ASD2
MCID: ATR066
MIFTS: 45

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 58 12 76 30 13 6 74
Asd2 58 12 76
Atrial Heart Septal Defect 2 12 15
Septal Defect, Atrial, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110107
OMIM 58 607941
MeSH 45 D006344
ICD10 34 Q21.1
MedGen 43 C1842778
UMLS 74 C1842778

Summaries for Atrial Septal Defect 2

UniProtKB/Swiss-Prot : 76 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 atrial heart septal defect and ventricular septal defect 1. An important gene associated with Atrial Septal Defect 2 is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Akt Signaling and Allograft rejection. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, 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.

Description from OMIM: 607941

Related Diseases for Atrial Septal Defect 2

Diseases in the Atrial Septal Defect 3 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
Atrial Septal Defect 4 Atrial Septal Defect 5
Atrial Septal Defect 6 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 48)
# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 30.5 ARSD GATA4 SHROOM1
2 ventricular septal defect 1 11.2
3 atrial septal defect 1 10.3 CD81 LY75
4 cytokine deficiency 10.3 IL13 IL5
5 pemphigoid gestationis 10.3 CCL11 IL5
6 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 IL13 IL5
7 respiratory syncytial virus infectious disease 10.2 IL13 IL5
8 nickel allergic contact dermatitis 10.2 IL13 IL5
9 angiostrongyliasis 10.1 CCL11 IL13 IL5
10 strongyloidiasis 10.1 CCL11 IL13 IL5
11 esophagitis, eosinophilic, 1 10.1 CCL11 IL13 IL5
12 esophagitis 10.1 CCL11 IL13 IL5
13 eosinophilic meningitis 10.1 CCL11 IL13 IL5
14 chronic meningitis 10.1 CCL11 IL5
15 chronic conjunctivitis 10.1 CCL11 IL13 IL5
16 conjunctivitis 10.1 CCL11 IL13 IL5
17 eosinophilic gastritis 10.1 CCL11 IL13 IL5
18 vernal keratoconjunctivitis 10.1 CCL11 IL13 IL5
19 keratoconjunctivitis 10.1 CCL11 IL13 IL5
20 radiculopathy 10.1 CCL11 IL13 IL5
21 conjunctival disease 10.1 CCL11 IL13 IL5
22 night blindness, congenital stationary, type 1a 10.1 CCL11 IL13 IL5
23 pulmonary eosinophilia 10.1 CCL11 IL13 IL5
24 eosinophilic pneumonia 10.1 CCL11 IL13 IL5
25 onchocerciasis 10.1 CCL11 IL13 IL5
26 allergic conjunctivitis 10.1 CCL11 IL13 IL5
27 nasal cavity disease 10.1 CCL11 IL13 IL5
28 nose disease 10.1 CCL11 IL13 IL5
29 common cold 10.1 CCL11 IL13 IL5
30 respiratory allergy 10.1 CCL11 IL13 IL5
31 upper respiratory tract disease 10.1 CCL11 IL13 IL5
32 paragonimiasis 10.1 IL13 IL5
33 leukocyte disease 10.1 CCL11 IL13 IL5
34 bronchial disease 10.1 CCL11 IL13 IL5
35 bronchiolitis 10.1 CCL11 IL13 IL5
36 allergic asthma 10.1 CCL11 IL13 IL5
37 cutaneous leishmaniasis 10.1 IL13 IL5 TLR2
38 inflammatory bowel disease 4 10.0 IL13 IL5
39 leishmaniasis 10.0 IL13 IL5 TLR2
40 hypereosinophilic syndrome 10.0 CCL11 IL13 IL5
41 respiratory system disease 10.0 CCL11 IL13 IL5
42 allergic hypersensitivity disease 10.0 CCL11 IL13 IL5
43 rhinitis 10.0 CCL11 IL13 IL5
44 proteasome-associated autoinflammatory syndrome 1 9.9 CCL11 IL13 IL5 TLR2
45 pneumonia 9.9 CCL11 IL13 IL5 TLR2
46 apple allergy 9.9 IL13 IL5
47 dermatitis, atopic 9.8 CCL11 IL13 IL5
48 malaria 9.7 CCL11 CD81 IL13 IL5 TLR2

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:

33
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 33 occasional (7.5%) HP:0001629
2 atrioventricular canal defect 33 occasional (7.5%) HP:0006695
3 atrial septal defect 33 HP:0001631

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Atrial Septal Defect 2 according to GeneCards Suite gene sharing:

27 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.15 GATA4 LY75
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.15 ACTB APEX1 GATA4 IL13 LY75
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.15 LY75
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.15 GATA4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.15 GATA4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.15 IL13
7 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.15 LY75
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.15 IL13
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.15 ACTB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.15 LY75
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.15 ACTB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.15 APEX1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.15 APEX1 LY75
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.15 ACTB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.15 APEX1 IL13
16 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.15 ACTB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.15 APEX1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.15 ACTB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.15 IL13
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.15 ACTB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.15 ACTB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.15 LY75
23 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.15 APEX1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.15 LY75
25 no effect GR00402-S-1 9.92 ACTB ADRA2B APEX1 ARSD CCL11 CD81

MGI Mouse Phenotypes related to Atrial Septal Defect 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 ACTB ADRA2B APEX1 CD81 CFL1 CSF1R
2 hematopoietic system MP:0005397 10.18 ACTB ADRA2B CCL11 CD81 CSF1R GATA4
3 homeostasis/metabolism MP:0005376 10.15 ACTB ADRA2B APEX1 CD81 CFL1 CSF1R
4 embryo MP:0005380 10.06 ACTB ADRA2B APEX1 CFL1 GATA4 GRB2
5 immune system MP:0005387 10.06 ACTB APEX1 CCL11 CD81 CSF1R GRB2
6 no phenotypic analysis MP:0003012 9.8 ACTB CFL1 CSF1R GATA4 GRB2 IL13
7 normal MP:0002873 9.76 ACTB APEX1 CCL11 CFL1 CSF1R GATA4
8 reproductive system MP:0005389 9.61 ACTB ADRA2B APEX1 CSF1R GATA4 GRB2
9 respiratory system MP:0005388 9.17 ADRA2B CCL11 CD81 GATA4 IL13 IL5

Drugs & Therapeutics for Atrial Septal Defect 2

Drugs for Atrial Septal Defect 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 2
2 Anesthetics, Local Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes of Expanded Autologous Bone Marrow-derived Mesenchymal Stem Cells Therapy in Type II Diabetes Recruiting NCT03343782 Phase 2
2 Outcomes of Transcatheter ASD Closure Guided by 3D-TEE Not yet recruiting NCT03867708
3 Acute Study to Collect Electrical Signals From the Heart Using a Special Lead Completed NCT02772380 Not Applicable

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 30 GATA4

Anatomical Context for Atrial Septal Defect 2

MalaCards organs/tissues related to Atrial Septal Defect 2:

42
Heart, Bone

Publications for Atrial Septal Defect 2

Articles related to Atrial Septal Defect 2:

(show all 12)
# Title Authors Year
1
Therapy From a Novel Substernal Lead: The ASD2 Study. ( 30784689 )
2019
2
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
3
Survival of adults with ASD2: a call for a longitudinal clinical registry. ( 26040805 )
2015
4
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. ( 20347099 )
2010
5
A novel mutation of GATA4 in a familial atrial septal defect. ( 20659440 )
2010
6
GATA4 sequence variants in patients with congenital heart disease. ( 18055909 )
2007
7
Spectrum of heart disease associated with murine and human GATA4 mutation. ( 17643447 )
2007
8
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. ( 15810002 )
2005
9
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. ( 12845333 )
2003
10
[Secondary displacement of an Amplatz occluder for atrial septal defect. 2 case reports]. ( 11828926 )
2001
11
Microwave Spectrum of the AsD2(&Xtilde;2B1) Radical: Harmonic Force Field and Molecular Structure. ( 9831507 )
1998
12
REPAIR OF ATRIAL SEPTAL DEFECT. 2. HYPOTHERMIA IN CARDIAC SURGERY. ( 14105510 )
1964

