MCID: ART070
MIFTS: 55

Aortic Valve Disease malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Aortic Valve Disease

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MalaCards based summary: Aortic Valve Disease, also known as familial bicuspid aortic valve, is related to aortic valve stenosis and congestive heart failure. An important gene associated with Aortic Valve Disease is SMAD6 (SMAD family member 6), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and TGF Beta Signaling Pathway. The compounds ramipril and titanium have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and lung, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Descriptions from OMIM:46 109730,614823

Aliases & Classifications for Aortic Valve Disease

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Sources:
8Disease Ontology, 9diseasecard, 22GTR, 44Novoseek, 48Orphanet, 62UMLS, 27ICD9CM, 46OMIM, 26ICD10 via Orphanet, 25ICD10
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Related Diseases for Aortic Valve Disease

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Diseases in the Aortic Valve Insufficiency family:

aortic valve disease Aortic Valve Disease 1
Aortic Valve Disease 2 Congenital Aortic Valve Insufficiency
Aortic Valve Dysplasia

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1aortic valve stenosis30.5MYL4, LECT1, SPP1, NPPB, TNC
2congestive heart failure30.4NPPB, FABP3, HMGCR
3type 2 diabetes mellitus29.7GGT1, INS, LPA, HMGCR
4hypertension29.6NPPB, GGT1, INS, LPA, NOTCH1
5atherosclerosis29.1INS, LECT1, LPA, HMGCR, GGT1, EGR1
6diabetes mellitus29.1NPPB, LPA, GGT1, HMGCR, SIRT1, INS
7tendinitis10.5TNC
8gallbladder disease10.4GGT1
9fascioliasis10.4GGT1
10dentinogenesis imperfecta10.4SPP1
11aortic valve disease 110.4
12heart valve disease10.4NPPB, LECT1
13angiodysplasia10.3
14aortic valve disease 210.3
15myocarditis10.3NPPB
16pulmonary embolism10.3FABP3, NPPB
17chondrosarcoma10.3LECT1, RUNX2, TNC
18hematologic cancer10.2NOTCH1, EGR1, HMGCR
19biliary atresia10.2GGT1, SPP1
20hyperphosphatemia10.2RUNX2, SPP1, SLC20A1
21idiopathic edema10.2NPPB, INS
22pleomorphic adenoma10.2LECT1, TNC
23aortic valve insufficiency10.2
24cornelia de lange syndrome10.2
25rheumatic disease10.2
26eating disorder10.2INS, NPPB
27malignant glioma10.2EGR1, TNC, NOTCH1
28osteoporosis10.2RUNX2, HMGCR, SPP1
29alagille syndrome10.2LPA, NOTCH1
30sudden cardiac death multi-gene panels10.2NPPB, HMGCR
31cork-handlers' disease10.1NPPB, TNC, EGR1
32myeloma10.1NOTCH1, RB1, SPP1
33oral cancer10.1GGT1, RB1, TNC
34hyperlipidemia type 310.1LPA, HMGCR
35bone cancer10.1SPP1, RB1, RUNX2
36fatty liver disease10.1INS, HMGCR, GGT1
37peripheral vascular disease10.1LPA, HMGCR
38brain cancer10.1RB1, TNC, NOTCH1, EGR1
39aortic atherosclerosis10.1
40thoracic aortic aneurysm10.1
41aortic aneurysm10.1
42mitral valve disease10.1
43retinoblastoma10.1
44turner syndrome10.1
45aortic coarctation10.1
46deficiency of interleukin-1 receptor antagonist10.1
47aneurysm10.1
48endotheliitis10.1
49familial combined hyperlipidemia10.0HMGCR, INS
50familial hypercholesterolemia10.0HMGCR, LPA

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



Diseases related to aortic valve disease

Symptoms for Aortic Valve Disease

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Clinical features from OMIM:

109730,614823

Drugs & Therapeutics for Aortic Valve Disease

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Drug clinical trials:

