MCID: ART070
MIFTS: 54

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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47OMIM, 33MalaCards
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MalaCards: Aortic Valve Disease is related to aortic valve stenosis and congestive heart failure. An important gene associated with Aortic Valve Disease is NOTCH1 (notch 1), 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 and bone, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Description from OMIM:47 109730

Aliases & Classifications for Aortic Valve Disease

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8Disease Ontology, 9diseasecard, 22GTR, 47OMIM, 45Novoseek, 27ICD9CM, 62UMLS
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Classifications:



Aliases & Descriptions:

aortic valve disease 8 9 22 47 45


External Ids:

Disease Ontology8 DOID:62
ICD9CM27 395.9

Related Diseases for Aortic Valve Disease

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17GeneCards, 18GeneDecks
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Diseases in the Aortic Valve Insufficiency family:

aortic valve disease 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1aortic valve stenosis30.5MYL4, LECT1, SPP1, NPPB, TNC
2congestive heart failure30.1NPPB, FABP3, HMGCR
3hypertension30.0NPPB, GGT1, INS, LPA, NOTCH1
4atherosclerosis29.8INS, LECT1, LPA, HMGCR, GGT1, EGR1
5angiodysplasia10.3
6cornelia de lange syndrome10.2
7aortic valve insufficiency10.2
8aortic valve disease 210.2
9rheumatic disease10.2
10left ventricular outflow tract obstruction10.1NOTCH1
11tendinitis10.1TNC
12gallbladder disease10.1GGT1
13fascioliasis10.1GGT1
14dentinogenesis imperfecta10.1SPP1
15heart valve disease10.1NPPB, LECT1
16myocarditis10.1NPPB
17pulmonary embolism10.1FABP3, NPPB
18chondrosarcoma10.1LECT1, RUNX2, TNC
19hematologic cancer10.1NOTCH1, EGR1, HMGCR
20biliary atresia10.1GGT1, SPP1
21aortic atherosclerosis10.1
22thoracic aortic aneurysm10.1
23aortic aneurysm10.1
24mitral valve disease10.1
25retinoblastoma10.1
26turner syndrome10.1
27aortic coarctation10.1
28deficiency of interleukin-1 receptor antagonist10.1
29aneurysm10.1
30hyperphosphatemia10.1RUNX2, SPP1, SLC20A1
31idiopathic edema10.1NPPB, INS
32pleomorphic adenoma10.0LECT1, TNC
33eating disorder10.0INS, NPPB
34malignant glioma10.0EGR1, TNC, NOTCH1
35osteoporosis10.0RUNX2, HMGCR, SPP1
36alagille syndrome10.0LPA, NOTCH1
37sudden cardiac death multi-gene panels10.0NPPB, HMGCR
38cork-handlers' disease10.0NPPB, TNC, EGR1
39myeloma10.0NOTCH1, RB1, SPP1
40oral cancer10.0GGT1, RB1, TNC
41hyperlipidemia type 310.0LPA, HMGCR
42bone carcinoma10.0SPP1, RB1, RUNX2
43fatty liver disease10.0INS, HMGCR, GGT1
44peripheral vascular disease10.0LPA, HMGCR
45brain cancer10.0RB1, TNC, NOTCH1, EGR1
46familial combined hyperlipidemia10.0HMGCR, INS
47familial hypercholesterolemia10.0HMGCR, LPA
48squamous cell carcinoma of the head and neck10.0SPP1, EGR1, RB1
49hyperuricemia10.0INS, GGT1
50astrocytoma10.0SPP1, TNC, RB1, EGR1

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

109730

Clinical features from OMIM:

109730

Drugs & Therapeutics for Aortic Valve Disease

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Aortic Valve Disease:

33
Heart, Bone

Animal Models for Aortic Valve Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Aortic Valve Disease:

37 (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:00028737.8INS, 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:00053917.2RUNX2, 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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52PubMed
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Articles related to Aortic Valve Disease:

(show all 29)
idTitleAuthorsYear
1
Heritable retinoblastoma and accelerated aortic valve disease. (23595191)
2013
2
High expression of the Pi-transporter SLC20A1/Pit1 in calcific aortic valve disease promotes mineralization through regulation of Akt-1. (23308213)
2013
3
Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. (22641149)
2012
4
Analysis of osteopontin levels for the identification of asymptomatic patients with calcific aortic valve disease. (22093695)
2012
5
Inhibitory role of Notch1 in calcific aortic valve disease. (22110751)
2011
6
Aortic valve disease and gamma-glutamyltransferase: accumulation in tissue and relationships with calcific degeneration. (20850749)
2010
7
Statins therapy for calcific aortic valve disease: yes, but not all. (20456868)
2010
8
Deficiency of interleukin-1 receptor antagonist induces aortic valve disease in BALB/c mice. (20110570)
2010
9
Molecular mechanisms underlying the onset of degenerative aortic valve disease. (18766323)
2009
10
Natural history of aortic valve disease following intervention for rheumatic mitral valve disease. (19301554)
2009
11
Calcific aortic valve disease and aortic atherosclerosis--two faces of the same disease? (21179913)
2009
12
Noncollagenous bone matrix proteins as a part of calcific aortic valve disease regulation. (18701137)
2008
13
Aortic valve disease in Turner syndrome. (18466808)
2008
14
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. (17662764)
2007
15
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
16
Molecular genetics of aortic valve disease. (16601454)
2006
17
Role of statins and angiotension-converting enzyme inhibitors in calcific aortic valve disease. (19057055)
2006
18
Role of statins in aortic valve disease. (17448427)
2006
19
Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: linking altered Notch signaling to aortic valve disease. (16697932)
2006
20
Relation of N-terminal pro B-type natriuretic peptide to progression of aortic valve disease. (15781428)
2005
21
Mutations in NOTCH1 cause aortic valve disease. (16025100)
2005
22
Extracellular matrix remodelling in human aortic valve disease: the role of matrix metalloproteinases and their tissue inhibitors. (15827062)
2005
23
Transcription factor Egr-1 in calcific aortic valve disease. (15597579)
2004
24
Single-stage treatment of aortic coarctation and aortic valve disease. (14514549)
2003
25
Prognostic importance of insulin-mediated glucose uptake in aged patients with congestive heart failure secondary to mitral and/or aortic valve disease. (10235092)
1999
26
A prospective controlled evaluation of endoscopic detection of angiodysplasia and its association with aortic valve disease. (8566626)
1995
27
Angiodysplasia and aortic valve disease: let's close the book on this association. (8566646)
1995
28
Hemodynamic performance and myosin light chain-1 expression of the hypertrophied left ventricle in aortic valve disease before and after valve replacement. (1533180)
1992
29
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Aortic Valve Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1NOTCH1NM_017617.3(NOTCH1): c.3319C> T (p.Arg1107Ter)single nucleotide variantPathogenicrs41309764GRCh37Chr 9, 139402690: 139402690
2NOTCH1NOTCH1, 1-BP DEL, NT4515deletionPathogenic

Expression for genes affiliated with Aortic Valve Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aortic Valve Disease

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

Pathways for genes affiliated with Aortic Valve Disease

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50PathCards, 38NCBI BioSystems Database, 54R&D Systems, 55Reactome, 5Cell Signaling Technology, 60Thomson Reuters, 53QIAGEN
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Compounds for genes affiliated with Aortic Valve Disease

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45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience, 24HMDB, 3BitterDB
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Compounds related to Aortic Valve Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1ramipril45 1110.9NPPB, INS, HMGCR
2titanium459.9RUNX2, SPP1, TNC
3procollagen459.7RUNX2, NPPB, TNC, SPP1
4foscarnet45 1110.7SLC20A1, SPP1, RUNX2
5gemfibrozil29 45 1111.7LPA, INS, HMGCR
6amiodarone45 51 29 1112.6NPPB, HMGCR, GGT1
7p003459.6RB1, FABP3, NPPB, TNC
8niacin45 1110.6LPA, HMGCR, INS
9bezafibrate45 29 1111.4INS, HMGCR, GGT1, LPA
10p002459.3NPPB, RB1, LPA, FABP3, TNC
11lovastatin45 51 61 29 1113.2LPA, GGT1, RB1, HMGCR
12ursodeoxycholic acid45 24 1111.2HMGCR, GGT1, LPA
13thyroxine45 2410.1LPA, NPPB, GGT1, INS, HMGCR
14uric acid45 2410.1LPA, SPP1, INS, GGT1, NPPB
15fatty acid459.1SIRT1, RUNX2, INS, LPA, FABP3, NPPB
16tgf beta1459.1SMAD6, SPP1, EGR1, RUNX2, TNC
171,25 dihydroxy vitamin d3459.0RUNX2, EGR1, RB1, SPP1
18lactate458.9HMGCR, INS, FABP3, NPPB, GGT1, SPP1
19matrigel458.8RB1, SPP1, EGR1, NOTCH1, TNC
20heparin45 29 24 1111.8HMGCR, TNC, SPP1, LPA, GGT1, NPPB
21troglitazone45 29 61 1111.8SPP1, INS, HMGCR, RB1, EGR1
22sb 20358045 619.7RUNX2, RB1, SPP1, EGR1, NPPB
23rapamycin458.7INS, HMGCR, NOTCH1, EGR1, RB1
24fibrinogen458.7INS, SPP1, LPA, TNC, EGR1
25genistein45 29 61 3 24 1113.7SPP1, RB1, NOTCH1, EGR1, NPPB
26cycloheximide458.6RUNX2, SPP1, HMGCR, EGR1, TNC
27cyclosporin a45 29 6110.5EGR1, SPP1, HMGCR, NPPB, RB1
28cholesterol45 29 24 1111.4GGT1, SPP1, RB1, INS, FABP3, HMGCR
29tacrolimus45 51 1110.4NPPB, EGR1, GGT1, INS, SPP1, HMGCR
30ly294002458.4RUNX2, SPP1, EGR1, NOTCH1, TNC, INS
31superoxide45 249.3LPA, EGR1, NPPB, RB1, SPP1
32oxygen45 249.2SPP1, RB1, SIRT1, NOTCH1, NPPB, EGR1
33actinomycin d458.2HMGCR, RB1, NPPB, EGR1, TNC, LPA
34glutamate458.2EGR1, GGT1, INS, SPP1, TNC, NOTCH1
35arginine458.2HMGCR, LPA, INS, SLC20A1, GGT1, NPPB
36nitric oxide45 24 1110.2RB1, NOTCH1, SIRT1, LPA, EGR1, RUNX2
37testosterone45 61 24 1111.1GGT1, SPP1, INS, RB1, NPPB, EGR1
38phosphatidylinositol458.1NOTCH1, TNC, EGR1, NPPB, RB1, INS
39retinoic acid45 248.9RUNX2, SPP1, TNC, NOTCH1, EGR1, RB1
40creatinine457.9HMGCR, INS, SPP1, FABP3, MYL4, NPPB
41cysteine457.6LPA, TNC, SPP1, NPPB, HMGCR, GGT1
42tyrosine457.6RB1, EGR1, NOTCH1, RUNX2, SPP1, NPPB
43h2o2457.6RB1, HMGCR, EGR1, SIRT1, LPA, GGT1
44estrogen457.4RUNX2, SPP1, INS, LPA, SIRT1, NOTCH1
45dexamethasone45 51 29 1110.3SPP1, INS, RUNX2, TNC, HMGCR, NOTCH1
46serine457.3GGT1, RUNX2, SPP1, INS, TNC, HMGCR
47vegf457.2NOTCH1, EGR1, RB1, NPPB, LPA, SPP1
48glucose457.1GGT1, NPPB, EGR1, RUNX2, SIRT1, LPA
49calcium45 51 24 119.9SLC20A1, EGR1, RB1, NOTCH1, LPA, TNC
50lipid455.8RB1, EGR1, NPPB, GGT1, NOTCH1, HMGCR

GO Terms for genes affiliated with Aortic Valve Disease

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16Gene Ontology
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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:0359149.4NOTCH1, 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:0459448.7SIRT1, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet