MCID: ART070
MIFTS: 34

Aortic Valve Disease malady

Summaries for Aortic Valve Disease

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46OMIM, 32MalaCards
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MalaCards: Aortic Valve Disease is related to heart valve disease and aortic valve stenosis. An important gene associated with Aortic Valve Disease is NOTCH1 (notch 1), and among its related pathways are TGF Beta Signaling Pathway and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds procollagen and uric acid have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are endocrine/exocrine gland and skeleton.

Description from OMIM:46 109730

Aliases & Classifications for Aortic Valve Disease

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46OMIM, 44Novoseek
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Aliases & Descriptions:

aortic valve disease 46 44


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 92)
idRelated DiseaseScoreTop Affiliating Genes
1heart valve disease30.3NPPB, LECT1
2aortic valve stenosis30.3TNC, LECT1, NPPB, MYL4, SPP1
3congestive heart failure30.0NPPB, HMGCR, FABP3
4hypertension30.0NPPB, INS, NOTCH1, GGT1
5atherosclerosis30.0EGR1, HMGCR, SPP1, INS, LECT1, GGT1
6aortic disease10.8
7mitral valve disease10.4
8angiodysplasia10.3
9cornelia de lange syndrome10.2
10rheumatic aortic valve stenosis10.2
11aortic valve disease 210.2
12rheumatic disease10.2
13rheumatic aortic valve insufficiency10.1
14aortic incompetence10.1
15thoracic aortic aneurysm10.1
16hypertensive heart disease10.1
17aortic atherosclerosis10.1
18aneurysm disease10.1
19aortic aneurysm10.1
20aortic valve insufficiency10.1
21retinoblastoma10.1
22rheumatic disease of mitral valve10.1
23turner syndrome10.1
24dementia10.0FABP3
25colorectal cancer10.0EGR1
26pleomorphic adenoma10.0LECT1
27myocarditis10.0NPPB
28thyroid cancer10.0TNC
29myeloid leukemia10.0EGR1
30morbid obesity10.0INS
31hepatitis10.0GGT1
32cholelithiasis10.0GGT1
33acute myocarditis10.0TNC
34blindness10.0INS
35dilated cardiomyopathy10.0FABP3, NPPB
36acromegaly10.0INS
37pulmonary embolism10.0FABP3, NPPB
38arthritis10.0HMGCR
39cerebrovascular disease10.0HMGCR
40myeloma10.0SPP1, NOTCH1
41uremia10.0SPP1
42endometrial carcinoma10.0TNC
43pheochromocytoma10.0EGR1, TNC
44gallbladder disease10.0GGT1
45glioblastoma multiforme10.0TNC, EGR1
46essential hypertension10.0INS, NPPB
47ovarian cancer10.0NOTCH1, SPP1
48pancreatitis10.0INS, GGT1
49idiopathic edema10.0INS, NPPB
50glomerulonephritis10.0SPP1, EGR1

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



Diseases related to aortic valve disease

Clinical Features for Aortic Valve Disease

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46OMIM
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Clinical features from OMIM:

109730

Clinical synopsis from OMIM:

109730

Drugs & Therapeutics for Aortic Valve Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Aortic Valve Disease

Drug clinical trials:

Search ClinicalTrials for Aortic Valve Disease

Search NIH Clinical Center for Aortic Valve Disease

Search CenterWatch for Aortic Valve Disease

Genetic Tests for Aortic Valve Disease

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Anatomical Context for Aortic Valve Disease

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

32
Heart

Animal Models for Aortic Valve Disease or affiliated genes

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36MGI
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Publications for Aortic Valve Disease

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Genetic Variations for Aortic Valve Disease

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Expression for genes affiliated with Aortic Valve Disease

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1BioGPS, 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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37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Aortic Valve Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2SMAD6
2
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.0SPP1, EGR1, RUNX2

Compounds for genes affiliated with Aortic Valve Disease

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Aortic Valve Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1procollagen4410.6NPPB
2uric acid44 2411.6NPPB
3cycloheximide4410.5RUNX2
4thallium4410.3NPPB, FABP3
5serine4410.3RUNX2, HMGCR
6fibroin4410.2RUNX2, SPP1
7heparin44 28 11 2413.1SPP1, HMGCR
8alizarin4410.0RUNX2, SPP1
9titanium449.9TNC, RUNX2, SPP1
10moxonidine449.9INS, NPPB
11ramipril44 1110.8NPPB, INS, HMGCR
12matrigel449.8EGR1, NOTCH1
13amiodarone44 49 28 1112.7HMGCR, NPPB, GGT1
14foscarnet44 1110.7SPP1, SLC20A1, RUNX2
15bezafibrate44 28 1111.5INS, GGT1, HMGCR
16pioglitazone44 49 28 1112.5GGT1, INS, NPPB
17hydroxyapatite449.3SPP1, EGR1, RUNX2
18ascorbic acid44 2410.3RUNX2, TNC, GGT1, SPP1
19p003449.3TNC, FABP3, NPPB
20thyroxine44 2410.3NPPB, GGT1, HMGCR, INS
21valproic acid44 49 11 2412.2RUNX2, GGT1, SPP1
22glucose449.2RUNX2, FABP3, NPPB, EGR1
231,25 dihydroxy vitamin d3449.0EGR1, SPP1, RUNX2
24sb 20358044 5910.0SPP1, EGR1, NPPB, RUNX2
25troglitazone44 28 59 1111.9SPP1, HMGCR, INS, EGR1
26tgf beta1448.9TNC, SPP1, RUNX2, SMAD6, EGR1
27epinephrine44 11 2410.9EGR1, INS, HMGCR, NPPB
28haloperidol44 28 2 49 1112.9GGT1, EGR1, NPPB
29norepinephrine44 11 2410.9INS, FABP3, EGR1, NPPB
30rapamycin448.8NOTCH1, HMGCR, INS, EGR1
31fibrinogen448.8TNC, EGR1, INS, SPP1
32cholesterol44 28 11 2411.8SPP1, HMGCR, FABP3, INS, GGT1
33indomethacin44 59 28 1111.8SPP1, GGT1, EGR1, NPPB
34actinomycin d448.7HMGCR, EGR1, TNC, NPPB, SPP1
35lactate448.7NPPB, SPP1, GGT1, HMGCR, INS, FABP3
36wortmannin448.6INS, TNC, EGR1, SPP1
37ly294002448.5RUNX2, TNC, EGR1, INS, NOTCH1, SPP1
38h2o2448.4TNC, EGR1, HMGCR, GGT1, SPP1
39testosterone44 59 11 2411.3SPP1, NPPB, GGT1, INS, EGR1
40dexamethasone44 49 28 1111.3NPPB, EGR1, INS, NOTCH1, SPP1, GGT1
41arginine448.3SPP1, NPPB, INS, HMGCR, SLC20A1, GGT1
42creatinine448.2MYL4, SPP1, GGT1, HMGCR, INS, FABP3
43phosphatidylinositol448.2SPP1, EGR1, NPPB, TNC, RUNX2, INS
44estrogen448.2INS, EGR1, NOTCH1, SPP1, NPPB, TNC
45tacrolimus44 49 1110.1NPPB, EGR1, INS, HMGCR, SPP1, GGT1
46cysteine448.1TNC, NPPB, EGR1, GGT1, SPP1, HMGCR
47vegf447.7NPPB, SPP1, HMGCR, LECT1, EGR1, NOTCH1
48tyrosine447.7NOTCH1, TNC, NPPB, FABP3, RUNX2, EGR1
49calcium44 49 11 2410.4SPP1, TNC, NPPB, EGR1, MYL4, NOTCH1
50lipid446.5TNC, SPP1, GGT1, RUNX2, LECT1, NOTCH1

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
1extracellular regionGO:0055768.3SPP1, NOTCH1, LECT1, INS, NPPB, TNC

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

idNameGO IDScoreTop Affiliating Genes
1prostate gland epithelium morphogenesisGO:0607409.8TNC, NOTCH1
2negative regulation of vasodilationGO:0459089.8HMGCR, INS
3cellular response to BMP stimulusGO:0717739.6GATA5, RUNX2
4cellular response to follicle-stimulating hormone stimulusGO:0713729.4NOTCH1, EGR1
5positive regulation of cell proliferationGO:0082849.2NOTCH1, INS, TNC, RUNX2
6BMP signaling pathwayGO:0305099.2SMAD6, EGR1, RUNX2

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.7SMAD6, GATA5, RUNX2
2sequence-specific DNA binding transcription factor activityGO:0037008.3SMAD6, NOTCH1, EGR1, GATA5, RUNX2

Products for genes affiliated with Aortic Valve Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet