AS
MCID: ART019
MIFTS: 64

Aortic Valve Stenosis (AS) malady

Cardiovascular, Fetal categories

Summaries for Aortic Valve Stenosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Aortic valve stenosis (avs) is a condition characterized by narrowing of the heart's aortic valve opening. this narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. avs can range from mild to severe. signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. individuals with less severe congenital avs (present at birth) may not develop symptoms until adulthood. individuals with severe cases may faint without warning. the condition can eventually lead to heart failure. avs can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. treatment may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition. last updated: 7/5/2013

MalaCards: Aortic Valve Stenosis, also known as aortic stenosis, is related to adenocarcinoma and coronary artery disease,. An important gene associated with Aortic Valve Stenosis is EXTL3 (exostosin-like glycosyltransferase 3), and among its related pathways are Renin-angiotensin system and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The compounds Pirbuterol and Levobunolol have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and whole blood, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Disease Ontology:8 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

Wikipedia:64 Aortic valve stenosis (AS) is a disease of the heart valves in which the opening of the aortic valve is... more...

Description from OMIM:47 109730

Aliases & Classifications for Aortic Valve Stenosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 45Novoseek, 49Orphanet, 57SNOMED-CT, 27ICD9CM, 35MeSH, 47OMIM, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular


Aliases & Descriptions:

aortic valve stenosis 8 43 10 61
aortic stenosis 8 43 45
congenital aortic valve stenosis 8 49
congenital stenosis of aortic valve 8
valvular aortic stenosis 43
as 8


External Ids:

Disease Ontology8 DOID:1712
ICD9CM27 746.3
MeSH35 D001024
OMIM47 109730
NCIt40 C50462
ICD10 via Orphanet26 Q23.0
SNOMED-CT via Orphanet58 18546004
UMLS via Orphanet62 C0152417

Related Diseases for Aortic Valve Stenosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Aortic Valve Stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 5425)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma31.1ADRB2, NPPC, NPR1
2coronary artery disease,30.9NPPC, MGP, AGER, PLTP, ADRB1, ADRB2
3acute myocardial infarction30.7ADRB2, ADRB1
4atherosclerosis30.5BGN, NPPC, MGP, AGER, AHSG, LECT1
5osteoporosis30.5AHSG, AGER, MGP
6coronary heart disease30.4MGP, AGER, PLTP, ADRB1, ADRB2
7chagas disease30.2ADRB1
8vascular disease30.1MGP
9cadasil30.1NPR1, ACE2, ADRB1, ADRB2
10uremia29.9AHSG, AGER
11noonan syndrome29.9ADRB2, ADRB1, ACE2, NPPC
12primary hyperoxaluria29.9NPPC, MGP, AGER, AHSG, ACE2
13acromesomelic dysplasia29.1NPPC
14supravalvular aortic stenosis11.2
15subvalvular aortic stenosis10.9
16aortic valve disease10.8
17aortic disease10.8
18acute leukemia10.8
19squamous cell carcinoma10.7
20colorectal cancer10.7
21williams syndrome10.7
22tuberculosis10.6
23hepatitis c10.6
24mitral valve stenosis10.6
25adenoma10.6
26asthma10.6
27carotid stenosis10.6
28rheumatic aortic valve stenosis10.5
29aortic aneurysm10.5
30aortic coarctation10.5
31t-cell leukemia10.5
32sepsis10.5
33pulmonary supravalvular stenosis10.5
34tricuspid valve stenosis10.5
35acute myeloid leukemia10.5
36alzheimer's disease10.5
37vasculitis10.5
38hypoxia10.5
39williams-beuren syndrome10.5
40ataxia10.5
41angiodysplasia10.4
42endocardial fibroelastosis10.4
43cystic fibrosis10.4
44hepatitis c virus10.4
45hepatitis d10.4
46bladder carcinoma10.4
47cellulitis10.4
48mental retardation10.4
49acute pancreatitis10.4
50hepatitis e10.4

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



Diseases related to aortic valve stenosis

Clinical Features for Aortic Valve Stenosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

109730

Drugs & Therapeutics for Aortic Valve Stenosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Aortic Valve Stenosis

Drug clinical trials:

Search ClinicalTrials for Aortic Valve Stenosis

Search NIH Clinical Center for Aortic Valve Stenosis

Search CenterWatch for Aortic Valve Stenosis

Genetic Tests for Aortic Valve Stenosis

Anatomical Context for Aortic Valve Stenosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Aortic Valve Stenosis:

33
Brain, Kidney, Whole blood, Heart, Smooth muscle, Small intestine, Colon, Monocytes, T cells, B cells, Endothelial, Fetal brain

Animal Models for Aortic Valve Stenosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Aortic Valve Stenosis

Sources:
51PubMed
See all sources

Articles related to Aortic Valve Stenosis:

(show top 50)    (show all 587)
idTitleAuthorsYear
1
Correlation between systolic transvalvular flow and proximal aortic wall changes in bicuspid aortic valve stenosis. (24431167)
2014
2
Unusual association of aortic valve stenosis with ventricular septal defect and pulmonary atresia: Differentiation from truncus arteriosus with truncal valve stenosis. (23626446)
2013
3
Transcatheter aortic valve implantation for patients with severe bicuspid aortic valve stenosis. (23756698)
2013
4
Infant congenital aortic valve stenosis: the pendulum swings. (23973691)
2013
5
An unknown cause of aortic valve stenosis: polycythemia vera. (22843194)
2013
6
Simulation of exercise-induced syncope in a heart model with severe aortic valve stenosis. (23251225)
2012
7
Elliptical shape of a SAPIEN XT prosthesis deployed in a patient with bicuspid aortic valve stenosis. (23409359)
2012
8
Aortic valve stenosis after previous coronary bypass: transcatheter valve implantation or aortic valve replacement? (22642844)
2012
9
Aortic and mitral valve stenosis with regurgitation: not due to rheumatic heart disease. (20718842)
2011
10
Upregulation of the 5-lipoxygenase pathway in human aortic valves correlates with severity of stenosis and leads to leukotriene-induced effects on valvular myofibroblasts. (21403093)
2011
11
Increased macrophage infiltration and neovascularization in congenital bicuspid aortic valve stenosis. (21481422)
2011
12
Involvement of bone morphogenetic protein-binding endothelial regulator in aortic valve stenosis. (21802751)
2011
13
Transcatheter aortic valve implantation in patients with severe symptomatic aortic valve stenosis-predictors of mortality and poor treatment response. (21835283)
2011
14
Transapical aortic valve implantation in high-risk patients with severe aortic valve stenosis. (22051264)
2011
15
Revival of continuous suture technique in aortic valve replacement in patient with aortic valve stenosis: a novel modified technique. (22436707)
2011
16
Analysis of variability and reproducibility of echocardiography measurements in valvular aortic valve stenosis. (21425741)
2011
17
Progression rate of aortic valve stenosis in korean patients. (21253361)
2010
18
Real-time three-dimensional transoesophageal echocardiography in the assessment of aortic valve stenosis. (19805413)
2010
19
Examination of periodontal pathogens in stenotic valve specimens and in whole blood samples in patients affected by aortic valve stenosis and chronic periodontitis. (20646351)
2010
20
Paraoxonase activity might be predictive of the severity of aortic valve stenosis. (20845892)
2010
21
Percutaneous implantation of the self-expandable CoreValve for high risk patients with severe aortic valve stenosis: early Israeli experience. (21337814)
2010
22
Left atrial ball thrombus associated with severe left ventricular dysfunction due to aortic valve stenosis in a patient on dialysis. (19258105)
2009
23
Ebstein's anomaly of the tricuspid valve with rheumatic mitral stenosis and aortic incompetence. (19455898)
2009
24
Factors influencing left ventricular structure and stress-corrected systolic function in men and women with asymptomatic aortic valve stenosis (a SEAS Substudy). (18312768)
2008
25
Aortic valve stenosis due to alkaptonuria. (18365580)
2008
26
Fetal transesophageal echocardiography during balloon valvuloplasty for severe aortic valve stenosis at 28+6 weeks of gestation. (17599528)
2007
27
Rosuvastatin affecting aortic valve endothelium to slow the progression of aortic stenosis. (17276178)
2007
28
Systemic and local levels of fetuin-A in calcific aortic valve stenosis. (17611637)
2007
29
Nanobacteria-associated calcific aortic valve stenosis. (17315391)
2007
30
Type I and type III collagen synthesis and composition in the valve matrix in aortic valve stenosis. (16405893)
2006
31
Histopathology of calcific aortic valve stenosis. (17117757)
2006
32
Late iatrogenic coronary stenosis after selective intraoperative antegrade myocardial protection for stentless aortic valve replacement. (16872972)
2006
33
The evaluation of aortic atherosclerosis and distensibility in aortic valve stenosis--the role of transesophageal echocardiography. (16256821)
2005
34
Anomalous origin of the right coronary artery from the pulmonary artery combined with aortic valve stenosis. (15620981)
2005
35
A hybrid approach for quantification of aortic valve stenosis using cardiac magnetic resonance imaging and echocardiography. (15959971)
2005
36
Images in geriatric cardiology. Usefulness of live three-dimensional transthoracic echocardiography in aortic valve stenosis evaluation. (15365294)
2004
37
Tissue Doppler imaging in patients with moderate to severe aortic valve stenosis: clinical usefulness and diagnostic accuracy. (15459603)
2004
38
Diagnosing heart failure in aortic valve stenosis. (15485473)
2004
39
Significant aortic and pulmonary valve stenosis in the prenatal period: diagnosis, treatment and outcome. A two-centre study. (15139701)
2004
40
Practical value of cardiac magnetic resonance imaging for clinical quantification of aortic valve stenosis: comparison with echocardiography. (14568899)
2003
41
Interleukin-1 beta promotes matrix metalloproteinase expression and cell proliferation in calcific aortic valve stenosis. (14612199)
2003
42
Factors determining early improvement in mitral regurgitation after aortic valve replacement for aortic valve stenosis: a transthoracic and transesophageal prospective study. (12685618)
2003
43
Bicuspid aortic valve stenosis complicated by descending aortic dissection mimicking coarctation of the aorta. (12221419)
2002
44
Assessment of aortic valve stenosis severity: A new index based on the energy loss concept. (10683350)
2000
45
Concurrent balloon dilatation of coexisting congenital pulmonary and aortic valve stenosis. (8682561)
1996
46
Experimental analysis of fluid mechanical energy losses in aortic valve stenosis: importance of pressure recovery. (8923988)
1996
47
Decreased platelet function in aortic valve stenosis: high shear platelet activation then inactivation. (8541170)
1995
48
Pathology of aortic valve stenosis and pure aortic regurgitation. A clinical morphologic assessment--Part I. (8162631)
1994
49
Comparison of risks and short- and long-term results of balloon dilatation versus surgical treatment for pulmonary and aortic valve stenosis and restenosis and coarctation and recoarctation of the aorta. (8287086)
1993
50
Exclusion of coronary artery disease by exercise thallium-201 tomography in patients with aortic valve stenosis. (1510012)
1992

Genetic Variations for Aortic Valve Stenosis

Expression for genes affiliated with Aortic Valve Stenosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Aortic Valve Stenosis

Search GEO for disease gene expression data for Aortic Valve Stenosis.

Pathways for genes affiliated with Aortic Valve Stenosis

Sources:
30KEGG, 54Reactome, 50PharmGKB, 38NCBI BioSystems Database
See all sources

Pathways related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3ACE2, MAS1, ATP6AP2
2
Hide members
10.3ACE2, MAS1, ATP6AP2

Compounds for genes affiliated with Aortic Valve Stenosis

Sources:
11DrugBank, 29IUPHAR, 45Novoseek, 50PharmGKB, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1Pirbuterol1110.8ADRB1, ADRB2
2Levobunolol1110.8ADRB2, ADRB1
3Metipranolol1110.8ADRB2, ADRB1
4lk 204-5452910.8ADRB1, ADRB2
5nip2910.8ADRB2, ADRB1
6cicloprolol2910.8ADRB2, ADRB1
7nihp2910.8ADRB2, ADRB1
8isoprenaline2910.8ADRB1, ADRB2
9Erythrityl Tetranitrate1110.8NPR2, NPR1
10Arbutamine1110.8ADRB2, ADRB1
11Bevantolol1110.8ADRB2, ADRB1
12sr59230a2910.8ADRB1, ADRB2
13dopexamine4510.8ADRB2, ADRB1
14[125i]icyp2910.8ADRB2, ADRB1
15cgp 1217729 4511.8ADRB2, ADRB1
16Nesiritide1110.8NPR2, NPR1
17Oxprenolol1110.8ADRB1, ADRB2
18penbutolol45 1111.8ADRB1, ADRB2
19noradrenaline2910.8ADRB1, ADRB2
20bupranolol29 45 1112.8ADRB1, ADRB2
21nadolol45 29 1112.8ADRB1, ADRB2
22icyp4510.8ADRB1, ADRB2
23carteolol45 1111.8ADRB2, ADRB1
24Acebutolol1110.7ADRB2, ADRB1
25Bopindolol1110.7ADRB2, ADRB1
26sotalol45 1111.7ADRB1, ADRB2
27zinterol45 2911.7ADRB2, ADRB1
28alprenolol45 29 1112.7ADRB2, ADRB1
29timolol45 29 50 1113.7ADRB2, ADRB1
30guanylate4510.7NPR1, NPR2, NPPC, ADRB1
31brain natriuretic peptide (1-32) (human)6010.7NPR2, NPR1
32atrial natriuretic factor (1-28) (rat)6010.7NPR2, NPR1
33c-type natriuretic peptide (1-22) (human, rat, swine)6010.7NPR2, NPR1
34labetalol45 1111.7ADRB1, ADRB2
35atrial natriuretic factor (1-28) (human, porcine)6010.7NPR1, NPR2
36forskolin45 50 1112.7NPR1, NPPC, ADRB1, ADRB2
37betaxolol45 29 1112.6ADRB1, ADRB2
38bucindolol50 4511.6ADRB1, ADRB2
39nebivolol45 1111.6ADRB1, ADRB2
40urodilatin4510.6NPR1, NPPC
41bisoprolol45 50 1112.6ADRB2, ADRB1
42dexamethasone45 50 29 1113.5BGN, NPR2, NPPC, DLX5, ADRB1, ADRB2
43pseudoephedrine45 11 2412.5ADRB2, ADRB1
44nitric oxide45 11 2412.5ADRB2, NPR1, NPR2, NPPC, JAG1, AGER
45dobutamine45 29 1112.5ADRB1, ADRB2
46clenbuterol45 1111.5ADRB1, ADRB2
47pindolol45 29 1112.4ADRB2, ADRB1
48Ephedra1110.4ADRB2, ADRB1
49Droxidopa1110.3ADRB2, ADRB1
50glucose459.9NPPC, AGER, AHSG, PLTP, ADRB1, ADRB2

GO Terms for genes affiliated with Aortic Valve Stenosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.2ADRB2, ADRB1, MAS1, AGER, JAG1, NPR1
2extracellular regionGO:0055769.7ACE2, BGN, NPPC, JAG1, AGER, AHSG

Biological processes related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1heat generationGO:03164910.7ADRB1, ADRB2
2vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:00202510.7ADRB1, ADRB2
3cGMP biosynthetic processGO:00618210.6NPPC, NPR2, NPR1
4receptor guanylyl cyclase signaling pathwayGO:00716810.6NPR1, NPR2, NPPC
5regulation of vasodilationGO:04231210.6NPR1, ACE2, ADRB2
6negative regulation of smooth muscle contractionGO:04598610.6ADRB2, ADRB1
7diet induced thermogenesisGO:00202410.6ADRB2, ADRB1
8ossificationGO:00150310.6NPR2, NPPC, MGP, AHSG
9regulation of inflammatory responseGO:05072710.5ACE2, AHSG, MAS1
10regulation of blood pressureGO:00821710.5NPR1, NPR2, NPPC
11positive regulation of cGMP biosynthetic processGO:03082810.5NPPC, NPR1
12cell surface receptor signaling pathwayGO:00716610.5NPR1, NPR2, AGER, ADRB2
13negative regulation of multicellular organism growthGO:04001510.5ADRB1, ADRB2
14angiotensin maturationGO:00200310.4ATP6AP2, ACE2
15regulation of blood vessel sizeGO:05088010.4NPPC, NPR1
16skeletal system developmentGO:00150110.3LECT1, DLX5, AHSG
17regulation of bone mineralizationGO:03050010.3MGP, AHSG
18regulation of vasoconstrictionGO:01922910.1ACE2, NPPC

Molecular functions related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1natriuretic peptide receptor activityGO:01694110.4NPR2, NPR1
2hormone bindingGO:04256210.4NPR2, NPR1
3peptide hormone bindingGO:01704610.3ACE2, MAS1, NPR2, NPR1
4norepinephrine bindingGO:05138010.3ADRB1, ADRB2
5guanylate cyclase activityGO:00438310.1NPR2, NPR1

Products for genes affiliated with Aortic Valve Stenosis

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  • Proteins
  • Lysates
  • Antibodies

Sources for Aortic Valve Stenosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet