MCID: ART095
MIFTS: 13

Aortic Valve Atresia

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Aortic Valve Atresia

Summaries for Aortic Valve Atresia

MalaCards based summary : Aortic Valve Atresia is related to ventricular septal defect and transposition of the great arteries. An important gene associated with Aortic Valve Atresia is FOXP1 (Forkhead Box P1). Affiliated tissues include heart.

Related Diseases for Aortic Valve Atresia

Diseases related to Aortic Valve Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 10.1
2 transposition of the great arteries 10.1
3 aortic valve disease 2 9.9
4 heart disease 9.9
5 lymphangiectasis 9.9

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



Diseases related to Aortic Valve Atresia

Symptoms & Phenotypes for Aortic Valve Atresia

Drugs & Therapeutics for Aortic Valve Atresia

Search Clinical Trials , NIH Clinical Center for Aortic Valve Atresia

Genetic Tests for Aortic Valve Atresia

Anatomical Context for Aortic Valve Atresia

MalaCards organs/tissues related to Aortic Valve Atresia:

42
Heart

Publications for Aortic Valve Atresia

Articles related to Aortic Valve Atresia:

(show all 14)
# Title Authors Year
1
Elusive Taussig-Bing anomaly/aortic valve atresia: a rare case of congenital heart disease-correlation of fetal and neonatal echo images and direct anatomical photographs. ( 30600439 )
2019
2
First successful repair of an aortico-to-right ventricular tunnel (ARVT) in d-transposition of the great arteries with aortic valve atresia and ventricular septal defect. ( 25645097 )
2015
3
Aortic valve atresia or severe hypoplasia and ventricular septal defect: surgical strategies for biventricular repair and mid-term results. ( 25667116 )
2015
4
An isolated left common carotid artery from the main pulmonary artery in a neonate with aortic valve atresia. ( 25928632 )
2015
5
Outcomes after the Norwood operation in neonates with critical aortic stenosis or aortic valve atresia. ( 12771881 )
2003
6
Premature closure of the foramen ovale and congenital pulmonary cystic lymphangiectasis in aortic valve atresia or in severe aortic valve stenosis. ( 3953463 )
1986
7
Functional aortic valve atresia in transposition of the great arteries. ( 4031275 )
1985
8
Ultrasonic recognition of aortic valve atresia in utero. ( 6695759 )
1984
9
Quantitative angiographic and morphologic aspects of aortic valve atresia. ( 6858879 )
1983
10
Aortic valve atresia with a normally developed left ventricle. ( 1244270 )
1976
11
Aortic valve atresia: a new classification based on necropsy study of 73 cases. ( 1266741 )
1976
12
Coexistent mitral and aortic valve atresia with intact ventricular septum in sibs. ( 4274758 )
1974
13
Hemodynamics of aortic valve atresia. ( 5477263 )
1970
14
Aortic-valve atresia. Report of 43 cases. ( 14005284 )
1962

Variations for Aortic Valve Atresia

ClinVar genetic disease variations for Aortic Valve Atresia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh37 Chromosome 3, 71019907: 71019907
2 FOXP1 NM_032682.5(FOXP1): c.1702C> T (p.Pro568Ser) single nucleotide variant Benign/Likely benign, association rs147674680 GRCh38 Chromosome 3, 70970756: 70970756

Expression for Aortic Valve Atresia

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

Pathways for Aortic Valve Atresia

GO Terms for Aortic Valve Atresia

Sources for Aortic Valve Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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