Search ClinicalTrials for Aortic Valve Disease

Search NIH Clinical Center for Aortic Valve Disease

Genetic Tests for Aortic Valve Disease

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Genetic tests related to Aortic Valve Disease:

id Genetic test Affiliating Genes
1 Aortic Valve Disorder22

Anatomical Context for Aortic Valve Disease

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MalaCards organs/tissues related to Aortic Valve Disease:

32
Heart, Bone, Lung, Endothelial

Animal Models for Aortic Valve Disease or affiliated genes

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MGI Mouse Phenotypes related to Aortic Valve Disease:

36 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1NOTCH1, GATA5, SIRT1, INS, SPP1
2MP:00053818.8RUNX2, INS, SIRT1, GATA5, NOTCH1, RB1
3MP:00053698.3RUNX2, SPP1, INS, SMAD6, FABP3, GATA5
4MP:00020068.3SPP1, SIRT1, NOTCH1, RB1, EGR1
5MP:00053888.3RUNX2, SPP1, SIRT1, NOTCH1, RB1, EGR1
6MP:00028737.7INS, LECT1, TNC, SIRT1, HMGCR, NOTCH1
7MP:00053797.6RUNX2, INS, SIRT1, GATA5, NOTCH1, RB1
8MP:00036317.6RUNX2, SPP1, INS, TNC, SIRT1, NOTCH1
9MP:00053897.5RUNX2, SPP1, INS, SIRT1, GATA5, RB1
10MP:00053867.5SPP1, INS, TNC, FABP3, SIRT1, RB1
11MP:00053707.3RUNX2, SPP1, INS, FABP3, SIRT1, NOTCH1
12MP:00053847.2RUNX2, SPP1, INS, SIRT1, GATA5, NOTCH1
13MP:00053917.1RUNX2, INS, LECT1, FABP3, SIRT1, NOTCH1
14MP:00053786.8RUNX2, SPP1, INS, SIRT1, NOTCH1, RB1
15MP:00107716.8FABP3, INS, SPP1, RUNX2, SIRT1, NOTCH1
16MP:00053906.6RUNX2, SPP1, INS, LECT1, GATA5, NOTCH1
17MP:00053856.6FABP3, SMAD6, INS, SPP1, RUNX2, SIRT1
18MP:00053976.4LECT1, INS, SPP1, RUNX2, SIRT1, NOTCH1
19MP:00053876.2RUNX2, SPP1, INS, LECT1, SIRT1, GATA5
20MP:00107686.1FABP3, SMAD6, INS, SPP1, RUNX2, SIRT1
21MP:00053765.6SLC20A1, RUNX2, SPP1, INS, SMAD6, LECT1

Publications for Aortic Valve Disease

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Articles related to Aortic Valve Disease:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Early hemodynamic performance of the trifecta bioprosthetic valve in patients with aortic valve disease. (24717287)
2014
2
Surgical approach to aortic valve disease with concomitant dilation of the proximal aorta: the authors' response. (24630232)
2014
3
Molecular biology of calcific aortic valve disease: towards new pharmacological therapies. (24857537)
2014
4
Advances in the treatment of aortic valve disease: is it time for companion diagnostics? (25089943)
2014
5
Calcific aortic valve disease: a consensus summary from the alliance of investigators on calcific aortic valve disease. (25189570)
2014
6
Clinical characteristics and outcomes with rivaroxaban vs. warfarin in patients with non-valvular atrial fibrillation but underlying native mitral and aortic valve disease participating in the ROCKET AF trial. (25148838)
2014
7
Mixed aortic valve disease in the young: initial observations. (24563072)
2014
8
Basic mechanisms of calcific aortic valve disease. (25085215)
2014
9
Early development of calcific aortic valve disease and left ventricular hypertrophy in a mouse model of combined dyslipidemia and type 2 diabetes mellitus. (25231636)
2014
10
Surgical approach to aortic valve disease with concomitant dilation of the proximal aorta. (24630223)
2014
11
Treating the patients in the 'grey-zone' with aortic valve disease: a comparison among conventional surgery, sutureless valves and transcatheter aortic valve replacement. (25320140)
2014
12
Aortic valve disease. (24898790)
2014
13
Trileaflet aortic valve commissural fusion: a rare cause of aortic valve disease and systolic ejection sounds. (24899220)
2014
14
A 16-year experience in minimally invasive aortic valve replacement: context for the changing management of aortic valve disease. (24758946)
2014
15
TGF-I^ mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse model of aortic valve disease. (25056700)
2014
16
P2Y2 receptor represses IL-6 expression by valve interstitial cells through Akt: implication for calcific aortic valve disease. (24631773)
2014
17
Bicuspid aortic valve disease and lipoprotein(a)--a concept worth exploring? (24746505)
2014
18
Transcatheter aortic valve replacement with a balloon-expandable valve for the treatment of noncalcified bicuspid aortic valve disease. (24774600)
2014
19
Tirone David procedure for bicuspid aortic valve disease: impact of root geometry and valve type on mid-term outcomes. (24903440)
2014
20
Impact of wait times on the effectiveness of transcatheter aortic valve replacement in severe aortic valve disease: a discrete event simulation model. (25047363)
2014
21
Heritable retinoblastoma and accelerated aortic valve disease. (23595191)
2013
22
Anti-correlation between longevity gene SirT1 and Notch signaling in ascending aorta biopsies from patients with bicuspid aortic valve disease. (22370592)
2013
23
From the National Heart, Lung, and Blood Institute (NHLBI): researchers find gene variant linked to aortic valve disease. (23914433)
2013
24
Endothelial nitric oxide signaling regulates Notch1 in aortic valve disease. (23583836)
2013
25
Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. (22641149)
2012
26
Analysis of osteopontin levels for the identification of asymptomatic patients with calcific aortic valve disease. (22093695)
2012
27
Inhibitory role of Notch1 in calcific aortic valve disease. (22110751)
2011
28
Aortic valve disease and gamma-glutamyltransferase: accumulation in tissue and relationships with calcific degeneration. (20850749)
2010
29
Statins therapy for calcific aortic valve disease: yes, but not all. (20456868)
2010
30
Deficiency of interleukin-1 receptor antagonist induces aortic valve disease in BALB/c mice. (20110570)
2010
31
Molecular mechanisms underlying the onset of degenerative aortic valve disease. (18766323)
2009
32
Natural history of aortic valve disease following intervention for rheumatic mitral valve disease. (19301554)
2009
33
Calcific aortic valve disease and aortic atherosclerosis--two faces of the same disease? (21179913)
2009
34
Noncollagenous bone matrix proteins as a part of calcific aortic valve disease regulation. (18701137)
2008
35
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. (17662764)
2007
36
Predictive value of heart-type fatty acid-binding protein for left ventricular remodelling and clinical outcome of hypertensive patients with mild-to-moderate aortic valve diseases. (17392813)
2007
37
Molecular genetics of aortic valve disease. (16601454)
2006
38
Role of statins and angiotension-converting enzyme inhibitors in calcific aortic valve disease. (19057055)
2006
39
Role of statins in aortic valve disease. (17448427)
2006
40
Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: linking altered Notch signaling to aortic valve disease. (16697932)
2006
41
Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. (15781428)
2005
42
Mutations in NOTCH1 cause aortic valve disease. (16025100)
2005
43
Extracellular matrix remodelling in human aortic valve disease: the role of matrix metalloproteinases and their tissue inhibitors. (15827062)
2005
44
Transcription factor Egr-1 in calcific aortic valve disease. (15597579)
2004
45
Single-stage treatment of aortic coarctation and aortic valve disease. (14514549)
2003
46
Prognostic importance of insulin-mediated glucose uptake in aged patients with congestive heart failure secondary to mitral and/or aortic valve disease. (10235092)
1999
47
A prospective controlled evaluation of endoscopic detection of angiodysplasia and its association with aortic valve disease. (8566626)
1995
48
Angiodysplasia and aortic valve disease: let's close the book on this association. (8566646)
1995
49
Hemodynamic performance and myosin light chain-1 expression of the hypertrophied left ventricle in aortic valve disease before and after valve replacement. (1533180)
1992
50
Gastrointestinal angiodysplasia associated with aortic valve disease: part of a spectrum of angiodysplasia of the gut. (312746)
1979

Variations for Aortic Valve Disease

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Expression for genes affiliated with Aortic Valve Disease

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Expression patterns in normal tissues for genes affiliated with Aortic Valve Disease

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Pathways for genes affiliated with Aortic Valve Disease

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Compounds for genes affiliated with Aortic Valve Disease

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

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1ramipril44 1110.9NPPB, INS, HMGCR
2titanium449.9RUNX2, SPP1, TNC
3procollagen449.7RUNX2, NPPB, TNC, SPP1
4foscarnet44 1110.7SLC20A1, SPP1, RUNX2
5gemfibrozil28 44 1111.7LPA, INS, HMGCR
6amiodarone44 50 28 1112.6NPPB, HMGCR, GGT1
7p003449.6RB1, FABP3, NPPB, TNC
8niacin44 1110.6LPA, HMGCR, INS
9bezafibrate44 28 1111.4INS, HMGCR, GGT1, LPA
10p002449.3NPPB, RB1, LPA, FABP3, TNC
11lovastatin44 50 61 28 1113.2LPA, GGT1, RB1, HMGCR
12ursodeoxycholic acid44 24 1111.2HMGCR, GGT1, LPA
13thyroxine44 2410.1LPA, NPPB, GGT1, INS, HMGCR
14uric acid44 2410.1LPA, SPP1, INS, GGT1, NPPB
15tgf beta1449.1SMAD6, SPP1, EGR1, RUNX2, TNC
16fatty acid449.1SIRT1, RUNX2, INS, LPA, FABP3, NPPB
171,25 dihydroxy vitamin d3449.0RUNX2, EGR1, RB1, SPP1
18lactate448.9HMGCR, INS, FABP3, NPPB, GGT1, SPP1
19heparin44 28 24 1111.8HMGCR, TNC, SPP1, LPA, GGT1, NPPB
20matrigel448.8RB1, SPP1, EGR1, NOTCH1, TNC
21troglitazone44 28 61 1111.8SPP1, INS, HMGCR, RB1, EGR1
22sb 20358044 619.7RUNX2, RB1, SPP1, EGR1, NPPB
23fibrinogen448.7INS, SPP1, LPA, TNC, EGR1
24rapamycin448.7INS, HMGCR, NOTCH1, EGR1, RB1
25genistein44 28 61 2 24 1113.7SPP1, RB1, NOTCH1, EGR1, NPPB
26cycloheximide448.6RUNX2, SPP1, HMGCR, EGR1, TNC
27cyclosporin a44 28 6110.5EGR1, SPP1, HMGCR, NPPB, RB1
28cholesterol44 28 24 1111.4GGT1, SPP1, RB1, INS, FABP3, HMGCR
29tacrolimus44 50 1110.4NPPB, EGR1, GGT1, INS, SPP1, HMGCR
30ly294002448.4RUNX2, SPP1, EGR1, NOTCH1, TNC, INS
31superoxide44 249.3LPA, EGR1, NPPB, RB1, SPP1
32oxygen44 249.2SPP1, RB1, SIRT1, NOTCH1, NPPB, EGR1
33actinomycin d448.2HMGCR, RB1, NPPB, EGR1, TNC, LPA
34arginine448.2HMGCR, LPA, INS, SLC20A1, GGT1, NPPB
35glutamate448.2EGR1, GGT1, INS, SPP1, TNC, NOTCH1
36nitric oxide44 24 1110.2RB1, NOTCH1, SIRT1, LPA, EGR1, RUNX2
37testosterone44 61 24 1111.1GGT1, SPP1, INS, RB1, NPPB, EGR1
38phosphatidylinositol448.1NOTCH1, TNC, EGR1, NPPB, RB1, INS
39retinoic acid44 248.9RUNX2, SPP1, TNC, NOTCH1, EGR1, RB1
40creatinine447.9HMGCR, INS, SPP1, FABP3, MYL4, NPPB
41cysteine447.6LPA, TNC, SPP1, NPPB, HMGCR, GGT1
42tyrosine447.6RB1, EGR1, NOTCH1, RUNX2, SPP1, NPPB
43h2o2447.6RB1, HMGCR, EGR1, SIRT1, LPA, GGT1
44estrogen447.4RUNX2, SPP1, INS, LPA, SIRT1, NOTCH1
45dexamethasone44 50 28 1110.3SPP1, INS, RUNX2, TNC, HMGCR, NOTCH1
46serine447.3GGT1, RUNX2, SPP1, INS, TNC, HMGCR
47vegf447.2NOTCH1, EGR1, RB1, NPPB, LPA, SPP1
48glucose447.1GGT1, NPPB, EGR1, RUNX2, SIRT1, LPA
49calcium44 50 24 119.9SLC20A1, EGR1, RB1, NOTCH1, LPA, TNC
50lipid445.8RB1, EGR1, NPPB, GGT1, NOTCH1, HMGCR

GO Terms for genes affiliated with Aortic Valve Disease

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.5EGR1, RB1, NOTCH1, GATA5, SIRT1
2extracellular regionGO:0055767.9NPPB, SPP1, INS, LECT1, TNC, LPA

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1prostate gland epithelium morphogenesisGO:06074010.3NOTCH1, TNC
2negative regulation of vasodilationGO:04590810.2HMGCR, INS
3cellular response to BMP stimulusGO:07177310.1GATA5, RUNX2
4positive regulation of insulin receptor signaling pathwayGO:04662810.1INS, SIRT1
5negative regulation of intrinsic apoptotic signaling pathway in response to oxidative stressGO:190217610.0INS, SIRT1
6fatty acid homeostasisGO:05508910.0INS, SIRT1
7myoblast differentiationGO:0454459.9RB1, HMGCR
8negative regulation of smoothened signaling pathwayGO:0458799.8RB1, RUNX2
9cellular response to follicle-stimulating hormone stimulusGO:0713729.7EGR1, NOTCH1
10BMP signaling pathwayGO:0305099.5RUNX2, SMAD6, EGR1
11positive regulation of cell proliferationGO:0082849.4NOTCH1, SIRT1, TNC, INS, RUNX2
12regulation of mitotic cell cycleGO:0073469.4RB1, SIRT1
13T cell differentiationGO:0302179.4EGR1, RUNX2
14response to ethanolGO:0454719.4EGR1, HMGCR, TNC
15skeletal muscle cell differentiationGO:0359149.3NOTCH1, RB1, EGR1
16negative regulation of transcription, DNA-templatedGO:0458929.3RUNX2, SIRT1, NOTCH1, RB1
17positive regulation of transcription, DNA-templatedGO:0458938.7RUNX2, NOTCH1, RB1, EGR1
18positive regulation of transcription from RNA polymerase II promoterGO:0459448.6SIRT1, GATA5, NOTCH1, RB1, EGR1

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

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:0434259.6RUNX2, SIRT1
2sequence-specific DNA binding transcription factor activityGO:0037008.3EGR1, RB1, NOTCH1, GATA5, SMAD6, RUNX2
3protein bindingGO:0055156.9INS, SMAD6, FABP3, SIRT1, HMGCR, NOTCH1

Products for genes affiliated with Aortic Valve Disease

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Sources for Aortic Valve Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet