Aortic Valve Disease 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AOVD2 MCID: ART101 MIFTS: 71	Aortic Valve Disease 2 (AOVD2) 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 2

MalaCards integrated aliases for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ⁷¹

Aortic Valve Stenosis ⁵⁷ ¹¹ ¹⁹ ⁷⁵ ⁷³ ⁵ ⁴³ ¹⁴ ⁷¹ ³³

Aortic Stenosis ¹¹ ¹⁹ ⁵³ ¹⁴ ³⁸ ¹⁶ ⁷⁵

Rheumatic Aortic Stenosis ¹¹ ⁷¹ ³¹

Rheumatic Aortic Valve Stenosis ¹¹ ³³

Valvular Aortic Stenosis ¹⁹ ³³

Bicuspid Aortic Valve ⁵⁷ ⁷³

Aovd2 ⁵⁷ ⁷³

Rheumatic Aortic Valve Stenosis with Insufficiency ³³

Rheumatic Aortic Stenosis with Regurgitation ³³

Rheumatic Aortic Stenosis with Incompetence ³³

Rheumatic Aortic Valve Obstruction ³³

Aortic Insufficiency with Stenosis ³³

Aortic Valve Disease, Type 2 ³⁸

Rheumatic Aortic Obstruction ³³

Rheumatic Aortic Stricture ³³

Aortic Valve Regurgitation ³³

Aortic Valve Obstruction ³³

Aortic Valve Stricture ³³

Obstructed Aorta Valve ³³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of aortic and mitral valves

Congenital stenosis of aortic valve

Congenital malformations of great arteries

Coarctation of aorta

Diseases of the circulatory system

Chronic rheumatic heart diseases

Rheumatic aortic valve diseases

Rheumatic aortic stenosis

Rheumatic aortic stenosis with insufficiency

Other forms of heart disease

Nonrheumatic aortic valve disorders

Aortic (valve) stenosis

Aortic (valve) stenosis with insufficiency

ICD11: ³³

Diseases of the circulatory system

Heart valve diseases

Aortic valve disease

Aortic valve stenosis

Aortic valve stenosis, unspecified

Other specified aortic valve stenosis

Rheumatic aortic valve stenosis

Aortic valve stenosis with insufficiency

Aortic valve stenosis with insufficiency, unspecified

Rheumatic aortic stenosis with insufficiency

External Ids:

Disease Ontology ¹¹ DOID:0080334 DOID:1712

OMIM® ⁵⁷ 614823

OMIM Phenotypic Series ⁵⁷ PS109730

ICD9CM ³⁴ 395.0 746.3

MeSH ⁴³ D001024

NCIt ⁴⁹ C50462

SNOMED-CT ⁶⁸ 155282009 18546004 60573004

ICD10 ³¹ I06.0 I06.2 I35.0 more

MedGen ⁴⁰ C3542024

SNOMED-CT via HPO ⁶⁹ 67362008 72352009 7305005

EFO ¹⁶ EFO_0000266

ICD11 ³³ 145623962 424187633 685855644 more

UMLS ⁷¹ C0003507 C0152417 C0155567 more

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Summaries for Aortic Valve Disease 2

GARD: ¹⁹ Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.

MalaCards based summary: Aortic Valve Disease 2, also known as aortic valve stenosis, is related to holt-oram syndrome and aortic aneurysm. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Desflurane and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and kidney, and related phenotypes are bicuspid aortic valve and coarctation of aorta

OMIM®: ⁵⁷ Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730). (614823) (Updated 08-Dec-2022)

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 2: A bicuspid aortic valve disease that has material basis in heterozygous mutation in the SMAD6 gene on chromosome 15q22.

Aortic valve stenosis: An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.

Wikipedia: ⁷⁵ Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the... more...

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Related Diseases for Aortic Valve Disease 2

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

(show top 50) (show all 929)

#	Related Disease	Score	Top Affiliating Genes
1	holt-oram syndrome	32.6	TBX5 NPPA MYH7
2	aortic aneurysm	32.3	SPP1 MIR29B1 MIR21 MIR195 MIR126 ELN
3	aortic valve disease 1	32.2	TBX5 SPP1 SMAD6 NPPB MIR423 MIR29B1
4	aortic aneurysm, familial thoracic 1	32.0	TBX5 SPP1 SMAD6 MYH7 MIR29B1 MIR21
5	heart septal defect	31.8	TBX5 NPPB NPPA MYH7 MIR423 MIR199A1
6	ventricular septal defect	31.8	TBX5 NPPB NPPA MIR423 MIR199A1
7	patent ductus arteriosus 1	31.6	TBX5 NPPB MYH7 ELN
8	orthostatic intolerance	31.6	TBX5 PDLIM1 MIR423 ELN
9	aortic disease	31.5	SPP1 NPPB MIR423 MIR34A MIR29B1 MIR21
10	mitral valve insufficiency	31.5	TBX5 NPPB NPPA MYH7 MIR423 ELN
11	endocardial fibroelastosis	31.5	NPPB MYH7 ELN
12	pulmonary hypertension	31.4	SPP1 NPPB NPPA MIR21 ELN BMP2
13	cardiogenic shock	31.3	NPPB NPPA
14	atrial heart septal defect	31.3	TBX5 NPPB NPPA MYH7 ELN
15	patent foramen ovale	31.3	TBX5 NPPB NPPA MYH7 ELN
16	transposition of the great arteries, dextro-looped	31.3	TBX5 NPPB MIR423 BMP2
17	hypoplastic left heart syndrome	31.2	TBX5 SMAD6 NPPB NPPA MYH7 ELN
18	tetralogy of fallot	31.2	TBX5 NPPB NPPA MYH7 MIR423 ELN
19	mitral valve disease	31.1	NPPB NPPA MYH7 MIR423 MIR21 ELN
20	connective tissue disease	31.1	TNFSF11 SPP1 MIR423 MIR34A MIR29B1 MIR21
21	hypertrophic cardiomyopathy	31.1	TBX5 NPPB NPPA MYL4 MYH7 MIR423
22	hypertension, essential	31.0	SPP1 NPPB NPPA MIR423 MIR34A MIR21
23	ebstein anomaly	31.0	TBX5 NPPB MYH7
24	hypertensive heart disease	31.0	NPPB NPPA MYH7
25	chronic kidney disease	30.9	TNFSF11 SPP1 NPPB NPPA MIR21 MIR126
26	peripheral artery disease	30.9	NPPB MIR423 MIR21 MIR199A1 MIR126
27	pulmonary disease, chronic obstructive	30.9	NPPB MIR21 MIR199A1 MIR126 ELN
28	heart valve disease	30.9	NPPB NPPA MYH7 MIR423 MIR34A MIR29B1
29	arteriosclerosis	30.9	SPP1 MIR21 MIR199A1 MIR126 ELN
30	cerebrovascular disease	30.8	MIR423 MIR29B1 MIR21 MIR199A1 MIR126
31	aortic aneurysm, familial abdominal, 1	30.8	SPP1 MIR21 MIR199A1 MIR195 MIR126 ELN
32	lipoprotein quantitative trait locus	30.8	TBX5 NPPB NPPA MYH7 MIR423 MIR34A
33	kidney disease	30.8	TNFSF11 SPP1 NPPB NPPA MIR21 MIR199A1
34	wolff-parkinson-white syndrome	30.8	TBX5 NPPB MYH7 BMP2
35	systolic heart failure	30.7	NPPB MYH7 MIR423
36	arteries, anomalies of	30.7	MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195
37	tricuspid valve disease	30.7	TBX5 NPPB MYH7
38	intermediate coronary syndrome	30.7	NPPB MIR423 MIR21 MIR126
39	lung disease	30.7	NPPB MIR21 MIR199A1 MIR126 ELN
40	dilated cardiomyopathy	30.7	TBX5 SPP1 NPPB NPPA MYL4 MYH7
41	atrial fibrillation	30.6	TBX5 NPPB NPPA MYL4 MIR21 MIR199A1
42	brittle bone disorder	30.6	TNFSF11 SPP1 ELN BMP2
43	arthropathy	30.6	TNFSF11 HGD BMP2
44	cardiovascular system disease	30.6	NPPB NPPA MIR423 MIR34A MIR29B1 MIR21
45	leukemia, chronic lymphocytic	30.6	MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195
46	heart disease	30.6	TBX5 SMAD6 NPPB NPPA MYL4 MYH7
47	myocarditis	30.5	SPP1 NPPB NPPA MYH7
48	respiratory failure	30.5	NPPB MYH7 MIR21 MIR199A1 MIR126
49	diabetes mellitus	30.5	TNFSF11 SPP1 NPPB NPPA MIR34A MIR21
50	myeloma, multiple	30.5	TNFSF11 SPP1 MIR21 MIR199A1 MIR126

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

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

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

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Symptoms & Phenotypes for Aortic Valve Disease 2

Human phenotypes related to Aortic Valve Disease 2:

³⁰

#	Description	HPO Source Accession
1	bicuspid aortic valve ³⁰	HP:0001647
2	coarctation of aorta ³⁰	HP:0001680
3	aortic aneurysm ³⁰	HP:0004942
4	calcification of the aorta ³⁰	HP:0004963

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
bicuspid aortic valve
stenosis of aortic valve

Cardiovascular Vascular:
aortic aneurysm
calcification of the aorta
coarctation of the aorta

Clinical features from OMIM®:

614823 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.56	ELN MYH7 NPPA NPPB SMAD6 SPP1
2	homeostasis/metabolism	MP:0005376	9.47	BMP2 CNMD ELN HGD MIR126 MIR34A

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Drugs & Therapeutics for Aortic Valve Disease 2

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

(show top 50) (show all 267)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Desflurane

Approved

Phase 4

57041-67-5

42113

Trandolapril

Approved

Phase 4

87679-37-6

5484727

Captopril

Approved

Phase 4

62571-86-2

44093

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

581 12035

Sufentanil

Approved, Investigational

Phase 4

56030-54-7

41693

Remifentanil

Approved

Phase 4

132875-61-7

60815

Sodium citrate

Approved, Investigational

Phase 4

68-04-2

23431961

Sildenafil

Approved, Investigational

Phase 4

139755-83-2, 171599-83-0

5212 135398744

Amlodipine

Approved

Phase 4

88150-42-9

2162

Chlorthalidone

Approved

Phase 4

77-36-1

2732

Ticagrelor

Approved

Phase 4

274693-27-5

9871419

Dapagliflozin

Approved

Phase 4

461432-26-8

9887712

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

Iron isomaltoside 1000

Approved, Investigational

Phase 4

1370654-58-2

Mecobalamin

Approved, Investigational

Phase 4

13422-55-4

Hydroxocobalamin

Approved

Phase 4

13422-51-0

15589840 44475014

Iron

Approved

Phase 4

7439-89-6

29936

Dobutamine

Approved

Phase 4

34368-04-2

36811

Atorvastatin

Approved

Phase 4

134523-00-5

60823

Heparin, bovine

Approved, Investigational, Withdrawn

Phase 4

9005-49-6

22833565 9812414 772

Bisoprolol

Approved

Phase 4

66722-44-9

2405

Tadalafil

Approved, Investigational

Phase 4

171596-29-5

110635

Glutamic acid

Approved, Nutraceutical

Phase 4

56-86-0

33032

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

Menadione

Approved, Nutraceutical

Phase 4

58-27-5

4055

Cyanocobalamin

Approved, Nutraceutical

Phase 4

68-19-9

24892734 16212801 44176380

Menaquinone

Investigational

Phase 4

1182-68-9

Simendan

Investigational

Phase 4

131741-08-7

Cobalamin

Experimental

Phase 4

13408-78-1

6857388

Anesthetics, Inhalation

Phase 4

Angiotensin-Converting Enzyme Inhibitors

Phase 4

Hormones

Phase 4

Coagulants

Phase 4

N-monoacetylcystine

Phase 4

Anesthetics, General

Phase 4

Dsuvia

Phase 4

Anesthetics, Intravenous

Phase 4

Analgesics, Opioid

Phase 4

Narcotics

Phase 4

Arginine Vasopressin

Phase 4

Vasopressins

Phase 4

Deamino Arginine Vasopressin

Phase 4

diuretics

Phase 4

Citrate

Phase 4

calcium channel blockers

Phase 4

Sodium Chloride Symporter Inhibitors

Phase 4

Sodium-Glucose Transporter 2 Inhibitors

Phase 4

Interventional clinical trials:

(show top 50) (show all 770)

#	Name	Status	NCT ID	Phase	Drugs
1	Frailty and Cognitive Function Assessment of TAVI Patients (The Hungarian Frailty Score) - Observational, Prospective, Singe Center Study	Unknown status	NCT02650388	Phase 4
2	Desflurane-induced Myocardial Protection in Aortic Valve Surgery: A Pilot Study	Unknown status	NCT02019797	Phase 4	Desflurane
3	Comparison of Safety and Efficacy of Percutaneous Balloon Aortic Valvuloplasty Performed With or Without Rapid Ventricular Pacing - The Pacing vs No Pacing Study (PNP Study)	Unknown status	NCT02498639	Phase 4
4	Effects of the Administration Of Antithrombin on the Coagulation Status and on the Inflammatory Response in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery	Unknown status	NCT01201070	Phase 4	antithrombin III
5	Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression, Severity, Symptoms and Left Ventricular Function Assessed by 2D Strain Echocardiography	Unknown status	NCT02060071	Phase 4
6	Randomized Trial of Aspirin Versus Rivaroxaban After Replacement of the Aortic Valve With a Biological Valve Prosthesis	Unknown status	NCT02974920	Phase 4	Rivaroxaban 10 MG;Aspirin
7	Acute Haemodynamic Effects of Treatment With ACE-Inhibitors in Patients With Symptomatic Aortic Stenosis (ACCESS)	Unknown status	NCT00252317	Phase 4	Captopril and Trandolapril;Captopril Test Dose and Trandolapril
8	Safety and Efficacy of Angiotensin Receptor Blocker, Fimasartan, on Patients With Aortic Stenosis	Unknown status	NCT01589380	Phase 4	Fimasartan;Placebo
9	Reducing Acute Kidney Injury in TAVI Patients (REDUCE Trial)	Completed	NCT01866800	Phase 4	Conventional Treatment
10	Use of Protamine Sulfate During Transcatheter Aortic Valve Implantation - Impact on Bleeding and Thromboembolic Complications	Completed	NCT02974660	Phase 4	Protamine sulfate;0.9% NaCl
11	Aortic Valve Replacement Using Closed Extracorporeal Circuit. Minimized Versus Conventional Extracorporeal Circulation Technique: Qualitative Differences	Completed	NCT02308566	Phase 4
12	Randomized Control Study of Anticoagulation With Warfarin Por Patients With Aortic Bioprosthesis vs Aspirin Only	Completed	NCT03807921	Phase 4	Warfarin;Aspirin
13	a Multicenter, Randomized, Open-label, Active-treatment, Controlled Trial to Compare the Efficacy of NOAC With Edoxaban vs. Dual Antiplatelet Therapy (DAPT) for Prevention of Leaflet Thrombosis (Documented by Cardiac CT Imaging) and Cerebral Embolization (Documented With Brain DW-MRI Imaging) in Patients Without an Absolute Indication for Chronic OAC After Successful TAVR	Completed	NCT03284827	Phase 4	NOAC;DAPT
14	PHASE IV Study of Dual Antiplatelet Therapy Versus Oral Anticoagulation for a Short Time to Prevent Cerebral Embolism After Percutaneous Aortic Valve Implantation. Multicenter Randomized Clinical Trial	Completed	NCT01642134	Phase 4	aspirin+clopidogrel (Duoplavin)
15	Left Ventricular Regression European Study	Completed	NCT00256165	Phase 4
16	Assessment of Platelet REACtivity After Transcatheter Aortic Valve Implantation	Completed	NCT02224066	Phase 4	Ticagrelor 90 mg twice per day during three months following TAVI;Aspirin 100 mg plus Clopidogrel 75 mg daily during three months following TAVI
17	REACTIC-TAVI Trial: Platelet REACtivity According to TICagrelor Dose After Transcatheter AorticValve Implantation. A Pilot Study.	Completed	NCT04331145	Phase 4	Ticagrelor 60mg
18	Fast-track in Cardiac Surgery. Remifentanyl & Sufentanil Anaesthesia for CABG+/-AVR Evaluated by Recovery, Cognitive Dysfunction, Haemodynamics (PAC/TTE) and Cardiac Biochemical Markers (CKMB, TNT, Pro-BNP)	Completed	NCT02053818	Phase 4	Remifentanil;Sufentanil
19	Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery	Completed	NCT01994330	Phase 4	desmopressin
20	Glutamate Infusion in Hypertrophied Ventricle After Aortic Valve Replacement - a Randomized Trial	Completed	NCT01144039	Phase 4	LG-group;HG-group;Placebo-group
21	Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis	Completed	NCT01060020	Phase 4	Sildenafil
22	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
23	Inflammation and Thrombosis in Patients With Severe Aortic Stenosis After Transcatheter Aortic Valve Replacement (TAVR)	Completed	NCT02486367	Phase 4	Clopidogrel;Ticagrelor
24	Single Antiplatelet Treatment With Ticagrelor or Aspirin After Transcatheter Aortic Valve Implantation: Multicenter Randomized Clinical Trial	Recruiting	NCT05283356	Phase 4	Ticagrelor 60mg
25	A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Effectiveness and Safety of Levosimendan in Patients With Severe Aortic Stenosis and Heart Failure Undergoing Transcatheter Aortic Valve Replacement	Recruiting	NCT04573049	Phase 4	Levosimendan
26	A Phase IV Double-blind, Randomised, Parallel Group Comparison of the Efficacy and Safety of Preoperative Intravenous Ferric Carboxymaltose and Placebo in the Treatment of Patients Undergoing Elective or Urgent Cardiac Surgery	Recruiting	NCT03574311	Phase 4	Ferric carboxymaltose
27	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
28	Effect of Preoperative Iron Isomaltoside 1000 Administration on Hemoglobin Concentration in Patients Undergoing Transcatheter Aortic Valve Implantation: a Randomized Clinical Trial	Recruiting	NCT04346004	Phase 4	Normal saline;Iron isomaltoside
29	Dapagliflozin After Transcatheter Aortic Valve Implantation	Recruiting	NCT04696185	Phase 4	Dapagliflozin 10 MG
30	Impact of Angiotensin Receptor Blockers in Aortic Stenosis - a Randomized Controlled Trial	Recruiting	NCT04913870	Phase 4	Angiotensin Receptor Blockers
31	Randomized Bilnded Controlled Trial Comparing The Effect of IV Sodium Ferric Gluconate Complex (FERRLECIT R) on Outcome of Patients Undergoing Transcatheter Aortic Valve Implantation (TAVI)	Recruiting	NCT04797832	Phase 4	IV Sodium Ferric Gluconate Complex
32	THE TORCH TRIAL：Transcatheter Aortic Valve Replacement Single Center Registry in Chinese Population	Recruiting	NCT02803294	Phase 4
33	A Randomized Clinical Trial of Intravenous Iron Supplementation in TAVI and SAVR Patients With Iron Deficiency	Not yet recruiting	NCT04786769	Phase 4	Ferric carboxymaltose
34	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
35	The Effects of Dobutamine on Postoperative Systolic Deformation and Diastolic Function in Patients With Hypertrophic Cardiomyopathy Operated for Aortic Valve Stenosis	Suspended	NCT01375335	Phase 4	Dobutamine
36	Double Blind Randomized Phase IV Clinical Trial to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in the Haemodynamic Progression of Degenerative Aortic Stenosis. The AORTICA 1 Study.	Terminated	NCT00404287	Phase 4	Fluvastatin
37	The Effect of Statin Therapy (Atorvastatin) on the Progression of Calcific Valvular Aortic Stenosis	Terminated	NCT00590135	Phase 4	atorvastatin (Lipitor)
38	A Randomized Trial of Beta-blocker Therapy in Aortic Stenosis	Terminated	NCT01579058	Phase 4	bisoprolol;placebo
39	Balloon Aortic Valvuloplasty Performed Without Heparin to Decrease Vascular and Bleeding Complications of the Procedure	Terminated	NCT01823393	Phase 4	Heparin;NaCl
40	Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study	Terminated	NCT01272388	Phase 4	Tadalafil;Placebo
41	Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study	Terminated	NCT01275339	Phase 4	Tadalafil;Placebo
42	Prospective, Open Label, Multicenter, Dual Arm, Randomized Trial of TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis	Withdrawn	NCT02838199	Phase 4
43	Interest of Statin in Surgical Aortic Stenosis: From Myocardial Preconditioning to Ventricular Reverse Remodeling.	Unknown status	NCT00811330	Phase 3	Atorvastatin 80 mg
44	The Potential of Candesartan to Retard the Progression of Aortic Stenosis Influences of Medical Therapy to the Atheroinflammatory Process in Stenotic Aortic Valves	Unknown status	NCT00699452	Phase 3	candesartan;placebo
45	Dual AntiPlatelet Therapies for Prevention of Periinterventional Embolic Events in Transcatheter Aortic Valve Implantation (TAVI)	Unknown status	NCT03001960	Phase 3	Preloading before TAVI;Postloading after TAVI
46	LOTUS-CHINA: Safety and Efficacy of Lotus Valve For Transcatheter Aortic Valve Implantation In Patients With Severe Aortic Stenosis In Chinese Population	Unknown status	NCT02536703	Phase 3
47	Left Ventricular Reverse Remodelling After Aortic Valve Replacement in Severe Valvular Aortic Stenosis - Effect of Blockade of the Angiotensin-II Receptor	Unknown status	NCT00294775	Phase 3	Candesartan
48	Value of Oral Phytate (InsP6) in the Prevention of Progression of the Cardiovascular Calcifications	Unknown status	NCT01000233	Phase 2, Phase 3
49	A Prospective, Multicentre, Randomized, Open Label, Blinded Endpoint, Phase 3 Trial to Assess the Safety and Efficacy of Prophylactic TicagrelOr With Acetylsalicylic Acid Versus CLopidogrel With Acetylsalicylic Acid in the Development of Cerebrovascular EMbolic Events During Transcatheter Aortic Valve Implantation (TAVI) OperationS - the PTOLEMAIOS Study.	Completed	NCT02989558	Phase 3	Ticagrelor plus ASA;Clopidogrel plus ASA
50	Safety Profile Evaluation of TICagrelor Alone Compared to a Combination of Lysine Acetylsalicylate-Clopidogrel in the Context of Transcatheter Aortic Valve Implantation (TAVI)	Completed	NCT02817789	Phase 3	Ticagrelor alone;Combination lysine acetylsalicylate - clopidogrel

Search NIH Clinical Center for Aortic Valve Disease 2

Cochrane evidence based reviews: aortic valve stenosis

Sources

Genetic Tests for Aortic Valve Disease 2

Genetic tests related to Aortic Valve Disease 2:

#	Genetic test	Affiliating Genes
1	Aortic Valve Disease 2 ²⁸	SMAD6

Sources

Anatomical Context for Aortic Valve Disease 2

Organs/tissues related to Aortic Valve Disease 2:

MalaCards : Heart, Endothelial, Kidney, Brain, Lung, Myeloid, Smooth Muscle

ODiseA: Heart-Atrium, Heart-Ventricle, Heart

Sources

Publications for Aortic Valve Disease 2

Articles related to Aortic Valve Disease 2:

(show top 50) (show all 25800)

#	Title	Authors	PMID	Year
1	Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. ⁶² ⁵⁷ ⁵	Luyckx I...Verstraeten A	30796334	2019
2	A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. ⁶² ⁵⁷ ⁵	Park JE...Kim DK	30848080	2019
3	Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. ⁵⁷ ⁵	Tan HL...Keavney BD	22275001	2012
4	Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. ⁵	Vanlerberghe C...Petit F	30552424	2019
5	Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. ⁵	Newman S...Rudd MK	25640679	2015
6	Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. ⁵	Baban A...Pongiglione G	25263169	2014
7	Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. ⁵	Baban A...Albanese S	24664498	2014
8	Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. ⁵	Boogerd CJ...Postma AV	20519243	2010
9	Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. ⁵	Porto MP...Perez AB	21637475	2010
10	Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. ⁵	Fan C...Wang QK	19648116	2009
11	Novel TBX5 mutations in patients with Holt-Oram syndrome. ⁵	Debeer P...Frijns JP	17534187	2007
12	Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. ⁵	Buratti E...Vorechovsky I	17576681	2007
13	Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. ⁵	Borozdin W...Kohlhase J	16917909	2006
14	TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. ⁵	McDermott DA...Basson CT	16183809	2005
15	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
16	Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. ⁵	Brassington AM...Bamshad MJ	12789647	2003
17	Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. ⁵	Fan C...Wang Q	12499378	2003
18	Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. ⁵	Ghosh TK...Brook JD	11555635	2001
19	Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. ⁵	Basson CT...Seidman CE	10077612	1999
20	Statistical features of human exons and their flanking regions. ⁵	Zhang MQ	9536098	1998
21	Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. ⁵	Li QY...Brook JD	8988164	1997
22	Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. ⁵	Basson CT...Seidman CE	8988165	1997
23	Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome. ⁵³ ⁶²	Morris CA...Gregg RG	20425789	2010
24	Treadmill exercise in apparently asymptomatic patients with moderate or severe aortic stenosis: relationship between cardiac index and revealed symptoms. ⁵³ ⁶²	Rajani R...Chambers JB	20424150	2010
25	Heart failure-associated changes in RNA splicing of sarcomere genes. ⁵³ ⁶²	Kong SW...Pu WT	20124440	2010
26	B-type natriuretic peptide and tissue doppler for predicting symptoms on treadmill exercise in apparently asymptomatic aortic stenosis. ⁵³ ⁶²	Rajani R...Chambers J	20099699	2009
27	Effect of balloon valvuloplasty in patients with severe aortic stenosis on levels of N-terminal pro-B-type natriuretic peptide. ⁵³ ⁶²	Spargias K...Cokkinos DV	19733722	2009
28	New understanding about brain natriuretic peptide and exercise testing in asymptomatic severe aortic stenosis. ⁵³ ⁶²	Moura LM	20099698	2009
29	Correlation between plasma osteopontin levels and aortic valve calcification: potential insights into the pathogenesis of aortic valve calcification and stenosis. ⁵³ ⁶²	Yu PJ...Grau JB	19577079	2009
30	Usefulness of serial brain natriuretic peptide measurements for managing aortic valve stenosis in pregnancy. ⁵³ ⁶²	Patel S...Choi JW	19633743	2009
31	Natriuretic peptides in the management of aortic stenosis. ⁵³ ⁶²	Bergler-Klein J	19236823	2009
32	Molecular mechanisms underlying the onset of degenerative aortic valve disease. ⁵³ ⁶²	Hakuno D...Fukuda K	18766323	2009
33	Brain natriuretic peptide as a marker of left ventricular hypertrophy in patients with aortic stenosis. ⁵³ ⁶²	Orlowska-Baranowska E...Stepinska J	19137789	2008
34	Induction by left ventricular overload and left ventricular failure of the human Jumonji gene (JARID2) encoding a protein that regulates transcription and reexpression of a protective fetal program. ⁵³ ⁶²	Bovill E...Shaw T	18805276	2008
35	Comparison of brain natriuretic peptide plasma levels versus logistic EuroSCORE in predicting in-hospital and late postoperative mortality in patients undergoing aortic valve replacement for symptomatic aortic stenosis. ⁵³ ⁶²	Pedrazzini GB...Auricchio A	18774001	2008
36	Heart failure in patients with aortic stenosis: clinical and prognostic significance of carbohydrate antigen 125 and brain natriuretic peptide measurement. ⁵³ ⁶²	Antonini-Canterin F...Nicolosi GL	17662495	2008
37	Increased B-type natriuretic peptide is associated with an abnormal blood pressure response to exercise in asymptomatic aortic stenosis. ⁵³ ⁶²	Van Pelt NC...Stewart RA	18077013	2008
38	Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. ⁵³ ⁶²	Pober BR...Morris CA	17639596	2007
39	Natriuretic peptides and myocardial oxygen supply-to-demand ratio in patients with aortic stenosis. ⁵³ ⁶²	Wagner JA...Voelker W	17537153	2007
40	Longitudinal left ventricular contractile dysfunction after exercise in aortic stenosis. ⁵³ ⁶²	Van Pelt NC...Kerr AJ	17090563	2007
41	B-type natriuretic peptide in low-flow, low-gradient aortic stenosis: relationship to hemodynamics and clinical outcome: results from the Multicenter Truly or Pseudo-Severe Aortic Stenosis (TOPAS) study. ⁵³ ⁶²	Bergler-Klein J...Baumgartner H	17515464	2007
42	Increased circulating concentrations and augmented myocardial extraction of osteoprotegerin in heart failure due to left ventricular pressure overload. ⁵³ ⁶²	Helske S...Kupari M	17254844	2007
43	Fetal aortic stenosis and changes in amniotic fluid natriuretic peptides. ⁵³ ⁶²	Lubbers WC...Eghtesady P	17346543	2007
44	Distribution of SPARC during neovascularisation of degenerative aortic stenosis. ⁵³ ⁶²	Charest A...Mathieu P	16709694	2006
45	[Gene polymorphisms leading to calcified and stenotic aortic valves]. ⁵³ ⁶²	Anger T...Garlichs CD	17072776	2006
46	The effect of aortic valve replacement on plasma B-type natriuretic peptide in patients with severe aortic stenosis--one year follow-up. ⁵³ ⁶²	Neverdal NO...Tonnessen T	16466963	2006
47	Atrial natriuretic peptide predicts impaired atrial remodeling and occurrence of late postoperative atrial fibrillation after surgery for symptomatic aortic stenosis. ⁵³ ⁶²	Yilmaz MB...Korkmaz S	16498244	2006
48	Transcardiac gradients of N-terminal B-type natriuretic peptide in aortic valve stenosis. ⁵³ ⁶²	Kupari M...Parikka H	16087135	2005
49	Brain natriuretic peptide release in cardiac surgery patients. ⁵³ ⁶²	Sinha AM...Stellbrink C	15926091	2005
50	Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. ⁵³ ⁶²	Weber M...Hamm C	15781428	2005

Sources

Genes for Aortic Valve Disease 2

Genes related to Aortic Valve Disease 2 (2 elite genes):

(show top 50) (show all 59)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SMAD6	SMAD Family Member 6	Protein Coding	1338.12	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	22275001 30796334 30848080
2	TBX5	T-Box Transcription Factor 5	Protein Coding	430.87	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	8988164 8988165 9536098 (more) 10077612 11555635 12499378 12789647 16183809 16917909 17534187 17576681 19648116 20519243 21637475 24664498 25263169 30552424 16199547 25640679
3	NPPB	Natriuretic Peptide B	Protein Coding	14.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16209233 19137789 9060799 (more) 11579366 17662495 15533858 17346543 15926091 18774001 11163730 15144992 16466963 20424150 19733722 18077013 17090563 15781428 20099699 19633743 15729209 17537153 12668523 15541842 17515464 19236823 9124176 16087135 20099698
4	ELN	Elastin	Protein Coding	12.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8776022 11701637 20425789 (more) 7805255 17072776 17639596 14556246
5	MYH7	Myosin Heavy Chain 7	Protein Coding	12.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	20124440
6	HGD	Homogentisate 1,2-Dioxygenase	Protein Coding	11.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10461246
7	MYL4	Myosin Light Chain 4	Protein Coding	11.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1533180
8	CNMD	Chondromodulin	Protein Coding	10.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18766323
9	NPPA	Natriuretic Peptide A	Protein Coding	10.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9060799 11579366 14973795 (more) 8890821 12668523 9159597 18805276 17346543 16498244
10	PDLIM1	PDZ And LIM Domain 1	Protein Coding	10.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1488232 8469630 8620979
11	MIR21	MicroRNA 21	RNA Gene	9.96	DISEASES inferred ¹⁴ ¹⁴
12	SPP1	Secreted Phosphoprotein 1	Protein Coding	9.7	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7554197 19577079
13	BMP2	Bone Morphogenetic Protein 2	Protein Coding	8.59	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15311861
14	MIR423	MicroRNA 423	RNA Gene	8.57	DISEASES inferred ¹⁴ ¹⁴
15	MIR199A1	MicroRNA 199a-1	RNA Gene	8.38	DISEASES inferred ¹⁴ ¹⁴
16	MIR29B1	MicroRNA 29b-1	RNA Gene	8.38	DISEASES inferred ¹⁴ ¹⁴
17	MIR126	MicroRNA 126	RNA Gene	8.1	DISEASES inferred ¹⁴ ¹⁴
18	MIR195	MicroRNA 195	RNA Gene	8.03	DISEASES inferred ¹⁴ ¹⁴
19	TNFSF11	TNF Superfamily Member 11	Protein Coding	7.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15596058 17254844
20	MIR34A	MicroRNA 34a	RNA Gene	7.84	DISEASES inferred ¹⁴ ¹⁴
21	MIR424	MicroRNA 424	RNA Gene	7.79	DISEASES inferred ¹⁴ ¹⁴
22	MIR505	MicroRNA 505	RNA Gene	7.62	DISEASES inferred ¹⁴ ¹⁴
23	MIR374B	MicroRNA 374b	RNA Gene	7.56	DISEASES inferred ¹⁴ ¹⁴
24	MIR22	MicroRNA 22	RNA Gene	7.53	DISEASES inferred ¹⁴ ¹⁴
25	ACE	Angiotensin I Converting Enzyme	Protein Coding	7.48	DISEASES inferred ¹⁴
26	MIR150	MicroRNA 150	RNA Gene	7.3	DISEASES inferred ¹⁴ ¹⁴
27	SERPINA3	Serpin Family A Member 3	Protein Coding	7.28	DISEASES inferred ¹⁴ ¹⁴
28	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	7.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16709694
29	VWF	Von Willebrand Factor	Protein Coding	7.22	DISEASES inferred ¹⁴
30	MIR17	MicroRNA 17	RNA Gene	7.18	DISEASES inferred ¹⁴ ¹⁴
31	IBSP	Integrin Binding Sialoprotein	Protein Coding	7.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15311861
32	MIR132	MicroRNA 132	RNA Gene	7.17	DISEASES inferred ¹⁴ ¹⁴
33	MIR486-1	MicroRNA 486-1	RNA Gene	7.11	DISEASES inferred ¹⁴ ¹⁴
34	REN	Renin	Protein Coding	7.08	DISEASES inferred ¹⁴
35	TTR	Transthyretin	Protein Coding	7.03	DISEASES inferred ¹⁴
36	CRP	C-Reactive Protein	Protein Coding	6.96	DISEASES inferred ¹⁴
37	MIR26B	MicroRNA 26b	RNA Gene	6.93	DISEASES inferred ¹⁴ ¹⁴
38	MYH6	Myosin Heavy Chain 6	Protein Coding	6.92	DISEASES inferred ¹⁴
39	APOB	Apolipoprotein B	Protein Coding	6.85	DISEASES inferred ¹⁴
40	LPA	Lipoprotein(A)	Protein Coding	6.84	DISEASES inferred ¹⁴
41	PCSK9	Proprotein Convertase Subtilisin/Kexin Type 9	Protein Coding	6.83	DISEASES inferred ¹⁴
42	MIR379	MicroRNA 379	RNA Gene	6.82	DISEASES inferred ¹⁴ ¹⁴
43	MIR3184	MicroRNA 3184	RNA Gene	6.82	DISEASES inferred ¹⁴ ¹⁴
44	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	6.78	DISEASES inferred ¹⁴
45	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	6.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17254844
46	MGP	Matrix Gla Protein	Protein Coding	6.66	DISEASES inferred ¹⁴
47	TTN	Titin	Protein Coding	6.63	DISEASES inferred ¹⁴
48	MYBPC3	Myosin Binding Protein C3	Protein Coding	6.58	DISEASES inferred ¹⁴
49	TNNI3	Troponin I3, Cardiac Type	Protein Coding	6.53	DISEASES inferred ¹⁴
50	AGT	Angiotensinogen	Protein Coding	6.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8800593

Sources

Variations for Aortic Valve Disease 2

ClinVar genetic disease variations for Aortic Valve Disease 2:

⁵ (show top 50) (show all 478)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMAD6	NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe)	SNV	Pathogenic	37111	rs387907283	GRCh37: 15:67073833-67073833 GRCh38: 15:66781495-66781495
2	SMAD6	NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)	DUP	Pathogenic	635569	rs1595804976	GRCh37: 15:67073547-67073548 GRCh38: 15:66781209-66781210
3	TBX5	NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)	SNV	Pathogenic	861408	rs1871830806	GRCh37: 12:114839634-114839634 GRCh38: 12:114401829-114401829
4	TBX5	NM_181486.4(TBX5):c.813_814del (p.His271fs)	MICROSAT	Pathogenic	957169	rs1869539814	GRCh37: 12:114804138-114804139 GRCh38: 12:114366333-114366334
5	TBX5	NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer)	INDEL	Pathogenic	964855	rs1871830996	GRCh37: 12:114839634-114839635 GRCh38: 12:114401829-114401830
6	TBX5	NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter)	INDEL	Pathogenic	968329	rs1593836748	GRCh37: 12:114793778-114793779 GRCh38: 12:114355973-114355974
7	TBX5	NM_181486.4(TBX5):c.982+1G>A	SNV	Pathogenic	1409261		GRCh37: 12:114803969-114803969 GRCh38: 12:114366164-114366164
8	TBX5	NC_000012.12:g.(?_114401806)_(114401940_?)del	DEL	Pathogenic	652398		GRCh37: 12:114839611-114839745 GRCh38: 12:114401806-114401940
9	TBX5	NM_181486.4(TBX5):c.1012del (p.Tyr338fs)	DEL	Pathogenic	1454149		GRCh37: 12:114793882-114793882 GRCh38: 12:114356077-114356077
10	TBX5	NM_181486.4(TBX5):c.691C>T (p.Pro231Ser)	SNV	Pathogenic	1433880		GRCh37: 12:114823345-114823345 GRCh38: 12:114385540-114385540
11	TBX5	NM_181486.4(TBX5):c.798del (p.Val267fs)	DEL	Pathogenic	1455873		GRCh37: 12:114804154-114804154 GRCh38: 12:114366349-114366349
12	TBX5	NC_000012.11:g.(?_114823261)_(114823392_?)del	DEL	Pathogenic	1457204		GRCh37: 12:114823261-114823392 GRCh38:
13	TBX5	NC_000012.11:g.(?_114837390)_(114846189_?)del	DEL	Pathogenic	1459610		GRCh37: 12:114837390-114846189 GRCh38:
14	TBX5	NM_181486.4(TBX5):c.400del (p.Arg134fs)	DEL	Pathogenic	1453432		GRCh37: 12:114836488-114836488 GRCh38: 12:114398683-114398683
15	TBX5	NM_181486.4(TBX5):c.760G>T (p.Glu254Ter)	SNV	Pathogenic	1350538		GRCh37: 12:114804192-114804192 GRCh38: 12:114366387-114366387
16	TBX5	NM_181486.4(TBX5):c.958del (p.Ile320fs)	DEL	Pathogenic	237218	rs878853750	GRCh37: 12:114803994-114803994 GRCh38: 12:114366189-114366189
17	TBX5	NM_181486.4(TBX5):c.443G>A (p.Trp148Ter)	SNV	Pathogenic	411100	rs1060503154	GRCh37: 12:114836445-114836445 GRCh38: 12:114398640-114398640
18	TBX5	NM_181486.4(TBX5):c.154G>T (p.Glu52Ter)	SNV	Pathogenic	835086	rs1208004863	GRCh37: 12:114839719-114839719 GRCh38: 12:114401914-114401914
19	TBX5	NM_181486.4(TBX5):c.69del (p.Cys24fs)	DEL	Pathogenic	857821	rs1872004016	GRCh37: 12:114841635-114841635 GRCh38: 12:114403830-114403830
20	TBX5	NM_181486.4(TBX5):c.246del (p.Met83fs)	DEL	Pathogenic	862164	rs1871673161	GRCh37: 12:114837434-114837434 GRCh38: 12:114399629-114399629
21	TBX5	NM_181486.4(TBX5):c.593del (p.Asn198fs)	DEL	Pathogenic	944045	rs1565939215	GRCh37: 12:114832616-114832616 GRCh38: 12:114394811-114394811
22	TBX5	NM_181486.4(TBX5):c.383_386dup (p.Met131fs)	DUP	Pathogenic	1071824		GRCh37: 12:114836501-114836502 GRCh38: 12:114398696-114398697
23	TBX5	NM_181486.4(TBX5):c.142C>T (p.Gln48Ter)	SNV	Pathogenic	213820	rs863223777	GRCh37: 12:114841562-114841562 GRCh38: 12:114403757-114403757
24	TBX5	NM_181486.4(TBX5):c.278dup (p.Leu94fs)	DUP	Pathogenic	411102	rs1555226420	GRCh37: 12:114837401-114837402 GRCh38: 12:114399596-114399597
25	TBX5	NM_181486.4(TBX5):c.629_632dup (p.Ile212fs)	DUP	Pathogenic	477658	rs1555225989	GRCh37: 12:114832576-114832577 GRCh38: 12:114394771-114394772
26	TBX5	NM_181486.4(TBX5):c.432dup (p.Gly145fs)	DUP	Pathogenic	543961	rs1555226322	GRCh37: 12:114836455-114836456 GRCh38: 12:114398650-114398651
27	TBX5	NM_181486.4(TBX5):c.595dup (p.Thr199fs)	DUP	Pathogenic	543962	rs1555226005	GRCh37: 12:114832613-114832614 GRCh38: 12:114394808-114394809
28	TBX5	NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)	SNV	Pathogenic	569967	rs1565927747	GRCh37: 12:114804084-114804084 GRCh38: 12:114366279-114366279
29	TBX5	NM_181486.4(TBX5):c.390del (p.Met131fs)	DEL	Pathogenic	577533	rs1565941046	GRCh37: 12:114836498-114836498 GRCh38: 12:114398693-114398693
30	TBX5	NM_181486.4(TBX5):c.163_172del (p.Lys55fs)	DEL	Pathogenic	656872	rs1593883930	GRCh37: 12:114839701-114839710 GRCh38: 12:114401896-114401905
31	TBX5	NC_000012.12:g.(?_114401816)_(114401930_?)del	DEL	Pathogenic	661191		GRCh37: 12:114839621-114839735 GRCh38: 12:114401816-114401930
32	TBX5	NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter)	SNV	Pathogenic	1072954		GRCh37: 12:114804187-114804187 GRCh38: 12:114366382-114366382
33	TBX5	NM_181486.4(TBX5):c.456del (p.Val153fs)	DEL	Pathogenic	377113	rs1057520136	GRCh37: 12:114836432-114836432 GRCh38: 12:114398627-114398627
34	TBX5	NC_000012.11:g.(?_114793317)_(114841723_?)del	DEL	Pathogenic	477653		GRCh37: 12:114793317-114841723 GRCh38:
35	TBX5	NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)	SNV	Pathogenic	279906	rs886041247	GRCh37: 12:114832622-114832622 GRCh38: 12:114394817-114394817
36	TBX5	NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	SNV	Pathogenic	449105	rs1555225344	GRCh37: 12:114823368-114823368 GRCh38: 12:114385563-114385563
37	TBX5	NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter)	SNV	Pathogenic	567672	rs1565923835	GRCh37: 12:114793790-114793790 GRCh38: 12:114355985-114355985
38	TBX5	NM_181486.4(TBX5):c.926_927del (p.Asn309fs)	DEL	Pathogenic	659191	rs1593847163	GRCh37: 12:114804025-114804026 GRCh38: 12:114366220-114366221
39	TBX5	NM_181486.4(TBX5):c.362+2T>C	SNV	Pathogenic	665547	rs1593881162	GRCh37: 12:114837316-114837316 GRCh38: 12:114399511-114399511
40	TBX5	NM_181486.4(TBX5):c.593dup (p.Asn198fs)	DUP	Pathogenic	633726		GRCh37: 12:114832615-114832616 GRCh38: 12:114394810-114394811
41	TBX5	NM_181486.4(TBX5):c.243-2A>G	SNV	Pathogenic	1071999		GRCh37: 12:114837439-114837439 GRCh38: 12:114399634-114399634
42	TBX5	NM_181486.4(TBX5):c.341dup (p.Tyr114Ter)	DUP	Pathogenic	1075045		GRCh37: 12:114837338-114837339 GRCh38: 12:114399533-114399534
43	TBX5	NC_000012.11:g.(?_114793327)_(114793921_?)del	DEL	Pathogenic	1076612		GRCh37: 12:114793327-114793921 GRCh38:
44	TBX5	NC_000012.12:g.(?_114394721)_(114394913_?)del	DEL	Pathogenic	831407		GRCh37: 12:114832526-114832718 GRCh38:
45	TBX5	NM_181486.4(TBX5):c.727del (p.Glu243fs)	DEL	Pathogenic	846539	rs1870762150	GRCh37: 12:114823309-114823309 GRCh38: 12:114385504-114385504
46	TBX5	NM_181486.4(TBX5):c.663+1G>A	SNV	Pathogenic	849438	rs1871328488	GRCh37: 12:114832545-114832545 GRCh38: 12:114394740-114394740
47	TBX5	NM_181486.4(TBX5):c.252T>A (p.Phe84Leu)	SNV	Pathogenic	1062314		GRCh37: 12:114837428-114837428 GRCh38: 12:114399623-114399623
48	TBX5	NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter)	SNV	Pathogenic	1454646		GRCh37: 12:114793857-114793857 GRCh38: 12:114356052-114356052
49	TBX5	NM_181486.4(TBX5):c.982+2T>G	SNV	Pathogenic	1455790		GRCh37: 12:114803968-114803968 GRCh38: 12:114366163-114366163
50	SMAD6	NM_005585.5(SMAD6):c.794del (p.His265fs)	DEL	Pathogenic	590964	rs1567092071	GRCh37: 15:66996390-66996390 GRCh38: 15:66704052-66704052

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

⁷³

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

Sources

Expression for Aortic Valve Disease 2

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

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Pathways for Aortic Valve Disease 2

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

#	Super pathways	Score	Top Affiliating Genes
1	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12	TBX5 NPPB NPPA MYH7 BMP2
2	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.56	TBX5 SPP1 BMP2
3	MicroRNAs in cardiomyocyte hypertrophy ⁷⁴ Show member pathways Cardiac hypertrophic response ⁷⁴	11.52	NPPB NPPA MIR21 MIR199A1 MIR195
4	miRNAs involved in DNA damage response ⁷⁴	11.32	MIR29B1 MIR21 MIR195
5	miRNAs involvement in the immune response in sepsis ⁷⁴	11.23	MIR21 MIR199A1 MIR126
6	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.61	TBX5 NPPA
7	Bone morphogenic protein signaling and regulation ⁷⁴	10.45	SMAD6 BMP2
8	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.27	NPPB NPPA MYH7 BMP2

Sources

GO Terms for Aortic Valve Disease 2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	10.03	TNFSF11 SPP1 NPPB NPPA MIR423 MIR29B1
2	RISC complex	GO:0016442	9.73	MIR423 MIR29B1 MIR21 MIR199A1 MIR195 MIR126
3	extracellular vesicle	GO:1903561	8.92	MIR34A MIR29B1 MIR21 MIR126

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell population proliferation	GO:0008285	10.13	TBX5 SMAD6 MIR29B1 MIR21 MIR195 BMP2
2	miRNA-mediated gene silencing	GO:0035195	10.03	MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195
3	negative regulation of gene expression	GO:0010629	10	MIR34A MIR29B1 MIR21 MIR199A1 BMP2
4	proteoglycan metabolic process	GO:0006029	9.89	CNMD BMP2
5	positive regulation of protein kinase B signaling	GO:0051897	9.89	MIR126 MIR199A1 MIR21 TNFSF11
6	pericardium development	GO:0060039	9.88	TBX5 BMP2
7	negative regulation of angiogenesis	GO:0016525	9.88	CNMD MIR21 MIR34A NPPB
8	positive regulation of fat cell differentiation	GO:0045600	9.85	BMP2 MIR21 MIR29B1
9	aortic valve morphogenesis	GO:0003180	9.85	SMAD6 NPPA ELN
10	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	GO:1902514	9.74	NPPA MIR21
11	miRNA-mediated gene silencing by inhibition of translation	GO:0035278	9.73	MIR29B1 MIR21 MIR126
12	negative regulation of cell migration	GO:0030336	9.63	TBX5 MIR34A MIR29B1 MIR21 MIR126
13	cell growth involved in cardiac muscle cell development	GO:0061049	9.58	MIR199A1 MIR195
14	negative regulation of oxidative stress-induced cell death	GO:1903202	9.54	MIR195 MIR29B1
15	positive regulation of metalloendopeptidase activity	GO:1904685	9.51	MIR29B1 MIR21
16	positive regulation of potassium ion export across plasma membrane	GO:1903766	9.5	NPPA MIR21
17	negative regulation of metallopeptidase activity	GO:1905049	9.46	MIR29B1 MIR199A1
18	negative regulation of matrix metallopeptidase secretion	GO:1904465	9.43	MIR29B1 MIR199A1
19	negative regulation of vascular endothelial growth factor production	GO:1904046	9.13	MIR34A MIR199A1 MIR195
20	positive regulation of connective tissue replacement	GO:1905205	8.8	MIR34A MIR199A1 MIR195

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

#	Name	GO ID	Score	Top Affiliating Genes
1	hormone receptor binding	GO:0051427	9.46	NPPB NPPA
2	mRNA 3'-UTR binding	GO:0003730	9.43	MIR34A MIR29B1 MIR21 MIR199A1 MIR195 MIR126
3	mRNA base-pairing translational repressor activity	GO:1903231	9.17	MIR423 MIR34A MIR29B1 MIR21 MIR199A1 MIR195