MCID: ART095
MIFTS: 12

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).

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 lymphangiectasis 9.9

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

Publications for Aortic Valve Atresia

Articles related to Aortic Valve Atresia:

(show all 13)
# Title Authors Year
1
Aortic valve atresia or severe hypoplasia and ventricular septal defect: surgical strategies for biventricular repair and mid-term results. ( 25667116 )
2015
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
An isolated left common carotid artery from the main pulmonary artery in a neonate with aortic valve atresia. ( 25928632 )
2015
4
Outcomes after the Norwood operation in neonates with critical aortic stenosis or aortic valve atresia. ( 12771881 )
2003
5
Premature closure of the foramen ovale and congenital pulmonary cystic lymphangiectasis in aortic valve atresia or in severe aortic valve stenosis. ( 3953463 )
1986
6
Functional aortic valve atresia in transposition of the great arteries. ( 4031275 )
1985
7
Ultrasonic recognition of aortic valve atresia in utero. ( 6695759 )
1984
8
Quantitative angiographic and morphologic aspects of aortic valve atresia. ( 6858879 )
1983
9
Aortic valve atresia: a new classification based on necropsy study of 73 cases. ( 1266741 )
1976
10
Aortic valve atresia with a normally developed left ventricle. ( 1244270 )
1976
11
Coexistent mitral and aortic valve atresia with intact ventricular septum in sibs. ( 4274758 )
1974
12
Hemodynamics of aortic valve atresia. ( 5477263 )
1970
13
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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