Aortic Valve Disease 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AOVD1 MCID: ART115 MIFTS: 78	Aortic Valve Disease 1 (AOVD1) Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Aortic Valve Disease 1

MalaCards integrated aliases for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Aortic Valve Disease ⁵⁷ ¹¹ ⁷³ ¹² ⁵³ ⁴³ ¹⁴ ¹⁶ ³³

Bicuspid Aortic Valve ⁵⁷ ⁷⁵ ⁷³ ²⁸ ⁵³ ⁵ ³³

Bicuspid Aortic Valve Disease ¹¹ ⁴³ ¹⁴

Aortic Valve Disorder ²⁸ ⁵ ⁷¹

Familial Bicuspid Aortic Valve ¹¹ ⁵⁸

Aortic Valve Calcification ¹⁶ ⁷¹

Aovd1 ⁵⁷ ⁷³

Bav ⁵⁷ ⁷³

Abnormality of the Aortic Valve ⁵

Aortic Valve, Calcification of ⁵⁷

Calcification of Aortic Valve ⁷³

Aortic Valve Disease, Type 1 ³⁸

Bicommissural Aortic Valve ³³

Aortic Stenosis, Calcific ⁵⁷

Calcific Aortic Stenosis ⁷³

Aortic Valve, Bicuspid ⁵⁷

Aortic Valve Disease 2 ⁷¹

Familial Bav ⁵⁸

Aovd ⁵⁷

Characteristics:

Inheritance:

Aortic Valve Disease 1: Autosomal dominant ⁵⁷

Familial Bicuspid Aortic Valve: Autosomal dominant ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of aortic and mitral valves

Congenital insufficiency of aortic valve

Diseases of the circulatory system

Other forms of heart disease

Endocarditis and heart valve disorders in diseases classified elsewhere

Aortic valve disorders in diseases classified elsewhere

Nonrheumatic aortic valve disorders

Aortic valve disorder, unspecified

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the circulatory system

Structural developmental anomaly of heart or great vessels

Congenital anomaly of a ventriculo-arterial valve or adjacent regions

Congenital anomaly of aortic valve

Bicuspid aortic valve

Diseases of the circulatory system

Heart valve diseases

Aortic valve disease

Aortic valve disease, unspecified

Other specified aortic valve disease

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0080332 DOID:0080333 DOID:62

OMIM® ⁵⁷ 109730

OMIM Phenotypic Series ⁵⁷ PS109730

ICD9CM ³⁴ 424.1

MeSH ⁴³ D000082862 D000082882 D001024

NCIt ⁴⁹ C78650

SNOMED-CT ⁶⁸ 8722008

ICD10 ³¹ I35.9 I39.1

ICD10 via Orphanet ³² Q23.1

Orphanet ⁵⁸ ORPHA402075

MedGen ⁴⁰ C0149630 C0428791 C1260873 more

SNOMED-CT via HPO ⁶⁹ 23063005 24184005 250978003 more

EFO ¹⁶ EFO_0005239 EFO_0009531

ICD11 ³³ 1328968452 1609206873 1609206873/other more

UMLS ⁷¹ C0428791 C1260873 C3542024 more

Sources

Summaries for Aortic Valve Disease 1

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) (Updated 08-Dec-2022)

MalaCards based summary: Aortic Valve Disease 1, also known as aortic valve disease, is related to aortic valve insufficiency and loeys-dietz syndrome 4. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Amlodipine and Chlorthalidone have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and smooth muscle, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Orphanet: ⁵⁸ Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

UniProtKB/Swiss-Prot: ⁷³ 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 ¹¹ Aortic valve disease 1: A bicuspid aortic valve disease that has material basis in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.

Bicuspid aortic valve disease: An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.

Wikipedia: ⁷⁵ Bicuspid aortic valve (aka BAV) is a form of heart disease in which two of the leaflets of the aortic... more...

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Related Diseases for Aortic Valve Disease 1

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1	Aortic Valve Disease 2
Aortic Valve Disease 3

Diseases related to Aortic Valve Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 474)

#	Related Disease	Score	Top Affiliating Genes
1	aortic valve insufficiency	33.1	NKX2-5 MYH11 GATA5 FBN1 ELN EFEMP2
2	loeys-dietz syndrome 4	32.7	MYH11 FBN1 ELN
3	aortic valve disease 2	32.4	SMAD6 NOTCH1 NKX2-5 FBN1 ELN
4	aortic aneurysm	31.9	ROBO4 NOTCH1 MYH11 FBN1 ELN EFEMP2
5	left ventricular noncompaction	31.8	NOTCH1 NKX2-5 JAG1 HEY2 FBN1 DSP
6	heart valve disease	31.8	NKX2-5 FBN1 ELN
7	aortic dissection	31.6	MYH11 FBN1 ELN EFEMP2 ACTA2
8	lipoprotein quantitative trait locus	31.6	NOTCH1 NKX2-5 MYH11 H19 FBN1 ELN
9	aortic disease	31.6	MYH11 FBN1 ELN EFEMP2 ACTA2
10	hypoplastic left heart syndrome	31.5	SMAD6 ROBO4 NOTCH1 NKX2-5 JAG1 HEY2
11	loeys-dietz syndrome	31.5	SMAD6 NOTCH1 MYH11 FBN1 ELN EFEMP2
12	supravalvular aortic stenosis	31.5	MYH11 FBN1 ELN EFEMP2 ACTA2
13	hypertrophic cardiomyopathy	31.5	SOS1 NKX2-5 MYH11 MT-ATP8 MT-ATP6 FBN1
14	mitral valve insufficiency	31.5	MYH11 FBN1 ELN
15	heart septal defect	31.3	SOS1 NOTCH1 NKX2-5 JAG1 HEY2 GATA5
16	aortic aneurysm, familial thoracic 4	31.3	NOTCH1 MYH11 JAG1 FBN1 ACTA2
17	ventricular septal defect	31.3	NOTCH1 NKX2-5 JAG1 HEY2 GATA5
18	aortic aneurysm, familial thoracic 1	31.3	SMAD6 ROBO4 NOTCH1 NKX2-5 MYH11 JAG1
19	aortic aneurysm, familial abdominal, 1	31.2	MYH11 H19 FBN1 ELN EFEMP2 ACTA2
20	marfan syndrome	31.1	FBN1 ELN ACTA2
21	heart disease	31.1	TAB2 SOS1 SMAD6 NOTCH1 NKX2-5 JAG1
22	subclavian artery aneurysm	31.1	FBN1 ELN
23	noonan syndrome 1	31.0	TAB2 SOS1 NOTCH1 NKX2-5 JAG1 FBN1
24	dilated cardiomyopathy	31.0	SOS1 NOTCH1 NKX2-5 MYH11 FBN1 ELN
25	orthostatic intolerance	31.0	NKX2-5 MYH11 FBN1 ELN EFEMP2 ACTA2
26	double outlet right ventricle	31.0	NOTCH1 NKX2-5 JAG1 HEY2 GATA5
27	arterial tortuosity syndrome	30.9	MYH11 FBN1 ELN EFEMP2 ACTA2
28	atrioventricular septal defect	30.9	NOTCH1 NKX2-5 HEY2 GATA5
29	pulmonary valve stenosis	30.9	SOS1 NKX2-5 JAG1
30	diaphragmatic hernia, congenital	30.9	ROBO4 FBN1 ELN EFEMP2
31	aortitis	30.8	FBN1 ELN
32	patent ductus arteriosus 1	30.8	SOS1 NOTCH1 NKX2-5 MYH11 JAG1 GATA5
33	tetralogy of fallot	30.8	SOS1 NOTCH1 NKX2-5 MYH11 JAG1 HEY2
34	atrial heart septal defect	30.8	SOS1 NOTCH1 NKX2-5 MYH11 JAG1 HEY2
35	tricuspid valve stenosis	30.8	NKX2-5 HEY2
36	patent foramen ovale	30.8	TAB2 SOS1 NKX2-5 JAG1 GATA5 FBN1
37	heart, malformation of	30.7	SMAD6 JAG1
38	williams-beuren syndrome	30.7	NKX2-5 MYH11 FBN1 ELN EFEMP2 ACTA2
39	arteriovenous malformation	30.7	NOTCH1 JAG1 HEY2 HEY1
40	adams-oliver syndrome	30.7	NOTCH1 JAG1 HEY2 HEY1
41	pulmonary valve disease	30.6	SOS1 NKX2-5 FBN1
42	tricuspid valve prolapse	30.5	FBN1 EFEMP2
43	pulmonary valve insufficiency	30.3	NKX2-5 FBN1
44	patent ductus arteriosus and bicuspid aortic valve with hand anomalies	11.8
45	holt-oram syndrome	11.3
46	potocki-lupski syndrome	11.3
47	shone complex	11.3
48	periventricular nodular heterotopia 1	11.3
49	congenital heart defects, multiple types, 2	11.3
50	persistent left superior vena cava connecting through coronary sinus to left-sided atrium	11.3

Comorbidity relations with Aortic Valve Disease 1 via Phenotypic Disease Network (PDN): (show top 50) (show all 69)

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 Disease	Decubitus Ulcer
Deficiency Anemia	Dental Caries
Disseminated Intravascular Coagulation	Dressler's Syndrome
Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development	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	Kidney Disease
Left Bundle Branch Hemiblock	Malignant Essential Hypertension
Marfan Syndrome	Mitral Valve Disease
Mitral Valve Stenosis	Mobitz Type Ii Atrioventricular Block
Nutmeg Liver	Osteoporosis

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

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Symptoms & Phenotypes for Aortic Valve Disease 1

Human phenotypes related to Aortic Valve Disease 1:

⁵⁸ ³⁰ (show all 17)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	bicuspid aortic valve ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0001647
2	coarctation of aorta ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001680
3	aortic valve calcification ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004380
4	aortic valve stenosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001650
5	aortic regurgitation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001659
6	heart murmur ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0030148
7	thoracic aorta calcification ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004962
8	hypertension ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000822
9	aortic arch aneurysm ³⁰	Frequent (33%)		HP:0005113
10	hypoplastic left heart ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0004383
11	ascending aortic dissection ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0004933
12	abnormal left ventricular outflow tract morphology ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0011103
13	ventricular septal defect ³⁰	Very rare (1%)		HP:0001629
14	mitral stenosis ³⁰	Very rare (1%)		HP:0001718
15	mitral atresia ³⁰	Very rare (1%)		HP:0011560
16	double outlet right ventricle ³⁰	Very rare (1%)		HP:0001719
17	dilatation of the aortic arch ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
bicuspid aortic valve
aortic calcification
aortic stenosis
mitral stenosis (rare)
mitral valve atresia (rare)
more

Cardiovascular Vascular:
aneurysm of ascending aorta

Clinical features from OMIM®:

109730 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10.31	ACTA2 DSP EFEMP2 ELN FBN1 GATA5
2	cardiovascular system	MP:0005385	10.16	ACTA2 DSP EFEMP2 ELN FBN1 GATA5
3	cellular	MP:0005384	10.1	DSP EFEMP2 FBN1 GATA5 HEY1 JAG1
4	embryo	MP:0005380	10.06	DSP FBN1 HEY1 HEY2 JAG1 NKX2-5
5	craniofacial	MP:0005382	9.97	DSP FBN1 HEY1 HEY2 JAG1 NKX2-5
6	mortality/aging	MP:0010768	9.83	DSP EFEMP2 ELN FBN1 GATA5 HEY1
7	respiratory system	MP:0005388	9.76	EFEMP2 ELN FBN1 HEY2 MYH11 NKX2-5
8	integument	MP:0010771	9.4	DSG1 DSP EFEMP2 FBN1 GATA5 JAG1

Sources

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 163)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Amlodipine

Approved

Phase 4

88150-42-9

2162

Chlorthalidone

Approved

Phase 4

77-36-1

2732

Ticagrelor

Approved

Phase 4

274693-27-5

9871419

Vancomycin

Approved

Phase 4

1404-90-6

14969

Cefazolin

Approved

Phase 4

25953-19-9

33255

Rivaroxaban

Approved

Phase 4

366789-02-8

9875401

Phylloquinone

Approved, Investigational

Phase 4

84-80-0

5284607

Acenocoumarol

Approved, Investigational

Phase 4

152-72-7

54676537 9052

Phenprocoumon

Approved, Investigational

Phase 4

435-97-2

54680692 9908

Dabigatran

Approved, Investigational

Phase 4

211914-51-1

216210

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Menadione

Approved, Nutraceutical

Phase 4

58-27-5

4055

Menaquinone

Investigational

Phase 4

1182-68-9

Vasodilator Agents

Phase 4

Sodium Chloride Symporter Inhibitors

Phase 4

Anti-Bacterial Agents

Phase 4

Anti-Infective Agents

Phase 4

Vitamins

Phase 4

Trace Elements

Phase 4

Micronutrients

Phase 4

Factor Xa Inhibitors

Phase 4

HIV Protease Inhibitors

Phase 4

Serine Proteinase Inhibitors

Phase 4

Antithrombins

Phase 4

Antithrombin III

Phase 4

protease inhibitors

Phase 4

Vitamin K

Phase 4

Antifibrinolytic Agents

Phase 4

Hemostatics

Phase 4

Naphthoquinone

Phase 4

Coagulants

Phase 4

Cardioplegic Solutions

Phase 4

Protamines

Phase 4

Dipeptidyl-Peptidase IV Inhibitors

Phase 4

Pharmaceutical Solutions

Phase 4

Anesthetics

Phase 4

Anesthetics, Local

Phase 4

Epinephryl borate

Phase 4

Carticaine

Phase 4

Serine

Investigational, Nutraceutical

Phase 4

56-45-1

5951

Colchicine

Approved

Phase 3

64-86-8

2833 6167

Atorvastatin

Approved

Phase 3

134523-00-5

60823

Ezetimibe

Approved

Phase 3

163222-33-1

150311

Evolocumab

Approved

Phase 3

1256937-27-5

Apixaban

Approved

Phase 3

503612-47-3

10182969

Atenolol

Approved

Phase 3

29122-68-7

2249

Telmisartan

Approved, Investigational

Phase 3

144701-48-4

65999

Vitamin K 1

Phase 3

Interventional clinical trials:

(show top 50) (show all 213)

#	Name	Status	NCT ID	Phase	Drugs
1	Preventing Contrast Induced Nephropathy After Transcatheter Aortic Valve Replacement	Unknown status	NCT03121053	Phase 4	sodium bicarbonate;hypotone saline
2	A Prospective, Multicentre, Randomized, Open Label, Evaluator-Blind, Phase IV Study to Evaluate the Effect on Improvement of Left Ventricular Hypertrophy by the Control of Blood Pressure in Hypertension Patients With Aortic Valve Disease	Completed	NCT03666351	Phase 4	Amlodipine 5mg;Losartan;Losartan and Amlodipine;Amlodipine/Losartan/Chlorthalidone;current treatment
3	Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation	Completed	NCT02247128	Phase 4	Aspirin + clopidogrel;Aspirin monotherapy;OAC + clopicogrel;OAC monotherapy
4	Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only	Completed	NCT03807921	Phase 4	Warfarin;Aspirin
5	Aspirin Versus Aspirin + ClopidogRel as Antithrombotic Treatment Following Transcatheter Aortic Valve Implantation With the Edwards Valve. A Randomized Study (the ARTE Trial)	Completed	NCT02640794	Phase 4	Clopidogrel;Aspirin
6	Aspirin Versus Aspirin + ClopidogRel as Antithrombotic Treatment Following Transcatheter Aortic Valve Implantation With the Edwards SAPIEN XT Valve. A Randomized Pilot Study (the ARTE Trial)	Completed	NCT01559298	Phase 4	Aspirin (80 mg/d) + clopidogrel (75 mg/d);Aspirin
7	Effect of Pre-operative Prophylaxis With Vancomycin on Rate of Cefazolin Non-susceptible Gram Positive Surgical Site Infections in Cardiovascular Surgery Patients	Completed	NCT01619982	Phase 4	Cefazolin 25 mg/kg body weight and Vancomycin hydrochloride;Cefazolin 30 mg/kg body weight
8	Periprocedural Continuation Versus Interruption of Oral Anticoagulant Drugs During Transcatheter Aortic Valve Implantation (POPular PAUSE TAVI)	Recruiting	NCT04437303	Phase 4	Continuation of oral anticoagulants;Interruption of oral anticoagulants
9	Effects of Microplegia on Transfusion Rates After Cardiac Surgery: A Randomized Prospective Analysis	Recruiting	NCT05076604	Phase 4	Cardioplegia Solution;Microplegic Solution No. 1
10	Randomized, Evaluation of Long-term Anticoagulation With Oral Factor Xa Inhibitor Versus Vitamin K Antagonist After Mechanical Aortic Valve Replacement	Recruiting	NCT04258488	Phase 4	Rivaroxaban Oral Tablet;Vitamin K antagonist(warfarin)
11	An Open-label, Randomized Study of Inhibitory Effect of Evogliptin, the Dipeptidyl Peptidase-4 Inhibitor, on the Progression of Aortic Valve Calcification in Patients With Type 2 Diabetes Mellitus and Mild-to-moderate Aortic Stenosis	Not yet recruiting	NCT04521452	Phase 4	Evogliptin
12	Comparison of Periosteal and Subcutaneous Infusions of Articaine and Bupivacaine in Treatment of Acute Pain After Sternotomy	Suspended	NCT01536717	Phase 4	Articaine hydrochloride 2% solution;Sodium Chloride
13	A Prospective Randomized Double Blind Multicenter Phase III Study Comparing Two Methods of Cardioplegia in Aortic Valve Surgery Custodiol-N Versus Custodiol	Completed	NCT02098772	Phase 3	Custodiol-N;Custodiol
14	Evaluating the Effectiveness of Atorvastatin on the Progression of Aortic Dilatation and Valvular Degeneration in Patients With Bicuspid Aortic Valve (BICATOR)	Completed	NCT02679261	Phase 3	Atorvastatin;Placebo
15	Vitamin K Containing Nutritional Supplement for Activation of Matrix-GIa-proteins (MGP) and Inhibition of Aortic Valve Calcification Process	Completed	NCT00785109	Phase 3
16	An Adaptive Phase 2/3 Multicenter, Double-Blind, Placebo-Controlled, Randomized, Parallel, 3 Arm Study to Evaluate the Efficacy and Safety of DA-1229 (Evogliptin) in Patient's Calcific Aortic Valve Disease With Mild to Moderate Aortic Stenosis (EVOID-AS)	Recruiting	NCT05143177	Phase 2, Phase 3	Evogliptin;Placebo
17	Does Colchicine Reduce Progression of Aortic Valve Stenosis?	Recruiting	NCT05162742	Phase 3	Colchicine;Placebo
18	Effect of PCSK9 Inhibitors on Calcific Aortic Valve Disease：a Prospective Randomized Controlled Trial	Recruiting	NCT04968509	Phase 3	PCSK9 inhibitor and Statin;Statin
19	A Prospective, Randomized, Active (Warfarin) Controlled, Parallel-arm Clinical Trial to Determine if Participants With an On-X Aortic Valve Can be Maintained Safely and Effectively on Apixaban	Active, not recruiting	NCT04142658	Phase 3	Apixaban 5 MG;Apixaban 2.5 MG;Warfarin
20	A Prospective, Multi-center,Randomized Controled Trial of Sizing-strategy of Bicuspid Aortic Valve Stenosis With Transcatheter Self-expandable Valve	Not yet recruiting	NCT02541877	Phase 3
21	Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study)	Terminated	NCT01202721	Phase 3	Atenolol;Telmisartan
22	Decalcification of the Aortic Valve by Vitamin K2 (Menaquinone-7)	Unknown status	NCT03305536	Phase 2
23	Bicuspid Aortic Valve Stenosis and the Effect of vItamin K2 on Calciummetabolism on 18F-NaF PET/MRI (BASIK2): a Pilot Study	Unknown status	NCT02917525	Phase 2