Variations for Atrial Septal Defect 2

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

76
# 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

ClinVar genetic disease variations for Atrial Septal Defect 2:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
2 GATA4 NM_002052.4(GATA4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs104894073 GRCh38 Chromosome 8, 11750213: 11750213
3 GATA4 GATA4, 1-BP DEL, 1075G deletion Pathogenic
4 GATA4 NM_002052.4(GATA4): c.155C> T (p.Ser52Phe) single nucleotide variant Pathogenic rs104894074 GRCh37 Chromosome 8, 11565976: 11565976
5 GATA4 NM_002052.4(GATA4): c.155C> T (p.Ser52Phe) single nucleotide variant Pathogenic rs104894074 GRCh38 Chromosome 8, 11708467: 11708467
6 GATA4 NM_002052.4(GATA4): c.946C> G (p.Gln316Glu) single nucleotide variant Pathogenic rs56298569 GRCh37 Chromosome 8, 11612591: 11612591
7 GATA4 NM_002052.4(GATA4): c.946C> G (p.Gln316Glu) single nucleotide variant Pathogenic rs56298569 GRCh38 Chromosome 8, 11755082: 11755082
8 GATA4 NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56208331 GRCh37 Chromosome 8, 11615928: 11615928
9 GATA4 NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56208331 GRCh38 Chromosome 8, 11758419: 11758419
10 GATA4 NM_002052.4(GATA4): c.886G> T (p.Gly296Cys) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
11 GATA4 NM_002052.4(GATA4): c.886G> T (p.Gly296Cys) single nucleotide variant Pathogenic rs104894073 GRCh38 Chromosome 8, 11750213: 11750213
12 GATA4 NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115099192 GRCh37 Chromosome 8, 11615875: 11615875
13 GATA4 NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115099192 GRCh38 Chromosome 8, 11758366: 11758366
14 GATA4 NM_002052.4(GATA4): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs387906771 GRCh37 Chromosome 8, 11607675: 11607675
15 GATA4 NM_002052.4(GATA4): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs387906771 GRCh38 Chromosome 8, 11750166: 11750166
16 GATA4 NM_002052.4(GATA4): c.928A> G (p.Met310Val) single nucleotide variant Pathogenic rs387906772 GRCh37 Chromosome 8, 11612573: 11612573
17 GATA4 NM_002052.4(GATA4): c.928A> G (p.Met310Val) single nucleotide variant Pathogenic rs387906772 GRCh38 Chromosome 8, 11755064: 11755064
18 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh37 Chromosome 8, 11607658: 11607658
19 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh38 Chromosome 8, 11750149: 11750149
20 GATA4 NM_002052.4(GATA4): c.263G> T (p.Gly88Val) single nucleotide variant Uncertain significance rs980402710 GRCh38 Chromosome 8, 11708575: 11708575
21 GATA4 NM_002052.4(GATA4): c.263G> T (p.Gly88Val) single nucleotide variant Uncertain significance rs980402710 GRCh37 Chromosome 8, 11566084: 11566084
22 GATA4 NM_002052.4(GATA4): c.958C> T (p.Arg320Trp) single nucleotide variant Likely pathogenic rs1282433424 GRCh38 Chromosome 8, 11755094: 11755094
23 GATA4 NM_002052.4(GATA4): c.958C> T (p.Arg320Trp) single nucleotide variant Likely pathogenic rs1282433424 GRCh37 Chromosome 8, 11612603: 11612603

Expression for Atrial Septal Defect 2

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

Pathways for Atrial Septal Defect 2

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 ACTB CCL11 CSF1R GRB2 IL13 IL5
2
Show member pathways
12.61 ACTB CCL11 GRB2 IL13 IL5
3
Show member pathways
12.34 CD81 GRB2 IL13 IL5
4
Show member pathways
12.12 CSF1R GRB2 IL13 IL5
5
Show member pathways
11.93 ACTB CCL11 CFL1 GRB2 TLR2
6
Show member pathways
11.89 CCL11 IL13 IL5 TLR2
7
Show member pathways
11.76 IL13 IL5 TLR2
8 11.13 CCL11 GRB2 IL5
9 11 ACTB ADRA2B GATA4 GRB2
10 10.93 CCL11 IL13 IL5
11 10.67 CCL11 CFL1 CSF1R IL13 IL5
12 10.46 CCL11 IL13 IL5

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 apical junction complex GO:0043296 8.96 SHROOM1 SHROOM3
2 cortical actin cytoskeleton GO:0030864 8.8 CFL1 SHROOM1 SHROOM3

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.72 CCL11 IL13 IL5 LY75 TLR2
2 cytokine-mediated signaling pathway GO:0019221 9.55 CCL11 CSF1R GRB2 IL13 IL5
3 positive regulation of B cell proliferation GO:0030890 9.43 CD81 IL13 IL5
4 microglial cell activation GO:0001774 9.37 IL13 TLR2
5 actin filament organization GO:0007015 9.26 CCL11 CFL1 SHROOM1 SHROOM3
6 inflammatory response GO:0006954 9.1 CCL11 CSF1R IL13 IL5 LY75 TLR2

Sources for Atrial Septal Defect 2

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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