ASD4
MCID: ATR031
MIFTS: 32

Atrial Septal Defect 4 (ASD4)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 4

MalaCards integrated aliases for Atrial Septal Defect 4:

Name: Atrial Septal Defect 4 56 12 73 29 13 6 71
Asd4 56 12 73
Atrial Heart Septal Defect 4 12 15
Septal Defect, Atrial, Type 4 39

Characteristics:

HPO:

31
atrial septal defect 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110109
OMIM 56 611363
OMIM Phenotypic Series 56 PS108800
MeSH 43 D006344
ICD10 32 Q21.1
MedGen 41 C1969657
SNOMED-CT via HPO 68 204317008 263681008 7305005
UMLS 71 C1969657

Summaries for Atrial Septal Defect 4

UniProtKB/Swiss-Prot : 73 Atrial septal defect 4: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.

MalaCards based summary : Atrial Septal Defect 4, also known as asd4, is related to atrial heart septal defect and atrial septal defect 3. An important gene associated with Atrial Septal Defect 4 is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways is Heart Development. Affiliated tissues include heart, and related phenotypes are coarctation of aorta and patent foramen ovale

Disease Ontology : 12 An atrial heart septal defect type 4 that has material basis in mutation in the TBX20 gene.

More information from OMIM: 611363 PS108800

Related Diseases for Atrial Septal Defect 4

Graphical network of the top 20 diseases related to Atrial Septal Defect 4:



Diseases related to Atrial Septal Defect 4

Symptoms & Phenotypes for Atrial Septal Defect 4

Human phenotypes related to Atrial Septal Defect 4:

31
# Description HPO Frequency HPO Source Accession
1 coarctation of aorta 31 occasional (7.5%) HP:0001680
2 patent foramen ovale 31 occasional (7.5%) HP:0001655

Clinical features from OMIM:

611363

Drugs & Therapeutics for Atrial Septal Defect 4

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect 4

Genetic Tests for Atrial Septal Defect 4

Genetic tests related to Atrial Septal Defect 4:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 4 29 TBX20

Anatomical Context for Atrial Septal Defect 4

MalaCards organs/tissues related to Atrial Septal Defect 4:

40
Heart

Publications for Atrial Septal Defect 4

Articles related to Atrial Septal Defect 4:

(show all 19)
# Title Authors PMID Year
1
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 56 6
19762328 2010
2
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. 56 6
17668378 2007
3
Beating-heart aortic arch surgery in neonates and infants. 61
29617791 2018
4
MoSnt2-dependent deacetylation of histone H3 mediates MoTor-dependent autophagy and plant infection by the rice blast fungus Magnaporthe oryzae. 61
29929416 2018
5
Withdrawal syndrome and hypomagnesaemia and in a newborn exposed to valproic acid and carbamazepine during pregnancy. 61
27489470 2016
6
Surgical Management of Vascular Stents in Pediatric Cardiac Surgery: Clues for a Staged Partnership. 61
26111746 2015
7
GATA-Dependent Glutaminolysis Drives Appressorium Formation in Magnaporthe oryzae by Suppressing TOR Inhibition of cAMP/PKA Signaling. 61
25901357 2015
8
Variations of pulmonary arteries and other associated defects in Tetralogy of Fallot. 61
25197621 2014
9
Pulmonary artery sling: current results with cardiopulmonary bypass. 61
22050985 2012
10
Deletion and overexpression of the Aspergillus nidulans GATA factor AreB reveals unexpected pleiotropy. 61
19628561 2009
11
Surgical treatment of pulmonary artery sling and tracheal stenosis. 61
15620911 2005
12
Electroanatomic mapping of entrained and exit zones in patients with repaired congenital heart disease and intra-atrial reentrant tachycardia. 61
11319195 2001
13
The Aspergillus nidulans GATA transcription factor gene areB encodes at least three proteins and features three classes of mutation. 61
11309119 2001
14
ASD4, a new GATA factor of Neurospora crassa, displays sequence-specific DNA binding and functions in ascus and ascospore development. 61
10998244 2000
15
[Cardiovascular abnormalities in Marfan syndrome]. 61
1620255 1992
16
25-year mortality after surgical repair of congenital heart defect in childhood. A population-based cohort study. 61
1744959 1991
17
[Tricuspid valve motion and tricuspid valve ring size in normals and patients with atrial septal defect (author's transl)]. 61
7264386 1981
18
Infradiaphragmatic total anomalous pulmonary venous return. Review of clinical and pathological findings and results of operation in 28 cases. 61
884012 1977
19
REPAIR OF ATRIAL SEPTAL DEFECT. 4. NURSING CARE AFTER CARDIAC SURGERY. 61
14105512 1964

Variations for Atrial Septal Defect 4

ClinVar genetic disease variations for Atrial Septal Defect 4:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX20 NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)SNV Pathogenic 4632 rs137852954 7:35288378-35288378 7:35248766-35248766
2 TBX20 NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter)SNV Pathogenic 4633 rs137852955 7:35284632-35284632 7:35245020-35245020
3 TBX20 NM_001077653.2(TBX20):c.363C>G (p.Ile121Met)SNV Pathogenic 4634 rs267607106 7:35289580-35289580 7:35249968-35249968
4 TBX20 NM_001077653.2(TBX20):c.1356A>TSNV Uncertain significance 132827 rs483353000 7:35242030-35242030 7:35202418-35202418
5 TBX20 NM_001077653.2(TBX20):c.1357T>ASNV Uncertain significance 132828 rs483353004 7:35242029-35242029 7:35202417-35202417
6 TBX20 NM_001077653.2(TBX20):c.1189C>T (p.Leu397=)SNV Uncertain significance 132826 rs483353003 7:35242197-35242197 7:35202585-35202585
7 TBX20 NM_001077653.2(TBX20):c.-517C>TSNV Uncertain significance 132821 rs483353001 7:35293748-35293748 7:35254137-35254137
8 TBX20 NM_001077653.2(TBX20):c.1003+129T>CSNV Uncertain significance 132822 rs483353008 7:35243953-35243953 7:35204341-35204341
9 TBX20 NM_001077653.2(TBX20):c.1003+99C>TSNV Uncertain significance 132823 rs483353007 7:35243983-35243983 7:35204371-35204371
10 TBX20 NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro)SNV Uncertain significance 132824 rs483352998 7:35242278-35242278 7:35202666-35202666
11 TBX20 NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg)SNV Uncertain significance 132825 rs483352999 7:35242202-35242202 7:35202590-35202590
12 TBX20 NM_001077653.2(TBX20):c.1392T>ASNV Uncertain significance 132829 rs483353005 7:35241994-35241994 7:35202382-35202382
13 TBX20 NM_001077653.2(TBX20):c.546-1224dupduplication Uncertain significance 132830 rs483353006 7:35285891-35285892 7:35246279-35246280
14 TBX20 NM_001077653.2(TBX20):c.655-18C>TSNV Uncertain significance 132831 rs483353009 7:35280667-35280667 7:35241055-35241055
15 TBX20 NM_001077653.2(TBX20):c.657A>C (p.Ile219=)SNV Uncertain significance 132832 rs483353002 7:35280647-35280647 7:35241035-35241035
16 TBX20 NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp)SNV Uncertain significance 132833 rs111862418 7:35244160-35244160 7:35204548-35204548
17 TBX20 NM_001077653.2(TBX20):c.931C>T (p.Arg311Cys)SNV Uncertain significance 518384 rs199774220 7:35244154-35244154 7:35204542-35204542
18 TBX20 NM_001077653.2(TBX20):c.818C>T (p.Thr273Met)SNV Uncertain significance 519119 rs1554286367 7:35271188-35271188 7:35231576-35231576
19 TBX20 NM_001077653.2(TBX20):c.546-8T>ASNV Uncertain significance 802304 7:35284677-35284677 7:35245065-35245065
20 TBX20 NM_001077653.2(TBX20):c.39T>C (p.Ser13=)SNV Benign 518385 rs336283 7:35293193-35293193 7:35253582-35253582
21 TBX20 NM_001077653.2(TBX20):c.1017A>C (p.Thr339=)SNV Benign 518383 rs112054378 7:35242369-35242369 7:35202757-35202757

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 4:

73
# Symbol AA change Variation ID SNP ID
1 TBX20 p.Ile152Met VAR_036995 rs137852954
2 TBX20 p.Ile121Met VAR_073144 rs267607106

Expression for Atrial Septal Defect 4

Search GEO for disease gene expression data for Atrial Septal Defect 4.

Pathways for Atrial Septal Defect 4

Pathways related to Atrial Septal Defect 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 TBX20 NKX2-5

GO Terms for Atrial Septal Defect 4

Cellular components related to Atrial Septal Defect 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small ribosomal subunit GO:0015935 8.62 RPS3 RPS2

Biological processes related to Atrial Septal Defect 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 outflow tract septum morphogenesis GO:0003148 9.32 TBX20 NKX2-5
2 embryonic heart tube development GO:0035050 9.26 TBX20 NKX2-5
3 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.16 SUB1 NKX2-5
4 cardiac muscle tissue morphogenesis GO:0055008 8.96 TBX20 NKX2-5
5 atrial septum morphogenesis GO:0060413 8.62 TBX20 NKX2-5

Sources for Atrial Septal Defect 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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