ASD4
MCID: ATR031
MIFTS: 30

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 57 12 72 29 13 6 70
Asd4 57 12 72
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® 57 611363
OMIM Phenotypic Series 57 PS108800
MeSH 44 D006344
ICD10 32 Q21.1
MedGen 41 C1969657
SNOMED-CT via HPO 68 204317008 263681008 7305005
UMLS 70 C1969657

Summaries for Atrial Septal Defect 4

UniProtKB/Swiss-Prot : 72 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 heart septal defect. An important gene associated with Atrial Septal Defect 4 is TBX20 (T-Box Transcription Factor 20). 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

Diseases in the Atrial Septal Defect 2 family:

Atrial Septal Defect 1 Atrial Septal Defect 4
Atrial Septal Defect 5 Atrial Septal Defect 6
Atrial Septal Defect 3 Atrial Septal Defect 8
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 29.8 TLL1 TBX20 HDAC8
2 heart septal defect 10.0
3 gestational choriocarcinoma 9.9 H19 ENPEP
4 interatrial communication 9.8 TLL1 TBX20
5 atrial septal defect 6 9.6 TNRC18 TLL1 TBX20 PROX2
6 atrial septal defect 5 9.5 TNRC18 TLL1 TBX20 PROX2

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 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Cytoplasmic 40S maturation defects GR00209-A-2 8.62 RPS2 RPS3

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. 57 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. 57 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 Position
1 TBX20 NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) SNV Pathogenic 4633 rs137852955 GRCh37: 7:35284632-35284632
GRCh38: 7:35245020-35245020
2 TBX20 NM_001077653.2(TBX20):c.363C>G (p.Ile121Met) SNV Pathogenic 4634 rs267607106 GRCh37: 7:35289580-35289580
GRCh38: 7:35249968-35249968
3 TBX20 NM_001077653.2(TBX20):c.-517C>T SNV Uncertain significance 132821 rs483353001 GRCh37: 7:35293748-35293748
GRCh38: 7:35254137-35254137
4 TBX20 NM_001077653.2(TBX20):c.1003+129T>C SNV Uncertain significance 132822 rs483353008 GRCh37: 7:35243953-35243953
GRCh38: 7:35204341-35204341
5 TBX20 NM_001077653.2(TBX20):c.1003+99C>T SNV Uncertain significance 132823 rs483353007 GRCh37: 7:35243983-35243983
GRCh38: 7:35204371-35204371
6 TBX20 NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro) SNV Uncertain significance 132824 rs483352998 GRCh37: 7:35242278-35242278
GRCh38: 7:35202666-35202666
7 TBX20 NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg) SNV Uncertain significance 132825 rs483352999 GRCh37: 7:35242202-35242202
GRCh38: 7:35202590-35202590
8 TBX20 NM_001077653.2(TBX20):c.1189C>T (p.Leu397=) SNV Uncertain significance 132826 rs483353003 GRCh37: 7:35242197-35242197
GRCh38: 7:35202585-35202585
9 TBX20 NM_001077653.2(TBX20):c.1356A>T SNV Uncertain significance 132827 rs483353000 GRCh37: 7:35242030-35242030
GRCh38: 7:35202418-35202418
10 TBX20 NM_001077653.2(TBX20):c.1357T>A SNV Uncertain significance 132828 rs483353004 GRCh37: 7:35242029-35242029
GRCh38: 7:35202417-35202417
11 TBX20 NM_001077653.2(TBX20):c.1392T>A SNV Uncertain significance 132829 rs483353005 GRCh37: 7:35241994-35241994
GRCh38: 7:35202382-35202382
12 TBX20 NM_001077653.2(TBX20):c.546-1224dup Duplication Uncertain significance 132830 rs483353006 GRCh37: 7:35285891-35285892
GRCh38: 7:35246279-35246280
13 TBX20 NM_001077653.2(TBX20):c.655-18C>T SNV Uncertain significance 132831 rs483353009 GRCh37: 7:35280667-35280667
GRCh38: 7:35241055-35241055
14 TBX20 NM_001077653.2(TBX20):c.657A>C (p.Ile219=) SNV Uncertain significance 132832 rs483353002 GRCh37: 7:35280647-35280647
GRCh38: 7:35241035-35241035
15 TBX20 NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp) SNV Uncertain significance 132833 rs111862418 GRCh37: 7:35244160-35244160
GRCh38: 7:35204548-35204548
16 TBX20 NM_001077653.2(TBX20):c.931C>T (p.Arg311Cys) SNV Uncertain significance 518384 rs199774220 GRCh37: 7:35244154-35244154
GRCh38: 7:35204542-35204542
17 TBX20 NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) SNV Uncertain significance 519119 rs1554286367 GRCh37: 7:35271188-35271188
GRCh38: 7:35231576-35231576
18 TBX20 NM_001077653.2(TBX20):c.546-8T>A SNV Uncertain significance 802304 rs191362319 GRCh37: 7:35284677-35284677
GRCh38: 7:35245065-35245065
19 TBX20 NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) SNV Uncertain significance 4632 rs137852954 GRCh37: 7:35288378-35288378
GRCh38: 7:35248766-35248766
20 TBX20 NM_001077653.2(TBX20):c.39T>C (p.Ser13=) SNV Benign 518385 rs336283 GRCh37: 7:35293193-35293193
GRCh38: 7:35253582-35253582
21 TBX20 NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) SNV Benign 518383 rs112054378 GRCh37: 7:35242369-35242369
GRCh38: 7:35202757-35202757

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

72
# 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

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 cytosolic small ribosomal subunit GO:0022627 8.96 RPS3 RPS2
2 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 negative regulation of protein ubiquitination GO:0031397 8.62 RPS3 HDAC8

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

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.96 RPS3 HDAC8
2 Hsp70 protein binding GO:0030544 8.62 RPS3 HDAC8

Sources for Atrial Septal Defect 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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