MCID: ART115
MIFTS: 28

Aortic Valve Disease 1 malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Fetal diseases categories

Summaries for Aortic Valve Disease 1

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OMIM:47 Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al.,... (109730) more...

MalaCards based summary: Aortic Valve Disease 1, also known as aortic valve disease, is related to endocarditis and double-orifice mitral valve, and has symptoms including autosomal dominant inheritanceand bicuspid aortic valve. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (notch 1). Affiliated tissues include heart.

Wikipedia:65 The aortic valve is one of the two semilunar valves of the heart, the other being the pulmonary valve.... more...

Aliases & Classifications for Aortic Valve Disease 1

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Sources:
47OMIM, 62UMLS, 10Disease Ontology, 11diseasecard, 45Novoseek, 24GTR, 29ICD9CM, 27ICD10
See all sources

Aortic Valve Disease 1, Aliases & Descriptions:

Name: Aortic Valve Disease 1 47 62
Aortic Valve Disease 10 11 45 24
 
Bicuspid Aortic Valve 45


Classifications:



External Ids:

OMIM47 109730
Disease Ontology10 DOID:62
ICD9CM29 395.9
ICD1027 I39.1

Related Diseases for Aortic Valve Disease 1

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Diseases in the Aortic Valve Insufficiency family:

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

Diseases related to Aortic Valve Disease 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1endocarditis10.7
2double-orifice mitral valve10.7
3holt-oram syndrome10.6
4marfan syndrome10.6
5left ventricular noncompaction10.6
6aortic valve disease 210.5
7infective endocarditis10.5
8familial bicuspid aortic valve10.5
9heterotopia, periventricular10.4
10hypoplastic left heart syndrome10.4
11subclavian artery aneurysm10.4
12klippel-feil syndrome10.4
13patent ductus arteriosus10.4
14ventricular septal defect10.4
15cor triatriatum10.4
16transposition of the great arteries10.4
17angiodysplasia10.3
18spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.3
19chromosome 1p36 deletion syndrome10.3
20psychomotor retardation, epilepsy, and craniofacial dysmorphism10.3
21cardiomyopathy, dilated, 1e10.3
22cranioectodermal dysplasia 110.3
23fertile eunuch syndrome10.3
24baraitser-winter syndrome 110.3
25williams-beuren syndrome10.3
26mental retardation, autosomal recessive 4010.3
27polycythemia vera10.3
28multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.3
29noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia10.3
30aortic aneurysm, familial thoracic 410.3
31diamond-blackfan anemia 1110.3
32koolen-de vries syndrome10.3
33chromosome 17q23.1-q23.2 deletion syndrome10.3
34microphthalmia, syndromic 110.3
35myocardial infarction10.3
36loeys-dietz syndrome, type 410.3
37loeys-dietz syndrome, type 210.3
38contractural arachnodactyly, congenital10.3
39congenital heart defects, nonsyndromic, 210.3
40loeys-dietz syndrome, type 110.3
41hypertrichotic osteochondrodysplasia10.3
42microvillus inclusion disease10.3
43dilated cardiomyopathy10.3
44eunuchism10.3
45situs inversus10.3
46mutism10.3
47aortic valve prolapse10.3
48subacute bacterial endocarditis10.3
49q fever10.3
50loeys-dietz syndrome10.3

Graphical network of the top 20 diseases related to Aortic Valve Disease 1:



Diseases related to aortic valve disease 1

Symptoms for Aortic Valve Disease 1

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Symptoms by clinical synopsis from OMIM:

109730

Clinical features from OMIM:

109730

HPO human phenotypes related to Aortic Valve Disease 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 bicuspid aortic valve HP:0001647

Drugs & Therapeutics for Aortic Valve Disease 1

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Drug clinical trials:

Search ClinicalTrials for Aortic Valve Disease 1

Search NIH Clinical Center for Aortic Valve Disease 1

Genetic Tests for Aortic Valve Disease 1

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Genetic tests related to Aortic Valve Disease 1:

id Genetic test Affiliating Genes
1 Aortic Valve Disorder24

Anatomical Context for Aortic Valve Disease 1

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MalaCards organs/tissues related to Aortic Valve Disease 1:

33
Heart

Animal Models for Aortic Valve Disease 1 or affiliated genes

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Publications for Aortic Valve Disease 1

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Variations for Aortic Valve Disease 1

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Clinvar genetic disease variations for Aortic Valve Disease 1:

7
id Gene Variation 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 1

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Search GEO for disease gene expression data for Aortic Valve Disease 1.

Pathways for genes affiliated with Aortic Valve Disease 1

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Compounds for genes affiliated with Aortic Valve Disease 1

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GO Terms for genes affiliated with Aortic Valve Disease 1

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Products for genes affiliated with Aortic Valve Disease 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Aortic Valve Disease 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet