ASD4
MCID: ATR031
MIFTS: 37

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 58 12 76 30 13 6 74
Asd4 58 12 76
Atrial Heart Septal Defect 4 12 15
Septal Defect, Atrial, Type 4 41

Characteristics:

HPO:

33
atrial septal defect 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110109
OMIM 58 611363
MeSH 45 D006344
ICD10 34 Q21.1
MedGen 43 C1969657
SNOMED-CT via HPO 70 204317008 263681008 7305005
UMLS 74 C1969657

Summaries for Atrial Septal Defect 4

UniProtKB/Swiss-Prot : 76 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 actinic cheilitis. An important gene associated with Atrial Septal Defect 4 is TBX20 (T-Box 20), and among its related pathways/superpathways are HIV Life Cycle and Phospholipase-C Pathway. 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.

Description from OMIM: 611363

Related Diseases for Atrial Septal Defect 4

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

# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 10.0
2 actinic cheilitis 9.9 HDAC1 HDAC2

Symptoms & Phenotypes for Atrial Septal Defect 4

Human phenotypes related to Atrial Septal Defect 4:

33
# Description HPO Frequency HPO Source Accession
1 coarctation of aorta 33 occasional (7.5%) HP:0001680
2 patent foramen ovale 33 occasional (7.5%) HP:0001655

Clinical features from OMIM:

611363

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-3 9.43 HDAC3
2 Increased Nanog expression GR00371-A-4 9.43 MTA1
3 Increased Nanog expression GR00371-A-5 9.43 HDAC3 MTA1 MTOR TBX20
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 ABL1 HDAC1 HDAC2 HDAC3 KAT8 MTA1

MGI Mouse Phenotypes related to Atrial Septal Defect 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 HDAC8
2 cardiovascular system MP:0005385 10.01 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 HDAC8
3 embryo MP:0005380 9.92 ABL1 EGLN2 HDAC1 HDAC3 HDAC8 KAT8
4 growth/size/body region MP:0005378 9.91 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 HDAC8
5 muscle MP:0005369 9.7 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 MTOR
6 no phenotypic analysis MP:0003012 9.43 HDAC1 HDAC2 HDAC3 KAT8 MTOR TBX20
7 normal MP:0002873 9.17 ABL1 HDAC1 HDAC2 HDAC3 HDAC8 MTOR

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 30 TBX20

Anatomical Context for Atrial Septal Defect 4

MalaCards organs/tissues related to Atrial Septal Defect 4:

42
Heart

Publications for Atrial Septal Defect 4

Articles related to Atrial Septal Defect 4:

# Title Authors Year
1
ASD4, a new GATA factor of Neurospora crassa, displays sequence-specific DNA binding and functions in ascus and ascospore development. ( 10998244 )
2000
2
REPAIR OF ATRIAL SEPTAL DEFECT. 4. NURSING CARE AFTER CARDIAC SURGERY. ( 14105512 )
1964

Variations for Atrial Septal Defect 4

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

76
# Symbol AA change Variation ID SNP ID
1 TBX20 p.Ile152Met VAR_036995 rs137852954
2 TBX20 p.Ile121Met VAR_073144 rs267607106

ClinVar genetic disease variations for Atrial Septal Defect 4:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX20 NM_001077653.2(TBX20): c.456C> G (p.Ile152Met) single nucleotide variant Pathogenic rs137852954 GRCh37 Chromosome 7, 35288378: 35288378
2 TBX20 NM_001077653.2(TBX20): c.456C> G (p.Ile152Met) single nucleotide variant Pathogenic rs137852954 GRCh38 Chromosome 7, 35248766: 35248766
3 TBX20 NM_001077653.2(TBX20): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic rs137852955 GRCh37 Chromosome 7, 35284632: 35284632
4 TBX20 NM_001077653.2(TBX20): c.583C> T (p.Gln195Ter) single nucleotide variant Pathogenic rs137852955 GRCh38 Chromosome 7, 35245020: 35245020
5 TBX20 NM_001077653.2(TBX20): c.363C> G (p.Ile121Met) single nucleotide variant Pathogenic rs267607106 GRCh37 Chromosome 7, 35289580: 35289580
6 TBX20 NM_001077653.2(TBX20): c.363C> G (p.Ile121Met) single nucleotide variant Pathogenic rs267607106 GRCh38 Chromosome 7, 35249968: 35249968
7 TBX20 NM_001077653.2(TBX20): c.1189C> T (p.Leu397=) single nucleotide variant Uncertain significance rs483353003 GRCh38 Chromosome 7, 35202585: 35202585
8 TBX20 NM_001077653.2(TBX20): c.*12A> T single nucleotide variant Uncertain significance rs483353000 GRCh37 Chromosome 7, 35242030: 35242030
9 TBX20 NM_001077653.2(TBX20): c.*12A> T single nucleotide variant Uncertain significance rs483353000 GRCh38 Chromosome 7, 35202418: 35202418
10 TBX20 NM_001077653.2(TBX20): c.*13T> A single nucleotide variant Uncertain significance rs483353004 GRCh38 Chromosome 7, 35202417: 35202417
11 TBX20 NM_001077653.2(TBX20): c.*13T> A single nucleotide variant Uncertain significance rs483353004 GRCh37 Chromosome 7, 35242029: 35242029
12 TBX20 NM_001077653.2(TBX20): c.1189C> T (p.Leu397=) single nucleotide variant Uncertain significance rs483353003 GRCh37 Chromosome 7, 35242197: 35242197
13 TBX20 NM_001077653.2(TBX20): c.-517C> T single nucleotide variant Uncertain significance rs483353001 GRCh37 Chromosome 7, 35293748: 35293748
14 TBX20 NM_001077653.2(TBX20): c.-517C> T single nucleotide variant Uncertain significance rs483353001 GRCh38 Chromosome 7, 35254137: 35254137
15 TBX20 NM_001077653.2(TBX20): c.1003+129T> C single nucleotide variant Uncertain significance rs483353008 GRCh37 Chromosome 7, 35243953: 35243953
16 TBX20 NM_001077653.2(TBX20): c.1003+129T> C single nucleotide variant Uncertain significance rs483353008 GRCh38 Chromosome 7, 35204341: 35204341
17 TBX20 NM_001077653.2(TBX20): c.1003+99C> T single nucleotide variant Uncertain significance rs483353007 GRCh37 Chromosome 7, 35243983: 35243983
18 TBX20 NM_001077653.2(TBX20): c.1003+99C> T single nucleotide variant Uncertain significance rs483353007 GRCh38 Chromosome 7, 35204371: 35204371
19 TBX20 NM_001077653.2(TBX20): c.1108A> C (p.Thr370Pro) single nucleotide variant Uncertain significance rs483352998 GRCh37 Chromosome 7, 35242278: 35242278
20 TBX20 NM_001077653.2(TBX20): c.1108A> C (p.Thr370Pro) single nucleotide variant Uncertain significance rs483352998 GRCh38 Chromosome 7, 35202666: 35202666
21 TBX20 NM_001077653.2(TBX20): c.1184T> G (p.Met395Arg) single nucleotide variant Uncertain significance rs483352999 GRCh37 Chromosome 7, 35242202: 35242202
22 TBX20 NM_001077653.2(TBX20): c.1184T> G (p.Met395Arg) single nucleotide variant Uncertain significance rs483352999 GRCh38 Chromosome 7, 35202590: 35202590
23 TBX20 NM_001077653.2(TBX20): c.*48T> A single nucleotide variant Uncertain significance rs483353005 GRCh37 Chromosome 7, 35241994: 35241994
24 TBX20 NM_001077653.2(TBX20): c.*48T> A single nucleotide variant Uncertain significance rs483353005 GRCh38 Chromosome 7, 35202382: 35202382
25 TBX20 NM_001077653.2(TBX20): c.546-1223dup duplication Uncertain significance rs483353006 GRCh37 Chromosome 7, 35285892: 35285892
26 TBX20 NM_001077653.2(TBX20): c.546-1223dup duplication Uncertain significance rs483353006 GRCh38 Chromosome 7, 35246280: 35246280
27 TBX20 NM_001077653.2(TBX20): c.655-18C> T single nucleotide variant Uncertain significance rs483353009 GRCh37 Chromosome 7, 35280667: 35280667
28 TBX20 NM_001077653.2(TBX20): c.655-18C> T single nucleotide variant Uncertain significance rs483353009 GRCh38 Chromosome 7, 35241055: 35241055
29 TBX20 NM_001077653.2(TBX20): c.657A> C (p.Ile219=) single nucleotide variant Uncertain significance rs483353002 GRCh37 Chromosome 7, 35280647: 35280647
30 TBX20 NM_001077653.2(TBX20): c.657A> C (p.Ile219=) single nucleotide variant Uncertain significance rs483353002 GRCh38 Chromosome 7, 35241035: 35241035
31 TBX20 NM_001077653.2(TBX20): c.925T> G (p.Tyr309Asp) single nucleotide variant Uncertain significance rs111862418 GRCh37 Chromosome 7, 35244160: 35244160
32 TBX20 NM_001077653.2(TBX20): c.925T> G (p.Tyr309Asp) single nucleotide variant Uncertain significance rs111862418 GRCh38 Chromosome 7, 35204548: 35204548
33 TBX20 NM_001077653.2(TBX20): c.1017A> C (p.Thr339=) single nucleotide variant Benign rs112054378 GRCh37 Chromosome 7, 35242369: 35242369
34 TBX20 NM_001077653.2(TBX20): c.1017A> C (p.Thr339=) single nucleotide variant Benign rs112054378 GRCh38 Chromosome 7, 35202757: 35202757
35 TBX20 NM_001077653.2(TBX20): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs199774220 GRCh37 Chromosome 7, 35244154: 35244154
36 TBX20 NM_001077653.2(TBX20): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs199774220 GRCh38 Chromosome 7, 35204542: 35204542
37 TBX20 NM_001077653.2(TBX20): c.39T> C (p.Ser13=) single nucleotide variant Benign rs336283 GRCh37 Chromosome 7, 35293193: 35293193
38 TBX20 NM_001077653.2(TBX20): c.39T> C (p.Ser13=) single nucleotide variant Benign rs336283 GRCh38 Chromosome 7, 35253582: 35253582

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:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 HDAC1 HDAC2 HDAC3 HDAC8 MTOR RPS2
2
Show member pathways
12.94 HDAC1 HDAC2 HDAC3 HDAC8 MTOR
3
Show member pathways
12.89 ABL1 HDAC1 HDAC2 HDAC3 HDAC8
4
Show member pathways
12.86 HDAC1 HDAC2 HDAC3 HDAC8 MTOR
5
Show member pathways
12.75 HDAC1 HDAC2 HDAC3 HDAC8 MTOR
6
Show member pathways
12.74 HDAC1 HDAC2 HDAC3 HDAC8 TBL1X
7 12.72 ABL1 EGLN2 HDAC1 HDAC2 MTOR
8
Show member pathways
12.47 HDAC1 HDAC2 HDAC3 HDAC8 MTOR
9 12.3 HDAC1 HDAC2 HDAC3 KAT8 MTA1
10
Show member pathways
12.24 HDAC1 HDAC2 HDAC3 HDAC8
11 12.23 ABL1 HDAC1 HDAC2 HDAC3 HDAC8
13 12.18 HDAC1 HDAC2 HDAC3 HDAC8
14
Show member pathways
12.07 HDAC1 HDAC2 MTA1
15
Show member pathways
12.07 HDAC1 HDAC2 HDAC3 HDAC8 KAT8 MTA1
16
Show member pathways
12.04 ABL1 HDAC1 HDAC2 HDAC3 HDAC8
17 12.03 ABL1 HDAC1 HDAC2
18 12.02 ABL1 HDAC1 MTOR
19
Show member pathways
12.01 HDAC1 HDAC2 MTOR
20
Show member pathways
11.99 HDAC1 HDAC2 MTOR
21 11.94 HDAC1 HDAC2 HDAC3 HDAC8
22 11.89 HDAC1 HDAC2 HDAC3 MTOR
23
Show member pathways
11.85 HDAC1 HDAC2 MTA1
24 11.82 HDAC1 HDAC2 HDAC3 HDAC8
25 11.69 HDAC1 HDAC2 TBL1X
26
Show member pathways
11.68 HDAC1 HDAC2 HDAC3 HDAC8
27 11.58 HDAC1 HDAC2 HDAC3 HDAC8
28 11.55 ABL1 HDAC1 HDAC2 MTOR
29 11.52 HDAC1 HDAC2 HDAC3 HDAC8
30 11.49 ABL1 HDAC1 HDAC3
31
Show member pathways
11.34 HDAC1 HDAC2 HDAC3 HDAC8
32 11.16 HDAC1 HDAC2 HDAC3 HDAC8
33 11.06 HDAC1 HDAC3
34 11.02 HDAC1 HDAC2 HDAC3 HDAC8
35 10.81 HDAC1 MTOR
36 10.8 HDAC1 HDAC2 HDAC3 HDAC8

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 nucleoplasm GO:0005654 9.73 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 HDAC8
2 mitotic spindle GO:0072686 9.58 HDAC3 RPS3 TBL1X
3 transcriptional repressor complex GO:0017053 9.5 HDAC1 HDAC3 TBL1X
4 small ribosomal subunit GO:0015935 9.46 RPS2 RPS3
5 Sin3 complex GO:0016580 9.43 HDAC1 HDAC2
6 NuRD complex GO:0016581 9.43 HDAC1 HDAC2 MTA1
7 Sin3-type complex GO:0070822 9.37 HDAC1 HDAC2
8 histone deacetylase complex GO:0000118 9.02 HDAC1 HDAC2 HDAC3 HDAC8 TBL1X
9 cytoplasm GO:0005737 10.22 ABL1 ENPEP HDAC1 HDAC2 HDAC3 HDAC8
10 nucleus GO:0005634 10 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 HDAC8

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 HDAC1 HDAC2 HDAC3 HDAC8 KAT8 TBL1X
2 positive regulation of transcription, DNA-templated GO:0045893 9.96 HDAC1 HDAC2 KAT8 TBL1X TBX20
3 negative regulation of transcription, DNA-templated GO:0045892 9.95 HDAC1 HDAC2 HDAC3 KAT8 TBX20
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 HDAC1 HDAC2 HDAC3 HDAC8 MTA1 TBL1X
5 positive regulation of protein phosphorylation GO:0001934 9.79 ABL1 HDAC3 MTOR
6 rhythmic process GO:0048511 9.77 HDAC1 HDAC2 MTA1
7 chromatin organization GO:0006325 9.77 HDAC1 HDAC2 HDAC3 HDAC8 KAT8
8 cellular response to hydrogen peroxide GO:0070301 9.69 ABL1 HDAC2 RPS3
9 circadian regulation of gene expression GO:0032922 9.67 HDAC1 HDAC2 MTA1
10 negative regulation of protein ubiquitination GO:0031397 9.63 HDAC8 MTOR RPS3
11 ATP-dependent chromatin remodeling GO:0043044 9.61 HDAC1 HDAC2
12 negative regulation of myotube differentiation GO:0010832 9.59 HDAC1 HDAC3
13 cellular response to dopamine GO:1903351 9.58 ABL1 HDAC2
14 eyelid development in camera-type eye GO:0061029 9.58 HDAC1 HDAC2
15 protein deacetylation GO:0006476 9.57 HDAC1 HDAC3
16 epidermal cell differentiation GO:0009913 9.54 HDAC1 HDAC2
17 positive regulation of receptor biosynthetic process GO:0010870 9.52 HDAC1 HDAC2
18 positive regulation of oligodendrocyte differentiation GO:0048714 9.5 HDAC1 HDAC2 MTOR
19 hair follicle placode formation GO:0060789 9.48 HDAC1 HDAC2
20 histone H3 deacetylation GO:0070932 9.46 HDAC1 HDAC2 HDAC3 HDAC8
21 fungiform papilla formation GO:0061198 9.4 HDAC1 HDAC2
22 histone H4 deacetylation GO:0070933 9.26 HDAC1 HDAC2 HDAC3 HDAC8
23 histone deacetylation GO:0016575 9.1 HDAC1 HDAC2 HDAC3 HDAC8 MTA1 TBL1X

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.84 HDAC1 HDAC2 MTA1 TBX20
2 chromatin binding GO:0003682 9.81 HDAC1 HDAC2 HDAC3 MTA1
3 enzyme binding GO:0019899 9.8 HDAC1 HDAC2 HDAC3 KAT8 RPS2 RPS3
4 transcription corepressor activity GO:0003714 9.76 HDAC1 HDAC3 MTA1 TBL1X
5 transcription factor binding GO:0008134 9.7 HDAC1 HDAC2 HDAC3 HDAC8 KAT8 RPS3
6 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.67 HDAC1 HDAC2 MTA1
7 histone deacetylase binding GO:0042826 9.67 HDAC1 HDAC2 HDAC3 MTA1
8 RNA polymerase II repressing transcription factor binding GO:0001103 9.61 HDAC1 HDAC2 MTA1
9 NF-kappaB binding GO:0051059 9.58 HDAC1 HDAC2 HDAC3
10 deacetylase activity GO:0019213 9.48 HDAC1 HDAC2
11 protein deacetylase activity GO:0033558 9.43 HDAC1 HDAC2 HDAC3
12 NAD-dependent histone deacetylase activity (H3-K14 specific) GO:0032041 9.26 HDAC1 HDAC2 HDAC3 HDAC8
13 histone deacetylase activity GO:0004407 9.02 HDAC1 HDAC2 HDAC3 HDAC8 MTA1
14 protein binding GO:0005515 10.34 ABL1 EGLN2 HDAC1 HDAC2 HDAC3 HDAC8

Sources for Atrial Septal Defect 4

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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