ASD2
MCID: ATR066
MIFTS: 40

Atrial Septal Defect 2 (ASD2)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 2

MalaCards integrated aliases for Atrial Septal Defect 2:

Name: Atrial Septal Defect 2 56 12 73 29 13 6 71
Asd2 56 12 73
Atrial Heart Septal Defect 2 12 15
Septal Defect, Atrial, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
atrial septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110107
OMIM 56 607941
OMIM Phenotypic Series 56 PS108800
MeSH 43 D006344
ICD10 32 Q21.1
MedGen 41 C1842778
UMLS 71 C1842778

Summaries for Atrial Septal Defect 2

UniProtKB/Swiss-Prot : 73 Atrial septal defect 2: 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 ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non- cardiac abnormalities.

MalaCards based summary : Atrial Septal Defect 2, also known as asd2, is related to heart septal defect and atrial heart septal defect. An important gene associated with Atrial Septal Defect 2 is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Signaling by PTK6 and Cardiac Progenitor Differentiation. Affiliated tissues include heart and lung, and related phenotypes are ventricular septal defect and atrioventricular canal defect

Disease Ontology : 12 An atrial heart septal defect type 2 that has material basis in heterozygous mutation in the GATA4 gene on chromosome 8p23.

More information from OMIM: 607941 PS108800

Related Diseases for Atrial Septal Defect 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 29.5 U2AF1 TBX20 NKX2-5 GATA4
2 atrial heart septal defect 28.8 TBX20 SHROOM4 SHROOM2 SHROOM1 RBFOX1 NKX2-5
3 ventricular septal defect 1 11.3
4 ventricular fibrillation, paroxysmal familial, 1 10.3
5 eisenmenger syndrome 10.2 NKX2-5 GATA4
6 total anomalous pulmonary venous return 1 10.2 NKX2-5 GATA4
7 hypogonadotropic hypogonadism 5 with or without anosmia 10.1 NKX2-5 GATA4
8 pulmonary valve disease 10.1 NKX2-5 GATA4
9 patau syndrome 10.1 U2AF1 GATA4
10 atrial septal defect 1 10.1 SHROOM4 SHROOM2 SHROOM1 RBFOX1
11 pulmonary valve stenosis 10.1 NKX2-5 GATA4
12 dextro-looped transposition of the great arteries 10.0 NKX2-5 GATA4
13 microphthalmia 10.0
14 hypoplastic right heart syndrome 9.7 TBX20 NKX2-5
15 tricuspid atresia 9.7 TBX20 NKX2-5 GATA4
16 ebstein anomaly 9.6 TBX20 NKX2-5 GATA4
17 jacobsen syndrome 9.6 TBX20 NKX2-5 GATA4
18 holt-oram syndrome 9.6 TBX20 NKX2-5 GATA4
19 patent ductus arteriosus 1 9.6 TBX20 NKX2-5 GATA4
20 double outlet right ventricle 9.6 TBX20 NKX2-5 GATA4
21 atrioventricular septal defect 9.6 TBX20 NKX2-5 GATA4
22 hypoplastic left heart syndrome 9.6 TBX20 NKX2-5 GATA4
23 patent foramen ovale 9.5 TBX20 NKX2-5 GATA4
24 atrial septal defect 4 9.5 TBX20 SFR1 NKX2-5
25 right atrial isomerism 9.3 TBX20 NKX2-5

Graphical network of the top 20 diseases related to Atrial Septal Defect 2:



Diseases related to Atrial Septal Defect 2

Symptoms & Phenotypes for Atrial Septal Defect 2

Human phenotypes related to Atrial Septal Defect 2:

31
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 occasional (7.5%) HP:0001629
2 atrioventricular canal defect 31 occasional (7.5%) HP:0006695
3 atrial septal defect 31 HP:0001631

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
atrial septal defect
ventricular septal defect (in some patients)
pulmonary valve thickening or stenosis
atrioventricular septal defect (in some patients)
cardiac valve insufficiency (in some patients)

Clinical features from OMIM:

607941

Drugs & Therapeutics for Atrial Septal Defect 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Unknown status NCT02917980
2 Outcomes of Transcatheter Closure of Secundum Atrial Septal Defect Guided by Three-dimensional Transesophageal Echocardiography Not yet recruiting NCT03867708

Search NIH Clinical Center for Atrial Septal Defect 2

Genetic Tests for Atrial Septal Defect 2

Genetic tests related to Atrial Septal Defect 2:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 2 29 GATA4

Anatomical Context for Atrial Septal Defect 2

MalaCards organs/tissues related to Atrial Septal Defect 2:

40
Heart, Lung

Publications for Atrial Septal Defect 2

Articles related to Atrial Septal Defect 2:

(show top 50) (show all 56)
# Title Authors PMID Year
1
A novel mutation of GATA4 in a familial atrial septal defect. 6 56
20659440 2010
2
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 6 56
20347099 2010
3
GATA4 sequence variants in patients with congenital heart disease. 6 56
18055909 2007
4
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 56 6
15810002 2005
5
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 56 6
12845333 2003
6
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
7
Spectrum of heart disease associated with murine and human GATA4 mutation. 6
17643447 2007
8
Ultrahigh-density mapping supplemented with global chamber activation identifies noncavotricuspid-dependent intra-atrial re-entry conduction isthmuses in adult congenital heart disease. 61
31646694 2019
9
Off-label use of duct occluder in transcatheter closure of secundum atrial septal defect with no rim to right pulmonary vein. 61
30712912 2019
10
Therapy From a Novel Substernal Lead: The ASD2 Study. 61
30784689 2019
11
Recent Experience and Follow-Up After Surgical Closure of Secundum Atrial Septal Defect in 120 Children. 61
29789918 2018
12
[Effect of akebiasaponin D with different concentrations on orthodontic tooth movement in rats]. 61
30146637 2018
13
A pilot study of a cardiovascular virtual endoscopy system based on multi-detector computed tomography in diagnosing tetralogy of Fallot in pediatric patients. 61
29434740 2018
14
Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. 61
29175758 2018
15
Catheter closure of atrial septal defect in the elderly (≥65years). A worthwhile procedure. 61
27232907 2016
16
The impact of diagnosis: measuring the psychological response to being diagnosed with serious or potentially lethal cardiac disease in young competitive athletes. 61
26612845 2016
17
Survival of adults with ASD2: a call for a longitudinal clinical registry. 61
26040805 2015
18
Secundum atrial septal defect is associated with reduced survival in adult men. 61
25883174 2015
19
Stages of psychological impact after diagnosis with serious or potentially lethal cardiac disease in young competitive athletes: a new model. 61
25680944 2015
20
Effects of Asian sand dust particles on the respiratory and immune system. 61
23576315 2014
21
ANAEROBIC SOIL DISINFESTATION IN MICROCOSMS OF TWO SANDY SOILS. 61
26084078 2014
22
Effects of two Asian sand dusts transported from the dust source regions of Inner Mongolia and northeast China on murine lung eosinophilia. 61
23896513 2013
23
A novel weighted cumulative delta-check method for highly sensitive detection of specimen mix-up in the clinical laboratory. 61
23388451 2013
24
[Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases]. 61
22883091 2012
25
Evaluation of cognitive function and P300 in patients undergoing cardiac surgery. 61
21061771 2010
26
Recurrence of cerebrovascular events in young adults with a secundum atrial septal defect. 61
19171395 2010
27
Adults with Down syndrome: safety and long-term outcome of cardiac operation. 61
20136856 2010
28
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. 61
19767224 2009
29
Macrophage cell lines use CD81 in cell growth regulation. 61
19184252 2009
30
hShroom1 links a membrane bound protein to the actin cytoskeleton. 61
19137261 2009
31
Achieving metrics during beating-heart ex-maze procedures improves outcomes. 61
18782703 2008
32
Isomerization and fragmentation reactions of gaseous phenylarsane radical cations and phenylarsanyl cations. A study by tandem mass spectrometry and theoretical calculations. 61
16609772 2006
33
Regulation of aspartokinase, aspartate semialdehyde dehydrogenase, dihydrodipicolinate synthase and dihydrodipicolinate reductase in Lactobacillus plantarum. 61
16385120 2006
34
Presentation of atrial septal defect in the pediatric population. 61
16235001 2005
35
Totally endoscopic atrial septal repair in adults with computer-enhanced telemanipulation. 61
12928645 2003
36
[Secondary displacement of an Amplatz occluder for atrial septal defect. 2 case reports]. 61
11828926 2001
37
Transcatheter closure of secundum atrial septal defects with the amplatzer septal occluder: early experience. 61
11344799 2001
38
Echocardiographic diagnosis of heart disease in apparently healthy adolescents. 61
10742325 2000
39
Secundum atrial septal defect is a dynamic three-dimensional entity. 61
10347334 1999
40
[Clinical analysis of percutaneous balloon mitral valvotomy in 1063 patients]. 61
12205935 1999
41
Microwave Spectrum of the AsD2(&Xtilde;2B1) Radical: Harmonic Force Field and Molecular Structure. 61
9831507 1998
42
Radiofrequency catheter ablation of common atrial flutter--acute and follow-up results. 61
10052277 1998
43
Detection of fetal congenital heart disease in a low-risk population. 61
9742568 1998
44
Ventricular performance and quality of life in patients who underwent radiofrequency AV junction ablation and permanent pacemaker implantation due to medically refractory atrial tachyarrhythmias. 61
9869999 1998
45
Effect of right ventricular volume overload on left ventricular diastolic function in patients with atrial septal defect. 61
8933238 1996
46
Native cardiac disease predisposing to infective endocarditis. 61
7671919 1995
47
Transesophageal echocardiography to evaluate patients with severe pulmonary hypertension for lung transplantation. 61
7887718 1995
48
[Transthoracic and transesophageal echocardiography in the pre- and postoperative assessment of interatrial communication]. 61
8134694 1993
49
Epidemiology of rheumatic and congenital heart diseases in school children. 61
1634785 1992
50
[Fontan's operation: results, immediate and long-term postoperative complications]. 61
2272418 1990

Variations for Atrial Septal Defect 2

ClinVar genetic disease variations for Atrial Septal Defect 2:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA4 NM_002052.5(GATA4):c.886G>A (p.Gly296Ser)SNV Pathogenic 9030 rs104894073 8:11607722-11607722 8:11750213-11750213
2 GATA4 NM_002052.5(GATA4):c.1075del (p.Glu359fs)deletion Pathogenic 9031 8:11614521-11614521 8:11757012-11757012
3 GATA4 NM_002052.5(GATA4):c.155C>T (p.Ser52Phe)SNV Pathogenic 9032 rs104894074 8:11565976-11565976 8:11708467-11708467
4 GATA4 NM_002052.5(GATA4):c.946C>G (p.Gln316Glu)SNV Pathogenic 9033 rs56298569 8:11612591-11612591 8:11755082-11755082
5 GATA4 NM_002052.5(GATA4):c.886G>T (p.Gly296Cys)SNV Pathogenic 30098 rs104894073 8:11607722-11607722 8:11750213-11750213
6 GATA4 NM_002052.5(GATA4):c.928A>G (p.Met310Val)SNV Pathogenic 30109 rs387906772 8:11612573-11612573 8:11755064-11755064
7 GATA4 NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)SNV Likely pathogenic 870470 8:11615964-11615964 8:11758455-11758455
8 GATA4 NM_001308093.3(GATA4):c.825C>T (p.Cys275=)SNV Conflicting interpretations of pathogenicity 44336 rs55980825 8:11607658-11607658 8:11750149-11750149
9 GATA4 NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln)SNV Conflicting interpretations of pathogenicity 30103 rs115099192 8:11615875-11615875 8:11758366-11758366
10 GATA4 NM_002052.5(GATA4):c.958C>T (p.Arg320Trp)SNV Conflicting interpretations of pathogenicity 545667 rs1282433424 8:11612603-11612603 8:11755094-11755094
11 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn)SNV Conflicting interpretations of pathogenicity 9034 rs56208331 8:11615928-11615928 8:11758419-11758419
12 GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val)SNV Uncertain significance 472776 rs980402710 8:11566084-11566084 8:11708575-11708575
13 GATA4 NM_002052.5(GATA4):c.839C>T (p.Thr280Met)SNV Uncertain significance 30108 rs387906771 8:11607675-11607675 8:11750166-11750166

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 2:

73
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Gly296Ser VAR_016204 rs104894073
2 GATA4 p.Ser52Phe VAR_038195 rs104894074
3 GATA4 p.Thr280Met VAR_067611 rs387906771
4 GATA4 p.Gly296Cys VAR_067612 rs104894073
5 GATA4 p.Met310Val VAR_067614 rs387906772
6 GATA4 p.Leu403Met VAR_067618 rs777778466

Expression for Atrial Septal Defect 2

Search GEO for disease gene expression data for Atrial Septal Defect 2.

Pathways for Atrial Septal Defect 2

GO Terms for Atrial Septal Defect 2

Cellular components related to Atrial Septal Defect 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 U2AF1 TBX20 SNRPC SFR1 RBFOX1 POLR3C
2 apical plasma membrane GO:0016324 9.56 SHROOM4 SHROOM3 SHROOM2 SHROOM1
3 adherens junction GO:0005912 9.46 SHROOM4 SHROOM3 SHROOM2 SHROOM1
4 cortical actin cytoskeleton GO:0030864 9.26 SHROOM4 SHROOM3 SHROOM2 SHROOM1
5 apical junction complex GO:0043296 8.92 SHROOM4 SHROOM3 SHROOM2 SHROOM1

Biological processes related to Atrial Septal Defect 2 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.76 SHROOM4 SHROOM3 SHROOM2 SHROOM1
2 actin filament organization GO:0007015 9.71 SHROOM4 SHROOM3 SHROOM2 SHROOM1
3 heart looping GO:0001947 9.65 TBX20 NKX2-5 GATA4
4 cell morphogenesis GO:0000902 9.62 SHROOM4 SHROOM3 SHROOM2 SHROOM1
5 aortic valve morphogenesis GO:0003180 9.58 TBX20 GATA4
6 outflow tract septum morphogenesis GO:0003148 9.58 TBX20 NKX2-5
7 cardiac muscle cell differentiation GO:0055007 9.57 NKX2-5 GATA4
8 cardiac muscle tissue development GO:0048738 9.56 NKX2-5 GATA4
9 embryonic heart tube development GO:0035050 9.55 TBX20 NKX2-5
10 cardiac muscle tissue morphogenesis GO:0055008 9.54 TBX20 NKX2-5
11 cardiac right ventricle morphogenesis GO:0003215 9.52 TBX20 GATA4
12 apical protein localization GO:0045176 9.51 SHROOM3 SHROOM2
13 mRNA processing GO:0006397 9.5 U2AF1 RBFOX1 NSRP1 KHDRBS3 KHDRBS2 KHDRBS1
14 cardiac ventricle morphogenesis GO:0003208 9.49 NKX2-5 GATA4
15 positive regulation of cardioblast differentiation GO:0051891 9.43 NKX2-5 GATA4
16 regulation of mRNA splicing, via spliceosome GO:0048024 9.43 KHDRBS3 KHDRBS2 KHDRBS1
17 cellular pigment accumulation GO:0043482 9.37 SHROOM3 SHROOM2
18 atrial septum morphogenesis GO:0060413 9.33 TBX20 NKX2-5 GATA4
19 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.02 RBFOX1 NSRP1 KHDRBS3 KHDRBS2 KHDRBS1

Molecular functions related to Atrial Septal Defect 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.87 U2AF1 SNRPC RBFOX1 KHDRBS3 KHDRBS2 KHDRBS1
2 actin binding GO:0003779 9.73 SHROOM4 SHROOM3 SHROOM2 SHROOM1
3 RNA binding GO:0003723 9.61 U2AF1 SNRPC RPL35 RBFOX1 NSRP1 KHDRBS3
4 SH3 domain binding GO:0017124 9.54 KHDRBS3 KHDRBS2 KHDRBS1
5 poly(U) RNA binding GO:0008266 9.46 KHDRBS2 KHDRBS1
6 actin filament binding GO:0051015 9.46 SHROOM4 SHROOM3 SHROOM2 SHROOM1
7 poly(A) binding GO:0008143 9.4 KHDRBS2 KHDRBS1
8 myosin II binding GO:0045159 9.26 SHROOM4 SHROOM1
9 mRNA binding GO:0003729 9.23 SNRPC RPL35 RBFOX1 NSRP1 KHDRBS3 KHDRBS2

Sources for Atrial Septal Defect 2

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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