 1,Not Applicable
19 Cyclooxygenase Inhibitors Phase 4,Phase 1,Not Applicable
20 Cytochrome P-450 Enzyme Inhibitors Phase 4,Not Applicable
21 Fibrinolytic Agents Phase 4,Phase 1,Not Applicable
22 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
23 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Not Applicable
24 Platelet Aggregation Inhibitors Phase 4,Phase 1,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
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 10883523 5280795 6221

Interventional clinical trials:

(show top 50) (show all 112)

# 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 Transcranial Doppler (TCD) Assessment During Early Anti-thrombotic Therapy After Bioprosthetic Aortic Valve Replacement Completed NCT00465218 Phase 1
18 Transapical Implantation of Ventor Embracer™ Valve in Patients With Severe Aortic Valve Disease Unknown status NCT00677638 Not Applicable
19 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
20 Risk Factors Associated With Calcification of the Aortic Valve Unknown status NCT00375336 Not Applicable
21 Cardiac Vascular Reconstruction DynaCT for TAVI Procedures Unknown status NCT02031796 Not Applicable
22 Use of Transvenous Pacing Wire During Minimally Invasive Port Access Aortic Valve Surgery Unknown status NCT01631188 Not Applicable
23 Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation) Unknown status NCT00708409
24 Comparison of Priming Constituents in Patients Undergoing CPB Assisted Cardiac Surgery: HES 130/0.4 or Albumin 5% Unknown status NCT01849757 Not Applicable
25 Quantitative Measurement of Myocardial Perfusion by Cardiac CT in Patients Unknown status NCT02361996
26 PERCEVAL Pivotal Trial Unknown status NCT00860730 Not Applicable
27 Optimizing Health Outcomes in Patients With Symptomatic Aortic Valve Disease Completed NCT02266251
28 The Impact of 24/7-phone Support on Readmission After Aortic Valve Replacement, a Randomized Clinical Trial Completed NCT02522663 Not Applicable
29 Implementation of Non-size Markers Derived From 4D Flow MRI of Patients With Aortic Disease. Completed NCT02467062 Not Applicable
30 Semi-automatic assessMent of Aortic Roots by Three-dimensional transoEsophageal echocaRdiography (SMARTER) Completed NCT02724709
31 Observatory of Anticoagulation After Bioprosthetic Aortic Valve Replacement Completed NCT01293188
32 Twenty-five-year Experience With the Medtronic-Hall Valve Prosthesis Completed NCT00486928
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 Transcatheter Aortic Valve Intervention-Live Transmission Completed NCT01353287
39 CO2 Versus Lund De-airing Technique in Heart Surgery Completed NCT00934596 Not Applicable carbon-dioxide insufflation
40 EDWARDS INTUITY Valve System FOUNDATION Study Completed NCT02338154
41 REpositionable Percutaneous Replacement of Stenotic Aortic Valve Through Implantation of Lotus™ Valve SystEm Completed NCT01383720 Not Applicable
42 Progel Vascular Sealant Completed NCT01959503 Not Applicable
43 Left Atrial Cryoablation Enhanced by Ganglionated Plexi Ablation in the Treatment of Atrial Fibrillation Completed NCT03239262 Not Applicable
44 First in Man Study of the JenaValve TAVI Plus System Transfemoral Completed NCT02818959 Not Applicable
45 Cardiac Output Pulmonary Arterial Catheter Compared to FloWave™ 1000 Completed NCT00665301
46 Identification of Genetic Mechanisms of Bicuspid Aortic Valve Disease Recruiting NCT01026571
47 International Bicuspid Aortic Valve Consortium (BAVCon) Recruiting NCT01980797
48 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
49 Characterization and Role of Mutations in Sodium-phosphate Cotransporters in Patients With Calcific Aortic Valve Disease Recruiting NCT01939678
50 Bicuspid Aortic Valve (BAV) Registry Recruiting NCT01756222

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease 1

Genetic Tests for Aortic Valve Disease 1

Genetic tests related to Aortic Valve Disease 1:

# Genetic test Affiliating Genes
1 Aortic Valve Disorder 28 NOTCH1
2 Abnormality of the Aortic Valve 28

Anatomical Context for Aortic Valve Disease 1

MalaCards organs/tissues related to Aortic Valve Disease 1:

38
Heart

Publications for Aortic Valve Disease 1

Articles related to Aortic Valve Disease 1:

(show top 50) (show all 81)
# Title Authors Year
1
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease. ( 28657660 )
2017
2
Lipoprotein (a) in calcific aortic valve disease: from genomics to novel drug target for aortic stenosis. ( 26685327 )
2016
3
Altered DNA Methylation of Long Noncoding RNA H19 in Calcific Aortic Valve Disease Promotes Mineralization by Silencing NOTCH1. ( 27789555 )
2016
4
Lipoprotein(a) Levels Are Associated With Subclinical Calcific Aortic Valve Disease in White and Black Individuals: The Multi-Ethnic Study of Atherosclerosis. ( 26941019 )
2016
5
Response to Statin Use and Aneurysm Risk in Patients With Bicuspid Aortic Valve Disease. ( 27217056 )
2016
6
Collagen analysis of the ascending aortic dilatation associated with bicuspid aortic valve disease compared with tricuspid aortic valve. ( 27595307 )
2016
7
A Modified Epicardial Radiofrequency Ablation for Preoperative Atrial Fibrillation Combined With Isolated Aortic Valve Disease. ( 27211963 )
2016
8
Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing. ( 25547111 )
2015
9
Almanac 2014: aortic valve disease. ( 25828459 )
2015
10
Multimodality and molecular imaging of matrix metalloproteinase activation in calcific aortic valve disease. ( 25908827 )
2015
11
Bicuspid aortic valve disease and ascending aortic aneurysm: should an aortic root replacement be mandatory?a8 ( 25750009 )
2015
12
One stage surgical treatment of aortic valve disease and aortic coarctation with aortic bypass grafting through the diaphragm and aortic valve replacement. ( 26555654 )
2015
13
Predictors of Ascending Aortic Dilation in Bicuspid Aortic Valve Disease: A Five-year Prospective Study. ( 25644322 )
2015
14
Expression and Localization of Granzymes and Perforin in Human Calcific Aortic Valve Disease. ( 26897841 )
2015
15
SALTIRE-RAAVE: targeting calcific aortic valve disease LDL-density-radius theory. ( 25797901 )
2015
16
Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease. ( 26553695 )
2015
17
Adenosine derived from ecto-nucleotidases in calcific aortic valve disease promotes mineralization through A2a adenosine receptor. ( 25644539 )
2015
18
Individualized treatment strategies for patients with aortic valve disease and porcelain aorta. ( 25454923 )
2015
19
Under-recognition of aortic and aortic valve disease and the risk for sudden death in competitive athletes. ( 25720631 )
2015
20
Elevated expression of lipoprotein-associated phospholipase A2 in calcific aortic valve disease: implications for valve mineralization. ( 24161325 )
2014
21
A 16-year experience in minimally invasive aortic valve replacement: context for the changing management of aortic valve disease. ( 24758946 )
2014
22
Mixed aortic valve disease in the young: initial observations. ( 24563072 )
2014
23
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
24
TGF-I^ mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse model of aortic valve disease. ( 25056700 )
2014
25
Transcatheter aortic valve replacement with a balloon-expandable valve for the treatment of noncalcified bicuspid aortic valve disease. ( 24774600 )
2014
26
Aortic valve disease. ( 24898790 )
2014
27
Surgical approach to aortic valve disease with concomitant dilation of the proximal aorta. ( 24630223 )
2014
28
Tirone David procedure for bicuspid aortic valve disease: impact of root geometry and valve type on mid-term outcomes. ( 24903440 )
2014
29
Bicuspid aortic valve disease and lipoprotein(a)--a concept worth exploring? ( 24746505 )
2014
30
Calcific aortic valve disease: a consensus summary from the alliance of investigators on calcific aortic valve disease. ( 25189570 )
2014
31
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
32
How to approach aortic valve disease in the elderly: a 25-year retrospective study. ( 25629541 )
2014
33
Transcatheter aortic valve replacement in bicuspid aortic valve disease. ( 25465419 )
2014
34
Trileaflet aortic valve commissural fusion: a rare cause of aortic valve disease and systolic ejection sounds. ( 24899220 )
2014
35
Impact of wait times on the effectiveness of transcatheter aortic valve replacement in severe aortic valve disease: a discrete event simulation model. ( 25047363 )
2014
36
Does aortic valve disease etiology predict postoperative atrial fibrillation in patients undergoing aortic valve surgery? ( 25495813 )
2014
37
Aortic valve disease as a first manifestation of Alcaptonuria in surgically treated patient. Case report. ( 25712292 )
2014
38
Etiology of bicuspid aortic valve disease: Focus on hemodynamics. ( 25548612 )
2014
39
Early hemodynamic performance of the trifecta bioprosthetic valve in patients with aortic valve disease. ( 24717287 )
2014
40
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
41
Surgical approach to aortic valve disease with concomitant dilation of the proximal aorta: the authors' response. ( 24630232 )
2014
42
Valve tissue characterization by magnetic resonance imaging in calcific aortic valve disease. ( 25475469 )
2014
43
Advances in the treatment of aortic valve disease: is it time for companion diagnostics? ( 25089943 )
2014
44
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
45
Prevalence and length of hospital stay in patients with aortic valve disease is lower amongst South Asians. ( 25499331 )
2014
46
P2Y2 receptor represses IL-6 expression by valve interstitial cells through Akt: implication for calcific aortic valve disease. ( 24631773 )
2014
47
Basic mechanisms of calcific aortic valve disease. ( 25085215 )
2014
48
Aortic valve reconstruction with use of pericardial leaflets in adults with bicuspid aortic valve disease: early and midterm outcomes. ( 25593520 )
2014
49
Molecular biology of calcific aortic valve disease: towards new pharmacological therapies. ( 24857537 )
2014
50
Heritable retinoblastoma and accelerated aortic valve disease. ( 23595191 )
2013

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

6
# 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.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh38 Chromosome 9, 136505384: 136505384
3 NOTCH1 NM_017617.4(NOTCH1): c.2380delG (p.Glu794Serfs) deletion Likely pathogenic rs863224901 GRCh37 Chromosome 9, 139407560: 139407560
4 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh37 Chromosome 9, 139401304: 139401304
5 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh37 Chromosome 9, 139407501: 139407501
6 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
7 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh37 Chromosome 9, 139391843: 139391843

Expression for Aortic Valve Disease 1

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

Pathways for Aortic Valve Disease 1

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

# Super pathways Score Top Affiliating Genes
1 11.38 NOTCH1 REN VWF
2
Show member pathways
11.2 BMP2 ELN FBN1
3 10.93 DSP ELN SPP1
4 10.91 BMP2 RUNX2 SPP1 TNNI3

GO Terms for Aortic Valve Disease 1

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 9.56 ACE BMP2 CRP FBN1 NPPB POMC
2 extracellular region GO:0005576 9.36 ACE BMP2 CRP ELN FBN1 NOTCH1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.77 ACE FBN1 REN
2 regulation of receptor activity GO:0010469 9.77 BMP2 FBN1 NPPB POMC SPP1
3 osteoblast differentiation GO:0001649 9.76 BMP2 RUNX2 SPP1
4 extracellular matrix disassembly GO:0022617 9.61 ELN FBN1 SPP1
5 endocardial cushion morphogenesis GO:0003203 9.58 BMP2 NOTCH1
6 heart contraction GO:0060047 9.56 ACE TNNI3
7 extracellular matrix organization GO:0030198 9.56 ELN FBN1 SPP1 VWF
8 amyloid-beta metabolic process GO:0050435 9.55 ACE REN
9 regulation of blood vessel diameter GO:0097746 9.54 ACE NPPB
10 cardiac epithelial to mesenchymal transition GO:0060317 9.52 BMP2 NOTCH1
11 angiotensin maturation GO:0002003 9.51 ACE REN
12 cardiac muscle tissue morphogenesis GO:0055008 9.49 BMP2 NOTCH1
13 atrioventricular valve morphogenesis GO:0003181 9.48 BMP2 NOTCH1
14 positive regulation of astrocyte differentiation GO:0048711 9.46 BMP2 NOTCH1
15 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.4 BMP2 RUNX2
16 heart development GO:0007507 9.35 BMP2 FBN1 NKX2-6 NOTCH1 TNNI3
17 pericardium development GO:0060039 9.32 BMP2 NKX2-6
18 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.16 BMP2 RUNX2
19 regulation of blood pressure GO:0008217 8.92 ACE NPPB POMC REN
20 cell differentiation GO:0030154 10.04 BMP2 HCK NKX2-6 NOTCH1 RUNX2 SPP1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 FBN1 NPPB POMC
2 receptor binding GO:0005102 9.02 BMP2 HCK NPPB POMC REN

Sources for Aortic Valve Disease 1

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....