24	A Phase II Randomized, Placebo-Controlled, Double-Blinded Study Evaluating the Effects of Ataciguat (HMR1766) on Aortic Valve Calcification in Patients With Moderate Calcific Aortic Valve Stenosis	Completed	NCT02481258	Phase 2	Ataciguat (HMR1766)
25	SALTIRE II: Bisphosphonates and RANKL Inhibition in Aortic Stenosis	Completed	NCT02132026	Phase 2	Denosumab;Alendronic Acid;Denosumab Placebo;Alendronic Acid Placebo
26	A Multicenter, Double-blind, Placebo-controlled, Stratified-randomized, Parallel, Therapeutic Exploratory Clinical Study to Evaluate the Efficacy and Safety of DA-1229 in Patients With Calcific Aortic Valve Disease	Active, not recruiting	NCT04055883	Phase 2	DA-1229
27	A Prospective, Randomized, Controlled, Multi-Center Study to Establish the Safety and Effectiveness of Transcatheter Aortic Valve Raplacemet in Intermediate Risk Patients Who Have Severe, Calcific, Bicuspid, Aortic Stenosis Requiring Aortic Valve Replacement	Not yet recruiting	NCT03163329	Phase 2
28	This is a Prospective, Open-label Phase 2 Pilot Study With Independent Evaluation of All Outcomes and a Historical Control Group to Determine if Rivaroxaban (Xarelto) is Feasible and Safe for Prevention of Major Complications in Patients Undergoing a Mechanical Aortic Heart Valve Replacement.	Terminated	NCT02128841	Phase 2	Rivaroxaban
29	Risk Markers of Coronary Artery Disease Associated With Calcific Aortic Valve Disease	Unknown status	NCT00375336
30	A Pilot,Randomized Controlled-trial of Lipoprotein(a) Lowering for the Prevention of Aortic Valve Disease-translating Genomic Knowledge for Cardiovascular Prevention	Unknown status	NCT02109614	Early Phase 1	Extended release Niacin;Placebo Comparator
31	Catheter-Based Transapical Implantation of the Ventor Embracer™ Heart Valve Prosthesis in Patients With Severe Aortic Valve Disease	Unknown status	NCT00677638
32	Long-Term Follow-up After the Autograft Aortic Valve Procedure (Ross Operation)-the German-Dutch- Ross Registry	Unknown status	NCT00708409
33	Proof of Concept of Model Based Cardiovascular Prediction	Unknown status	NCT02591940
34	Efficacy and Safety Evaluation for The Interventional Aortic Valve Bioprosthesis and Delivery System in Patients With Severe Aortic Stenosis and/or Aortic Regurgitation With Elevated Surgical Risk	Unknown status	NCT03025971
35	Spanish Percutaneous Aortic INtervention REGISTRY (SPAIN REGISTRY)	Unknown status	NCT04307888
36	VIenna Pilot Study for Automated Annular Suturing Technology to Assist in Aortic & Mitral Valve Replacement - A Single-center Clinical Safety & Feasibility Pilot Trial	Unknown status	NCT04659655
37	Registry Study of Aortic Valve Diseases in Chinese Elderly	Unknown status	NCT02623907
38	Feasibility of Delivering Enhanced Recovery After Cardiac Surgery	Unknown status	NCT03859102		Oral Gabapentin pre-op;Oral Lansoprazole pre-op;Intravenous Paracetamol intra-operatively;Intravenous Dexamethasone intra-operatively;Intravenous Ondansetron intra-operatively;Infiltration of surgical wounds with local anaesthetic;Intravenous Magnesium intra-operatively;Post-operative Gabapentin analgesia;Post-operative oral Paracetamol analgesia;Post-operative Ondansetron anti-emesis
39	Impact of Anesthesia Technique on Post-operative Delirium After Transcatheter Aortic Valve Implantation	Unknown status	NCT03323619
40	Smart - Systems Medicine of Heart Failure	Unknown status	NCT03172338
41	Early Outcomes of Concomitant Transcatheter Aortic Valve Implantation and Off-pump Coronary Artery Bypass Grafting in Management of Severe Symptomatic Aortic Stenosis and Coronary Artery Disease	Unknown status	NCT04525339
42	Clinical Evaluation of the Safety and Performance of the MicroPort's Transcatheter Aortic Valve and Delivery System for Treatment of Severe Aortic Stenosis	Unknown status	NCT02221921
43	Aortic Valve Dynamics During Exercise After Valve Sparing Root Replacement Surgery	Unknown status	NCT04205474
44	BIVOLUTX: Bicuspid Aortic Stenosis With Evolut Platform International Experience.	Unknown status	NCT03495050
45	Whole Exome Sequencing in Bicuspid Aortic Valve Patients	Unknown status	NCT02899624
46	Bicuspid aoRtic vAlVe gEnetic Research - BRAVE Study	Unknown status	NCT04514445
47	Clinical Evaluation of the Safety and Performance of Percutaneous Implantation of the Venus MedTech Aortic Valve Prosthesis for Patients Who Cannot Undergo Surgical Valve Replacement	Unknown status	NCT01683474
48	Left Ventricular Reverse Remodeling in Aortic Valve Replacement With Single Strip Pericardium and Mechanical Valve: A Comparative Study	Unknown status	NCT04056832
49	Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD	Unknown status	NCT02516800
50	Accuracy of Using 2D Transesophageal Echocardiography Compared to Balloon Sizing in Determining Valve Size During Transcatheter Aortic Valve Implantation	Unknown status	NCT04242225

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease

Sources

Genetic Tests for Aortic Valve Disease 1

Genetic tests related to Aortic Valve Disease 1:

#	Genetic test	Affiliating Genes
1	Aortic Valve Disease 1 ²⁸	NOTCH1
2	Bicuspid Aortic Valve ²⁸
3	Aortic Valve Disorder ²⁸

Sources

Anatomical Context for Aortic Valve Disease 1

Organs/tissues related to Aortic Valve Disease 1:

MalaCards : Heart, Endothelial, Smooth Muscle, Whole Blood, Myeloid, Kidney, Bone

ODiseA: Heart

Sources

Publications for Aortic Valve Disease 1

Articles related to Aortic Valve Disease 1:

(show top 50) (show all 7937)

#	Title	Authors	PMID	Year
1	Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. ⁵³ ⁶² ⁵⁷ ⁵	Mohamed SA...Erdmann J	16729972	2006
2	Mutations in NOTCH1 cause aortic valve disease. ⁵³ ⁶² ⁵⁷ ⁵	Garg V...Srivastava D	16025100	2005
3	NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. ⁵⁷ ⁵	McBride KL...Cole SE	18593716	2008
4	Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. ⁵³ ⁶² ⁵⁷	McKellar SH...Sundt TM	17662764	2007
5	Deregulation of Notch1 pathway and circulating endothelial progenitor cell (EPC) number in patients with bicuspid aortic valve with and without ascending aorta aneurysm. ⁶² ⁵⁷	Balistreri CR...Frati G	30218064	2018
6	Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. ⁶² ⁵	Kerstjens-Frederikse WS...Wessels MW	26820064	2016
7	Genetic associations with valvular calcification and aortic stenosis. ⁶² ⁵⁷	Thanassoulis G...CHARGE Extracoronary Calcium Working Group	23388002	2013
8	Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. ⁶² ⁵⁷	Loscalzo ML...Dietz HC	17676603	2007
9	Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. ⁶² ⁵⁷	Martin LJ...Benson DW	17203300	2007
10	Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. ⁶² ⁵⁷	McBride KL...Belmont JW	15690347	2005
11	Autosomal dominant inheritance of left ventricular outflow tract obstruction. ⁶² ⁵⁷	Wessels MW...Willems PJ	15712195	2005
12	Bicuspid aortic valve is heritable. ⁶² ⁵⁷	Cripe L...Benson DW	15234422	2004
13	Ascending aortic aneurysm and dissection in young adults with bicuspid aortic valve: implications for echocardiographic surveillance. ⁶² ⁵⁷	Burks JM...Lubbe WJ	9631276	1998
14	Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. ⁶² ⁵⁷	Clementi M...Tenconi R	8723060	1996
15	Congenitally bicuspid aortic valve in multiple family members. ⁶² ⁵⁷	Glick BN...Roberts WC	8109558	1994
16	Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. ⁶² ⁵⁷	Hahn RT...Devereux RB	1732353	1992
17	Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. ⁶² ⁵⁷	Pachulski RT...Chan KL	2006634	1991
18	Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome. ⁶² ⁵⁷	Miller MJ...Friedman WF	6848727	1983
19	Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. ⁶² ⁵⁷	Emanuel R...Feizi O	737099	1978
20	Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. ⁶² ⁵⁷	McKusick VA	4112361	1972
21	The congenitally bicuspid aortic valve. A study of 85 autopsy cases. ⁶² ⁵⁷	Roberts WC	5427836	1970
22	Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. ⁵	Preuss C...Andelfinger G	27760138	2016
23	Dissection of the aorta associated with congenital malformation of the aortic valve. ⁵⁷	Roberts CS...Roberts WC	1993792	1991
24	[Expression of fibrillin-1 in congenital bicuspid aortic valves]. ⁵³ ⁶²	Huang P...Zheng N	17785109	2007
25	[Gene polymorphisms leading to calcified and stenotic aortic valves]. ⁵³ ⁶²	Anger T...Garlichs CD	17072776	2006
26	Molecular genetics of aortic valve disease. ⁵³ ⁶²	Garg V	16601454	2006
27	Tissue microarray detection of matrix metalloproteinases, in diseased tricuspid and bicuspid aortic valves with or without pathology of the ascending aorta. ⁵³ ⁶²	Koullias GJ...Elefteriades JA	15541969	2004
28	Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. ⁵³ ⁶²	Fedak PW...David TE	14502156	2003
29	Long noncoding TSI attenuates aortic valve calcification by suppressing TGF-β1-induced osteoblastic differentiation of valve interstitial cells. ⁶²	Liu Z...Dong N	36273649	2023
30	Structural abnormalities in the non-dilated ascending aortic wall of bicuspid aortic valve patients. ⁶²	Grewal N...Poelmann RE	36155835	2023
31	Bioprosthetic valve dysfunction and failure after TAVI in bicuspid aortic valve stenosis during one-year follow-up according to VARC-3. ⁶²	Veulemans V...Zeus T	35767098	2022
32	Tricuspid Aortic Valve Reconstruction with Autologous Pericardium (Ozaki Technique) in Bicuspid Aortic Valve Infective Endocarditis. ⁶²	Ramirez AD...Milano AD	36459473	2022
33	The impact of bicuspid aortic valve morphology on von Willebrand factor function in patients with severe aortic stenosis and its change after TAVI. ⁶²	Roth N...Debl K	35838799	2022
34	Isometric Exercise Increases the Diameter of the Ascending Aorta in Youth with Bicuspid Aortic Valves. ⁶²	Hartz J...Rhodes J	35768732	2022
35	Ciprofloxacin exacerbates dysfunction of smooth muscle cells in a microphysiological model of thoracic aortic aneurysm. ⁶²	Xiang B...Zhu K	36472912	2022
36	Sex-specific correlates of valvular and arterial calcification burden in patients with moderate aortic stenosis. ⁶²	Deslandes M...Clavel MA	36455993	2022
37	A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. ⁶²	Bhattarai V...Chettry S	36204404	2022
38	Anatomical and Clinical Factors Associated With Valvulopathy and Aortopathy in Mexican Patients With Bicuspid Aortic Valves. ⁶²	Avila-Vanzzini N...Michelena HI	36163051	2022
39	Thoracic and Thoracoabdominal Aneurysms: Etiology, Epidemiology, and Natural History. ⁶²	Downey RT...Aron RA	36328622	2022
40	Commentary: Use the force: Gaining mechanistic insights on aortic valve calcification using magnetic twisting cytometry. ⁶²	Svystonyuk DA...Fedak PWM	34657719	2022
41	Fate of moderate aortic regurgitation after cardiac surgery. ⁶²	Ward A...McCarthy PM	33610367	2022
42	Micromechanical force promotes aortic valvular calcification. ⁶²	Jiang Y...Dong N	34507817	2022
43	Recent lipoprotein(a) trials. ⁶²	Wei T...Cho L	36345866	2022
44	Association Between Omega-3 Fatty Acid Levels and Aortic Valve Calcium (from the Multi-Ethnic Study of Atherosclerosis). ⁶²	Pisaniello AD...Post WS	36127180	2022
45	Return to work after coronary artery bypass grafting and aortic valve replacement surgery: A scoping review. ⁶²	Mortensen M...Moi AL	34057755	2022
46	All Aortic Valve Diseases Taken Together Are Not Associated With Obesity. ⁶²	Haseefa F...Hashemzadeh M	36413398	2022
47	Time trends in the epidemiology of nonrheumatic aortic valve disease in Spain, 2003-2018. ⁶²	Rosillo N...Bueno H	35662678	2022
48	Lipoproteins and Calcific Aortic Valve Disease: Hardening Evidence? ⁶²	O'Brien KD	36134565	2022
49	Global Burden and Improvement Gap of Non-Rheumatic Calcific Aortic Valve Disease: 1990-2019 Findings from Global Burden of Disease Study 2019. ⁶²	Yang C...Yuan J	36431213	2022
50	Left ventricular remodelling in bicuspid aortic valve disease. ⁶²	Butcher SC...Delgado V	34966913	2022

Sources

Genes for Aortic Valve Disease 1

Genes related to Aortic Valve Disease 1 (8 elite genes):

(show top 50) (show all 130)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NOTCH1	Notch Receptor 1	Protein Coding	1410.54	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	16025100 16729972 27760138 (more) 18593716 26820064 16601454 17662764
2	SMAD6	SMAD Family Member 6	Protein Coding	788.54	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ ¹⁴	22275001
3	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
4	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	404.4	Pathogenic ⁵ DISEASES inferred ¹⁴
5	DSP	Desmoplakin	Protein Coding	404.17	Pathogenic ⁵ DISEASES inferred ¹⁴
6	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	400	Pathogenic ⁵
7	GATA5	GATA Binding Protein 5	Protein Coding	362.18	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ ¹⁴	24638895
8	NKX2-5	NK2 Homeobox 5	Protein Coding	361.57	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ ¹⁴	25438918
9	H19	H19 Imprinted Maternally Expressed Transcript	RNA Gene	150	Experimental evidence: Regulation ³⁷	27789555
10	ROBO4	Roundabout Guidance Receptor 4	Protein Coding	35.22	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
11	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	28.74	Likely pathogenic ⁵ DISEASES inferred ¹⁴
12	DSG1	Desmoglein 1	Protein Coding	25	Likely pathogenic ⁵
13	FBN1	Fibrillin 1	Protein Coding	22.03	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ Novoseek inferred ⁵³	17785109 14502156
14	ELN	Elastin	Protein Coding	19.14	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	15541969 17072776 14502156
15	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	15.6	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
16	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	15.14	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
17	MYH11	Myosin Heavy Chain 11	Protein Coding	14.57	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
18	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	14.26	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
19	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	13.92	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
20	HEY1	Hes Related Family BHLH Transcription Factor With YRPW Motif 1	Protein Coding	13.77	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
21	FBN2	Fibrillin 2	Protein Coding	13.72	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
22	ARHGAP31	Rho GTPase Activating Protein 31	Protein Coding	13.68	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
23	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	13.61	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
24	FLNA	Filamin A	Protein Coding	13	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
25	NOTCH2	Notch Receptor 2	Protein Coding	12.94	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
26	HEYL	Hes Related Family BHLH Transcription Factor With YRPW Motif Like	Protein Coding	12.67	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
27	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	12.66	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
28	NOTCH3	Notch Receptor 3	Protein Coding	12.58	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
29	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	12.52	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
30	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	12.5	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
31	ISL1	ISL LIM Homeobox 1	Protein Coding	12.17	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
32	PALMD	Palmdelphin	Protein Coding	11.9	DISEASES inferred ¹⁴ ¹⁴
33	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	11.87	DISEASES inferred ¹⁴ ¹⁴
34	ACE	Angiotensin I Converting Enzyme	Protein Coding	11.87	DISEASES inferred ¹⁴ ¹⁴
35	BMP2	Bone Morphogenetic Protein 2	Protein Coding	11.68	DISEASES inferred ¹⁴ ¹⁴
36	MIR486-1	MicroRNA 486-1	RNA Gene	11.58	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
37	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	11.58	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
38	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	11.57	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
39	NEURL1B	Neuralized E3 Ubiquitin Protein Ligase 1B	Protein Coding	11.56	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
40	GATA4	GATA Binding Protein 4	Protein Coding	11.53	DISEASES inferred ¹⁴ ¹⁴
41	DOCK6	Dedicator Of Cytokinesis 6	Protein Coding	11.28	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
42	MYLK	Myosin Light Chain Kinase	Protein Coding	11.02	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
43	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	10.96	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
44	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	10.94	DISEASES inferred ¹⁴ ¹⁴
45	MIR195	MicroRNA 195	RNA Gene	10.9	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
46	NPPB	Natriuretic Peptide B	Protein Coding	10.86	DISEASES inferred ¹⁴ ¹⁴
47	TEX41	Testis Expressed 41	RNA Gene	10.81	DISEASES inferred ¹⁴ ¹⁴
48	VWF	Von Willebrand Factor	Protein Coding	10.78	DISEASES inferred ¹⁴ ¹⁴
49	MIR17	MicroRNA 17	RNA Gene	10.78	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
50	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	10.76	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

⁵ (show top 50) (show all 680)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MT-ATP8	NC_012920.1:m.8420_8421insATA	INSERT	Pathogenic	626321	rs1569484208	GRCh37: MT:8418-8419 GRCh38: MT:8418-8419
2	MT-ATP6	NC_012920.1:m.8751_8752insAAA	INSERT	Pathogenic	590899	rs1569484234	GRCh37: MT:8750-8751 GRCh38: MT:8750-8751
3	NOTCH1	NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)	SNV	Pathogenic	12476	rs41309764	GRCh37: 9:139402690-139402690 GRCh38: 9:136508238-136508238
4	NOTCH1	NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)	DEL	Pathogenic	12477	rs41309766	GRCh37: 9:139399836-139399836 GRCh38: 9:136505384-136505384
5	NOTCH1	NOTCH1, PRO1797HIS	SNV	Pathogenic	635566		GRCh37: GRCh38:
6	SMAD6	NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)	SNV	Pathogenic	590966	rs1567092020	GRCh37: 15:66996366-66996366 GRCh38: 15:66704028-66704028
7	NOTCH1	NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)	SNV	Pathogenic	374271	rs1057518661	GRCh37: 9:139391843-139391843 GRCh38: 9:136497391-136497391
8	NOTCH1	NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)	SNV	Pathogenic	221998	rs1057515422	GRCh37: 9:139407501-139407501 GRCh38: 9:136513049-136513049
9	NOTCH1	NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)	SNV	Pathogenic	221997	rs1057515423	GRCh37: 9:139401304-139401304 GRCh38: 9:136506852-136506852
10	DSP	NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	SNV	Pathogenic	374137	rs1057518920	GRCh37: 6:7575619-7575619 GRCh38: 6:7575386-7575386
11	overlap with 4 genes	GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)	CN LOSS	Pathogenic	590960		GRCh37: 15:66817545-67418205 GRCh38:
12	SMAD6	NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	SNV	Pathogenic	471759	rs1246889300	GRCh37: 15:66995638-66995638 GRCh38: 15:66703300-66703300
13	NOTCH1	NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)	SNV	Pathogenic	264528	rs61755997	GRCh37: 9:139410051-139410051 GRCh38: 9:136515599-136515599
14	SOS1	NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	SNV	Pathogenic	40682	rs397517154	GRCh37: 2:39249914-39249914 GRCh38: 2:39022773-39022773
15	ROBO4	NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	SNV	Likely Pathogenic	560394	rs201393279	GRCh37: 11:124767038-124767038 GRCh38: 11:124897142-124897142
16	ROBO4	NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)	SNV	Likely Pathogenic	560395	rs138370967	GRCh37: 11:124766945-124766945 GRCh38: 11:124897049-124897049
17	ROBO4	NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)	SNV	Likely Pathogenic	560396	rs150700978	GRCh37: 11:124765793-124765793 GRCh38: 11:124895897-124895897
18	ROBO4	NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)	SNV	Likely Pathogenic	560397	rs1565326476	GRCh37: 11:124764182-124764182 GRCh38: 11:124894286-124894286
19	ROBO4	NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)	SNV	Likely Pathogenic	560398	rs201492213	GRCh37: 11:124761441-124761441 GRCh38: 11:124891545-124891545
20	ROBO4	NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)	SNV	Likely Pathogenic	560399	rs779392207	GRCh37: 11:124765748-124765748 GRCh38: 11:124895852-124895852
21	ROBO4	NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)	SNV	Likely Pathogenic	560400	rs755747435	GRCh37: 11:124765550-124765550 GRCh38: 11:124895654-124895654
22	ROBO4	NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	SNV	Likely Pathogenic	560401	rs138111911	GRCh37: 11:124761279-124761279 GRCh38: 11:124891383-124891383
23	ROBO4	NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	INDEL	Likely Pathogenic	560402	rs1565322176	GRCh37: 11:124757062-124757063 GRCh38: 11:124887166-124887167
24	ROBO4	NM_019055.6(ROBO4):c.2056+1G>T	SNV	Likely Pathogenic	560404	rs764038221	GRCh37: 11:124757628-124757628 GRCh38: 11:124887732-124887732
25	ROBO4	NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)	DEL	Likely Pathogenic	560405	rs755569942	GRCh37: 11:124761632-124761645 GRCh38: 11:124891736-124891749
26	NOTCH1	NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)	INSERT	Likely Pathogenic	973252	rs1843055667	GRCh37: 9:139399384-139399385 GRCh38: 9:136504932-136504933
27	NOTCH1	NM_017617.5(NOTCH1):c.389del (p.Pro130fs)	DEL	Likely Pathogenic	977501	rs1843413593	GRCh37: 9:139418183-139418183 GRCh38: 9:136523731-136523731
28	SMAD6	NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)	SNV	Likely Pathogenic	590965	rs900988907	GRCh37: 15:67073386-67073386 GRCh38: 15:66781048-66781048
29	NOTCH1	NM_017617.5(NOTCH1):c.3171+1_5935-1del	DEL	Likely Pathogenic	1527975		GRCh37: 9:139393712-139403321 GRCh38: 9:136499260-136508869
30	MT-ATP6	NC_012920.1:m.8950G>A	SNV	Likely Pathogenic	590268	rs1556423574	GRCh37: MT:8950-8950 GRCh38: MT:8950-8950
31	NOTCH1	NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)	DEL	Likely Pathogenic	216971	rs863224901	GRCh37: 9:139407560-139407560 GRCh38: 9:136513108-136513108
32	DSG1	NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)	SNV	Likely Pathogenic	373942	rs1057518788	GRCh37: 18:28911750-28911750 GRCh38: 18:31331787-31331787
33	TAB2	NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	SNV	Likely Pathogenic	373443	rs1057518422	GRCh37: 6:149700090-149700090 GRCh38: 6:149378954-149378954
34	SMAD6	NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)	SNV	Uncertain Significance	436796	rs80232004	GRCh37: 15:66995958-66995958 GRCh38: 15:66703620-66703620
35	PDIA2	NM_006849.4(PDIA2):c.383G>A (p.Arg128His)	SNV	Uncertain Significance	983420	rs373590123	GRCh37: 16:334570-334570 GRCh38: 16:284570-284570
36	NOTCH1	NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)	SNV	Uncertain Significance	222757	rs745901158	GRCh37: 9:139399129-139399129 GRCh38: 9:136504677-136504677
37	NOTCH1	NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr)	SNV	Uncertain Significance	155826	rs587782970	GRCh37: 9:139409148-139409148 GRCh38: 9:136514696-136514696
38	GATA5	NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)	SNV	Uncertain Significance	180368	rs145205240	GRCh37: 20:61039927-61039927 GRCh38: 20:62464871-62464871
39	NOTCH1	NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)	SNV	Uncertain Significance	523607	rs757988142	GRCh37: 9:139410520-139410520 GRCh38: 9:136516068-136516068
40	NOTCH1	NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)	SNV	Uncertain Significance	544172	rs537766290	GRCh37: 9:139417337-139417337 GRCh38: 9:136522885-136522885
41	NOTCH1	NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)	SNV	Uncertain Significance	544174	rs775991013	GRCh37: 9:139413048-139413048 GRCh38: 9:136518596-136518596
42	NOTCH1	NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)	SNV	Uncertain Significance	544175	rs763988265	GRCh37: 9:139410001-139410001 GRCh38: 9:136515549-136515549
43	NOTCH1	NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)	SNV	Uncertain Significance	544187	rs150343794	GRCh37: 9:139400299-139400299 GRCh38: 9:136505847-136505847
44	NOTCH1	NM_017617.5(NOTCH1):c.2207+5G>A	SNV	Uncertain Significance	544190	rs1214619547	GRCh37: 9:139408957-139408957 GRCh38: 9:136514505-136514505
45	NOTCH1	NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)	SNV	Uncertain Significance	546117	rs531420022	GRCh37: 9:139402747-139402747 GRCh38: 9:136508295-136508295
46	NOTCH1	NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp)	SNV	Uncertain Significance	477942	rs1356199208	GRCh37: 9:139396824-139396824 GRCh38: 9:136502372-136502372
47	NOTCH1	NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)	SNV	Uncertain Significance	453137	rs1020747496	GRCh37: 9:139391296-139391296 GRCh38: 9:136496844-136496844
48	NOTCH1	NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)	SNV	Uncertain Significance	452700	rs777684045	GRCh37: 9:139402576-139402576 GRCh38: 9:136508124-136508124
49	NOTCH1	NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)	SNV	Uncertain Significance	451861	rs1037236860	GRCh37: 9:139412639-139412639 GRCh38: 9:136518187-136518187
50	NOTCH1	NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)	SNV	Uncertain Significance	451661	rs774374213	GRCh37: 9:139399777-139399777 GRCh38: 9:136505325-136505325

Sources

Expression for Aortic Valve Disease 1

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

Sources

Pathways for Aortic Valve Disease 1

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

(show all 19)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.65	ACTA2 DSP EFEMP2 ELN FBN1 MYH11
2	Signal Transduction ⁶⁶	12.81	TAB2 SOS1 SMAD6 NOTCH1 MYH11 JAG1
3	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.62	TAB2 NKX2-5 GATA5 DSP ACTA2
4	Pre-NOTCH Expression and Processing ⁶⁶ Show member pathways Defective LFNG causes SCDO3 ⁶⁶ Pre-NOTCH Processing in Golgi ⁶⁶ Pre-NOTCH Processing in the Endoplasmic Reticulum ⁶⁶ Pre-NOTCH Transcription and Translation ⁶⁶ Signaling by NOTCH ⁶⁶	12.6	NOTCH1 JAG1 HEY2 HEY1 ACTA2
5	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.2	SOS1 SMAD6 NOTCH1 HEY2 HEY1
6	Wnt / Hedgehog / Notch ³	12.04	TAB2 NOTCH1 NKX2-5 JAG1
7	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	11.96	DSP JAG1 NOTCH1 SOS1
8	Development Notch Signaling Pathway ²² Show member pathways Development NOTCH1-mediated pathway for NF-KB activity modulation ²²	11.78	NOTCH1 JAG1 HEY2 HEY1
9	Notch Signaling Pathways ⁶⁵	11.74	NOTCH1 JAG1 HEY1
10	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.64	FBN1 ELN EFEMP2
11	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.47	SMAD6 HEY2 HEY1
12	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.43	NOTCH1 JAG1 HEY1
13	Signaling by NOTCH3 ⁶⁶ Show member pathways NOTCH3 Intracellular Domain Regulates Transcription ⁶⁶	11.43	HEY1 HEY2 JAG1 NOTCH1
14	Notch-mediated HES/HEY network ⁶¹	11.26	NOTCH1 HEY2 HEY1
15	Osteoblast differentiation and related diseases ⁷⁴	11.26	NOTCH1 JAG1 HEY2 HEY1
16	Canonical and non-canonical Notch signaling ⁷⁴	10.93	NOTCH1 JAG1 HEY1
17	Heart development ⁷⁴	10.93	NOTCH1 NKX2-5 HEY2 HEY1
18	Amplification and expansion of oncogenic pathways as metastatic traits ⁷⁴	10.79	NOTCH1 JAG1
19	NOTCH1 regulation of endothelial cell calcification ⁷⁴	10.75	NOTCH1 JAG1

Sources

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	elastic fiber	GO:0071953	8.92	ELN EFEMP2

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

(show all 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	10.35	NOTCH1 NKX2-5 HEY2 HEY1 GATA5 ACTA2
2	Notch signaling pathway	GO:0007219	10.22	NOTCH1 JAG1 HEY2 HEY1
3	keratinocyte differentiation	GO:0030216	10.15	NOTCH1 JAG1 DSP
4	heart development	GO:0007507	10.11	TAB2 NOTCH1 NKX2-5 HEY2 GATA5 FBN1
5	negative regulation of neuron differentiation	GO:0045665	10.07	NOTCH1 JAG1 HEY1
6	regulation of neurogenesis	GO:0050767	10.03	NOTCH1 HEY2 HEY1
7	cardiac muscle cell proliferation	GO:0060038	10.03	HEY2 NKX2-5 NOTCH1
8	outflow tract morphogenesis	GO:0003151	10.02	NOTCH1 NKX2-5 HEY2 ELN
9	cardiac conduction system development	GO:0003161	10.01	NKX2-5 HEY2 HEY1
10	ventricular septum morphogenesis	GO:0060412	10.01	HEY1 HEY2 NKX2-5 NOTCH1
11	heart trabecula formation	GO:0060347	10	NKX2-5 HEY2 HEY1
12	ventricular trabecula myocardium morphogenesis	GO:0003222	9.99	HEY2 NKX2-5 NOTCH1
13	vascular associated smooth muscle cell development	GO:0097084	9.98	HEY2 EFEMP2
14	cardiac left ventricle morphogenesis	GO:0003214	9.98	NOTCH1 HEY2
15	neuroendocrine cell differentiation	GO:0061101	9.97	NOTCH1 JAG1
16	dorsal aorta morphogenesis	GO:0035912	9.97	HEY1 HEY2
17	cardiac epithelial to mesenchymal transition	GO:0060317	9.97	HEY1 HEY2 NOTCH1
18	ventricular cardiac muscle cell development	GO:0055015	9.96	HEY2 NKX2-5
19	heart trabecula morphogenesis	GO:0061384	9.96	SOS1 NOTCH1
20	pericardium morphogenesis	GO:0003344	9.95	SOS1 NOTCH1
21	atrioventricular node development	GO:0003162	9.95	NKX2-5 NOTCH1
22	mesenchymal cell development	GO:0014031	9.94	HEY2 NOTCH1
23	pulmonary artery morphogenesis	GO:0061156	9.94	HEY2 JAG1
24	cardiac atrium morphogenesis	GO:0003209	9.93	SOS1 NOTCH1
25	inhibition of neuroepithelial cell differentiation	GO:0002085	9.92	NOTCH1 JAG1
26	cardiac septum morphogenesis	GO:0060411	9.92	NOTCH1 JAG1 HEY2 HEY1
27	glomerular mesangial cell development	GO:0072144	9.91	ACTA2 NOTCH1
28	regulation of vasculogenesis	GO:2001212	9.91	HEY2 HEY1
29	negative regulation of biomineral tissue development	GO:0070168	9.91	NOTCH1 HEY2 HEY1
30	negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	GO:2000820	9.9	HEY2 HEY1
31	distal tubule development	GO:0072017	9.89	NOTCH1 JAG1
32	positive regulation of cardiac epithelial to mesenchymal transition	GO:0062043	9.88	NOTCH1 JAG1
33	cardiac vascular smooth muscle cell development	GO:0060948	9.88	NOTCH1 HEY2
34	Notch signaling involved in heart development	GO:0061314	9.86	NOTCH1 JAG1 HEY2 HEY1
35	umbilical cord morphogenesis	GO:0036304	9.85	HEY2 HEY1
36	arterial endothelial cell differentiation	GO:0060842	9.85	NOTCH1 HEY2 HEY1
37	regulation of inner ear auditory receptor cell differentiation	GO:0045607	9.74	NOTCH1 HEY2
38	cardiac ventricle morphogenesis	GO:0003208	9.7	HEY1 HEY2 NKX2-5 NOTCH1
39	pulmonary valve morphogenesis	GO:0003184	9.65	SMAD6 NOTCH1 JAG1 HEY2 HEY1
40	aortic valve morphogenesis	GO:0003180	9.53	SMAD6 NOTCH1 NKX2-5 JAG1 HEY2 HEY1