ASD2
MCID: ATR066
MIFTS: 29

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 57 12 75 29 13 6 73
Asd2 57 12 75
Atrial Heart Septal Defect 2 12 15
Septal Defect, Atrial, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607941
Disease Ontology 12 DOID:0110107
ICD10 33 Q21.1
MedGen 42 C1842778
MeSH 44 D006344
UMLS 73 C1842778

Summaries for Atrial Septal Defect 2

UniProtKB/Swiss-Prot : 75 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 is G-protein signaling_Cross-talk between Ras-family GTPases. The drugs Anesthetics, Local and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are atrial septal defect and ventricular septal 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:

# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 29.9 GATA4 SHROOM1
2 ventricular septal defect 1 11.1

Symptoms & Phenotypes for Atrial Septal Defect 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Atrial Septal Defect 2:

32
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631
2 ventricular septal defect 32 occasional (7.5%) HP:0001629
3 atrioventricular canal defect 32 occasional (7.5%) HP:0006695

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, Local Phase 2
2 Anesthetics 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 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 29 GATA4

Anatomical Context for Atrial Septal Defect 2

MalaCards organs/tissues related to Atrial Septal Defect 2:

41
Heart

Publications for Atrial Septal Defect 2

Articles related to Atrial Septal Defect 2:

# Title Authors Year
1
Survival of adults with ASD2: a call for a longitudinal clinical registry. ( 26040805 )
2015
2
[Secondary displacement of an Amplatz occluder for atrial septal defect. 2 case reports]. ( 11828926 )
2001
3
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:

75
# 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 21)
# 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.958C> T (p.Arg320Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 11755094: 11755094
21 GATA4 NM_002052.4(GATA4): c.958C> T (p.Arg320Trp) single nucleotide variant Likely pathogenic 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:

# Super pathways Score Top Affiliating Genes
1 10 ADRA2B GATA4

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 adherens junction GO:0005912 9.16 SHROOM1 SHROOM3
2 cortical actin cytoskeleton GO:0030864 8.96 SHROOM1 SHROOM3
3 apical junction complex GO:0043296 8.62 SHROOM1 SHROOM3

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.26 ADRA2B GATA4
2 actin cytoskeleton organization GO:0030036 9.16 SHROOM1 SHROOM3
3 actin filament organization GO:0007015 8.96 SHROOM1 SHROOM3
4 cell morphogenesis GO:0000902 8.62 SHROOM1 SHROOM3

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.62 SHROOM1 SHROOM3

Sources for Atrial Septal Defect 2

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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