MCID: ART101
MIFTS: 32

Aortic Valve Disease 2 malady

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

Aliases & Classifications for Aortic Valve Disease 2

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Sources:
45OMIM, 10diseasecard, 60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 55SNOMED-CT, 33MeSH, 27ICD9CM, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Summaries for Aortic Valve Disease 2

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NIH Rare Diseases:41 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 based summary: Aortic Valve Disease 2, also known as aortic valve stenosis, is related to leukemia and subvalvular aortic stenosis, and has symptoms including autosomal dominant inheritance, bicuspid aortic valve and coarctation of aorta. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD family member 6). Affiliated tissues include heart.

Disease Ontology:9 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

Description from OMIM:45 614823

Related Diseases for Aortic Valve Disease 2

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Graphical network of the top 20 diseases related to Aortic Valve Disease 2:



Diseases related to aortic valve disease 2

Symptoms for Aortic Valve Disease 2

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Symptoms by clinical synopsis from OMIM:

614823

Clinical features from OMIM:

614823

HPO human phenotypes related to Aortic Valve Disease 2:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 bicuspid aortic valve HP:0001647
3 coarctation of aorta HP:0001680
4 calcification of the aorta HP:0004963

Drugs & Therapeutics for Aortic Valve Disease 2

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Drug clinical trials:

Search ClinicalTrials for Aortic Valve Disease 2

Search NIH Clinical Center for Aortic Valve Disease 2

Genetic Tests for Aortic Valve Disease 2

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Anatomical Context for Aortic Valve Disease 2

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MalaCards organs/tissues related to Aortic Valve Disease 2:

31
Heart

Animal Models for Aortic Valve Disease 2 or affiliated genes

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Publications for Aortic Valve Disease 2

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Variations for Aortic Valve Disease 2

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UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 2:

62
id Symbol AA change Variation ID SNP ID
1SMAD6p.Pro415LeuVAR_068075
2SMAD6p.Cys484PheVAR_068076

Clinvar genetic disease variations for Aortic Valve Disease 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD6NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe)single nucleotide variantPathogenicrs387907283GRCh37Chr 15, 67073833: 67073833
2SMAD6NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu)single nucleotide variantPathogenicrs387907284GRCh37Chr 15, 67073626: 67073626

Expression for genes affiliated with Aortic Valve Disease 2

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Search GEO for disease gene expression data for Aortic Valve Disease 2.

Pathways for genes affiliated with Aortic Valve Disease 2

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Compounds for genes affiliated with Aortic Valve Disease 2

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GO Terms for genes affiliated with Aortic Valve Disease 2

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Products for genes affiliated with Aortic Valve Disease 2

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

Sources for Aortic Valve Disease 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet