AS
MCID: ART019
MIFTS: 68

Aortic Valve Stenosis (AS) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Aortic Valve Stenosis

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hypertension. 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 Levobunolol and cicloprolol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, 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:63 Aortic valve stenosis (AS) is a disease of the heart valves in which the opening of the aortic valve is... more...

Description from OMIM:46 109730

Aliases & Classifications for Aortic Valve Stenosis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 44Novoseek, 48Orphanet, 56SNOMED-CT, 27ICD9CM, 34MeSH, 46OMIM, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Aliases & Descriptions:

aortic valve stenosis 8 42 10 60
aortic stenosis 8 42 44
congenital aortic valve stenosis 8 48
congenital stenosis of aortic valve 8
valvular aortic stenosis 42
as 8


External Ids:

Disease Ontology8 DOID:1712
ICD9CM27 746.3
MeSH34 D001024
OMIM46 109730
NCIt39 C50462
ICD10 via Orphanet26 Q23.0
SNOMED-CT via Orphanet57 18546004
UMLS via Orphanet61 C0152417

Related Diseases for Aortic Valve Stenosis

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17GeneCards, 18GeneDecks
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Diseases related to Aortic Valve Stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 5211)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma31.1NPPC, NPR1, ADRB2
2hypertension31.1NPR1, ATP6AP2, NPPC, ADRB1, ADRB2, ACE2
3coronary artery disease30.9MGP, AGER, PLTP, ADRB1, ADRB2, NPPC
4diabetes mellitus30.8MGP, AHSG, PLTP, AGER
5acute myocardial infarction30.7ADRB1, ADRB2
6glaucoma30.6NPR1, MGP, ADRB1, ADRB2
7atherosclerosis30.5ADRB2, AGER, PLTP, LECT1, AHSG, MGP
8osteoporosis30.5AHSG, AGER, MGP
9myocardial infarction30.3ADRB1, NPR2, NPPC, NPR1, MGP, AGER
10essential hypertension30.3ADRB1, ACE2, AGER, NPR2, NPR1, ADRB2
11colon adenocarcinoma30.2NPPC, NPR1
12chagas disease30.2ADRB1
13congestive heart failure30.2NPPC
14ischemic heart disease30.2ADRB2, ADRB1, NPPC
15vascular disease30.1MGP
16cadasil30.1ADRB2, ADRB1, ACE2, NPR1
17congenital heart defect29.9ADRB1, NPR1, ADRB2
18uremia29.9AHSG, AGER
19hepatitis29.9AHSG
20noonan syndrome29.9ADRB1, ACE2, NPPC, ADRB2
21primary hyperoxaluria29.9AGER, AHSG, ACE2, MGP, NPPC
22hypertrophy of breast29.3MGP, NPPC, NPR1, ADRB2, ADRB1
23acromesomelic dysplasia29.1NPPC
24coronary heart disease29.1ADRB1, MGP, ADRB2, AGER, PLTP
25supravalvular aortic stenosis11.2
26subvalvular aortic stenosis10.9
27coronary stenosis10.9
28leukemia10.9
29breast cancer10.9
30prostatitis10.8
31aortic disease10.8
32pancreatitis10.8
33prostate cancer10.8
34acute leukemia10.7
35thyroiditis10.7
36pulmonary valve stenosis10.7
37squamous cell carcinoma10.7
38cervicitis10.7
39melanoma10.7
40colorectal cancer10.7
41neuronitis10.7
42williams syndrome10.7
43hepatitis a10.7
44sarcoma10.7
45tuberculosis10.6
46hepatocellular carcinoma10.6
47alzheimer's disease10.6
48ovarian cancer10.6
49mitral valve stenosis10.6
50esophagitis10.6

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



Diseases related to aortic valve stenosis

Clinical Features for Aortic Valve Stenosis

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46OMIM
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Clinical features from OMIM:

109730

Drugs & Therapeutics for Aortic Valve Stenosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Aortic Valve Stenosis

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32MalaCards
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MalaCards organs/tissues related to Aortic Valve Stenosis:

32
Heart, Endothelial, Testes, Monocytes, Kidney, Bone, Brain, Smooth muscle, Whole blood, Colon

Animal Models for Aortic Valve Stenosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Aortic Valve Stenosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.2JAG1, NPPC, NPR2, BGN, MGP, AGER
2MP:000537910.1EXTL3, NPR1, NPR2, NPPC, JAG1, FKBP6
3MP:000538510.1MGP, JAG1, NPR2, NPR1, ATP6AP2, AGER
4MP:000301210.1NPR2, BMF, JAG1, AGER, ADRB1, ADRB2
5MP:000538910.1NPR1, NPR2, NPPC, BMF, FKBP6, PLTP
6MP:000536910.1ADRB2, BGN, NPR1, NPR2, JAG1, MGP
7MP:000537810.0BGN, NPR2, NPPC, BMF, JAG1, MGP
8MP:00107689.9NPPC, NPR2, NPR1, EXTL3, BGN, BMF
9MP:00053769.9JAG1, NPPC, NPR2, NPR1, EXTL3, AGER
10MP:00053849.7EXTL3, NPR1, BMF, JAG1, AGER, DLX5

Publications for Aortic Valve Stenosis

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50PubMed
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Articles related to Aortic Valve Stenosis:

(show top 50)    (show all 587)
idTitleAuthorsYear
1
Long-term prognosis of ascending aortic aneurysm after aortic valve replacement for bicuspid versus tricuspid aortic valve stenosis. (23246059)
2014
2
A novel mouse model of aortic valve stenosis induced by direct wire injury. (24311378)
2014
3
Statin use for nonrheumatic calcific aortic valve stenosis: a review with meta-analysis. (23032960)
2013
4
Pre-operative left atrial strain predicts post-operative atrial fibrillation in patients undergoing aortic valve replacement for aortic stenosis. (24202403)
2013
5
Myeloperoxidase and progression of aortic valve stenosis in patients undergoing hemodialysis. (24383374)
2013
6
Valvular osteoclasts in calcification and aortic valve stenosis severity. (23452891)
2013
7
Myocardial hypertrophy is associated with inflammation and activation of endocannabinoid system in patients with aortic valve stenosis. (23567807)
2013
8
Congenitally corrected transposition of the great arteries with coexisting aortic valve stenosis in a 77-year-old woman. (22904566)
2013
9
Indications for and outcomes of valve replacement for asymptomatic aortic valve stenosis. (23685291)
2013
10
Prevention of atrial fibrillation in patients with aortic valve stenosis with candesartan treatment after aortic valve replacement. (21907422)
2013
11
Transesophageal echocardiography for cardiac thromboembolic risk assessment in patients with severe, symptomatic aortic valve stenosis referred for potential transcatheter aortic valve implantation. (23433762)
2013
12
Risk of late aortic events after an isolated aortic valve replacement for bicuspid aortic valve stenosis with concomitant ascending aortic dilation. (22466700)
2012
13
Association of aortic valve stenosis and recurrent gastrointestinal bleeding. (21799418)
2012
14
Flow and peak velocity measurements in patients with aortic valve stenosis using phase contrast MR accelerated with k-t BLAST. (21724348)
2012
15
Acquired aortic coarctation: a rare case of supraortic valve stenosis. (21917340)
2012
16
Lymphangiogenesis in aortic valve stenosis--novel regulatory roles for valvular myofibroblasts and mast cells. (22281299)
2012
17
Transcatheter aortic valve implantation in Jehovah's Witness patients with symptomatic severe aortic valve stenosis. (22753437)
2012
18
One-year results of transcatheter aortic valve implantation in severe symptomatic aortic valve stenosis. (21439537)
2011
19
Measurement of the ascending aorta diameter in patients with severe bicuspid and tricuspid aortic valve stenosis using dual-source computed tomography coronary angiography. (22009020)
2011
20
Ascending-to-descending aortic bypass and aortic valve replacement for concomitant severe aortic coarctation and aortic stenosis. (21278175)
2011
21
I have a friend who was diagnosed with aortic valve stenosis, caused by calcium forming on the valve. I've heard that the condition can also be caused by rheumatic fever, which I had as a child almost 50 years ago. What exactly is aortic valve stenosis, and am I still at risk after all these years (I take medication for cholesterol and arthritis, but am otherwise pretty healthy)? (23043209)
2010
22
The effects of arterial hypertension on aortic valve stenosis. (20707055)
2010
23
Risk of acute kidney injury in patients with severe aortic valve stenosis undergoing transcatheter valve replacement. (19211648)
2009
24
The decrease in QRS amplitude after aortic valve replacement in patients with aortic valve stenosis. (19368931)
2009
25
Reduced number and function of endothelial progenitor cells in patients with aortic valve stenosis: a novel concept for valvular endothelial cell repair. (19010796)
2009
26
Left atrial volume in patients with asymptomatic aortic valve stenosis (the Simvastatin and Ezetimibe in Aortic Stenosis study). (18359326)
2008
27
Mitral annular calcifications and aortic valve stenosis. (18492679)
2008
28
Prediction of pressure recovery location in aortic valve stenosis: an in-vitro validation study. (17944120)
2007
29
A hybrid approach for quantification of aortic valve stenosis using cardiac magnetic resonance imaging and echocardiography: comparison to right heart catheterization and standard echocardiography. (16598529)
2006
30
Chemically modified tetracyclines (CMT-3 and CMT-8) enable control of the pathologic remodellation of human aortic valve stenosis via MMP-9 and VEGF inhibition. (16242193)
2006
31
C-reactive protein in degenerative aortic valve stenosis. (16774687)
2006
32
Postinfarction cardiac rupture despite immediate reperfusion therapy in a patient with severe aortic valve stenosis. (16440151)
2006
33
Axillary artery approach for balloon valvoplasty in young infants with severe aortic valve stenosis: medium-term results. (17086539)
2006
34
Quantification of aortic valve area and left ventricular muscle mass in healthy subjects and patients with symptomatic aortic valve stenosis by MRI. (15747039)
2005
35
Heterogeneous geographic distribution of patients with aortic valve stenosis: arguments for new aetiological hypothesis. (15657257)
2005
36
Diagnosing aortic valve stenosis by parameter extraction of heart sound signals. (16133924)
2005
37
Leakage of cardiac troponin I in aortic valve stenosis. (16115296)
2005
38
Diagnosing aortic valve stenosis by correlation analysis of wavelet filtered heart sounds. (16255426)
2005
39
Survival of acute hemorrhage and extreme dilutional anemia in the presence of high-graded aortic valve stenosis. (15025619)
2004
40
Persistence of Chlamydia pneumoniae in degenerative aortic valve stenosis indicated by heat shock protein 60 homologues. (12578339)
2003
41
Three dimensional echocardiography and aortic valve stenosis. (14676749)
2003
42
Aortic valve stenosis in alkaptonuric ochronosis. (12056732)
2002
43
Progression of human aortic valve stenosis is associated with tenascin-C expression. (11755293)
2002
44
Treatment of congenital aortic valve stenosis: impact of the Ross operation. (11383227)
2001
45
Hemodynamic rounds series II: low-gradient aortic valve stenosis. (9488558)
1998
46
Sequential development of fetal aortic valve stenosis and endocardial fibroelastosis during the second trimester of pregnancy. (9141387)
1997
47
Hemodynamic changes pre- and post-pacing with complete heart block and aortic valve stenosis and regurgitation. (8808078)
1996
48
Pathology of aortic valve stenosis and pure aortic regurgitation: a clinical morphologic assessment--Part II. (8168282)
1994
49
Incidence and prognosis of congenital aortic valve stenosis in Liverpool (1960-1990). (8457400)
1993
50
Reduced left ventricular size and endocardial fibroelastosis as correlates of mortality in newborns and young infants with severe aortic valve stenosis. (6672782)
1983

Genetic Variations for Aortic Valve Stenosis

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Expression for genes affiliated with Aortic Valve Stenosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 53Reactome, 49PharmGKB, 37NCBI BioSystems Database
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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

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Sources:
11DrugBank, 28IUPHAR, 44Novoseek, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1Levobunolol1110.8ADRB1, ADRB2
2cicloprolol2810.8ADRB2, ADRB1
3lk 204-5452810.8ADRB1, ADRB2
4nihp2810.8ADRB2, ADRB1
5Metipranolol1110.8ADRB2, ADRB1
6nip2810.8ADRB2, ADRB1
7Pirbuterol1110.8ADRB2, ADRB1
8sr59230a2810.8ADRB1, ADRB2
9cgp 1217728 4411.8ADRB1, ADRB2
10isoprenaline2810.8ADRB1, ADRB2
11Erythrityl Tetranitrate1110.8NPR1, NPR2
12[125i]icyp2810.8ADRB2, ADRB1
13dopexamine4410.8ADRB1, ADRB2
14Arbutamine1110.8ADRB2, ADRB1
15Bevantolol1110.8ADRB2, ADRB1
16bupranolol28 44 1112.8ADRB2, ADRB1
17Oxprenolol1110.8ADRB1, ADRB2
18nadolol44 28 1112.8ADRB1, ADRB2
19icyp4410.8ADRB2, ADRB1
20Nesiritide1110.8NPR1, NPR2
21penbutolol44 1111.8ADRB1, ADRB2
22noradrenaline2810.8ADRB1, ADRB2
23zinterol44 2811.8ADRB1, ADRB2
24sotalol44 1111.7ADRB1, ADRB2
25carteolol44 1111.7ADRB2, ADRB1
26Acebutolol1110.7ADRB2, ADRB1
27timolol44 28 49 1113.7ADRB1, ADRB2
28alprenolol44 28 1112.7ADRB2, ADRB1
29Bopindolol1110.7ADRB1, ADRB2
30guanylate4410.7NPPC, ADRB1, NPR1, NPR2
31bucindolol49 4411.7ADRB1, ADRB2
32c-type natriuretic peptide (1-22) (human, rat, swine)5910.7NPR2, NPR1
33brain natriuretic peptide (1-32) (human)5910.7NPR1, NPR2
34betaxolol44 28 1112.7ADRB1, ADRB2
35atrial natriuretic factor (1-28) (rat)5910.7NPR1, NPR2
36forskolin44 49 1112.7NPPC, NPR1, ADRB2, ADRB1
37labetalol44 1111.6ADRB1, ADRB2
38atrial natriuretic factor (1-28) (human, porcine)5910.6NPR1, NPR2
39nebivolol44 1111.6ADRB2, ADRB1
40urodilatin4410.6NPPC, NPR1
41bisoprolol44 49 1112.6ADRB2, ADRB1
42dexamethasone44 49 28 1113.5BGN, NPR2, NPPC, DLX5, ADRB1, ADRB2
43pseudoephedrine44 11 2412.5ADRB2, ADRB1
44nitric oxide44 11 2412.5ACE2, ADRB1, AGER, JAG1, NPPC, NPR2
45dobutamine44 28 1112.5ADRB1, ADRB2
46clenbuterol44 1111.5ADRB1, ADRB2
47pindolol44 28 1112.4ADRB2, ADRB1
48Ephedra1110.4ADRB2, ADRB1
49Droxidopa1110.3ADRB2, ADRB1
50glucose449.9AGER, ADRB2, ADRB1, NPPC, PLTP, AHSG

GO Terms for genes affiliated with Aortic Valve Stenosis

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16Gene Ontology
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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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Sources for Aortic Valve Stenosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet