MCID: ATR031
MIFTS: 39

Atrial Septal Defect 4

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Atrial Septal Defect 4

MalaCards integrated aliases for Atrial Septal Defect 4:

Name: Atrial Septal Defect 4 57 12 75 29 13 6 73
Asd4 57 12 75
Atrial Heart Septal Defect 4 12 15
Atrial Septal Defect, Ostium Secundum Type 59
Septal Defect, Atrial, Type 4 40
Asd, Ostium Secundum Type 59

Characteristics:

HPO:

32
atrial septal defect 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611363
Disease Ontology 12 DOID:0110109
ICD10 33 Q21.1
Orphanet 59 ORPHA99103
UMLS via Orphanet 74 C0344724
ICD10 via Orphanet 34 Q21.1
MedGen 42 C1969657
MeSH 44 D006344
SNOMED-CT via HPO 69 263681008 204317008 7305005
UMLS 73 C1969657

Summaries for Atrial Septal Defect 4

UniProtKB/Swiss-Prot : 75 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 patent foramen ovale and heart, malformation of. An important gene associated with Atrial Septal Defect 4 is TBX20 (T-Box 20), and among its related pathways/superpathways are Cardiac conduction and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Affiliated tissues include heart, and related phenotypes are patent foramen ovale and coarctation of aorta

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 4 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 31.5 GATA4 MYH6 NKX2-5 TBX20 TBX5
2 heart, malformation of 10.7 MYH6 TBX5
3 partial atrioventricular canal 10.6 GATA4 GATA6
4 complete atrioventricular canal-ventricle hypoplasia syndrome 10.6 GATA4 GATA6
5 tricuspid valve disease 10.5 GATA6 NKX2-5
6 ebstein anomaly 10.4 GATA4 NKX2-5
7 hypoplastic left heart syndrome 10.4 MYH6 NKX2-5 TBX20
8 pulmonary valve stenosis 10.4 GATA4 PTPN11 TBX5
9 holt-oram syndrome 10.4 MYH6 NKX2-5 TBX5
10 atrioventricular block 10.3 GATA4 NKX2-5 TBX5
11 char syndrome 10.2 CITED2 NKX2-5 TBX5
12 familial atrial fibrillation 10.2 GATA4 GATA6 NKX2-5
13 pulmonary valve disease 10.0 GATA4 GATA6 PTPN11 TBX5
14 hyporeninemic hypoaldosteronism 10.0 ACE REN
15 renal artery obstruction 10.0 ACE REN
16 left ventricular noncompaction 10.0 ACTC1 MYH6 NKX2-5
17 hypoaldosteronism 10.0 ACE REN
18 double outlet right ventricle 10.0 GATA4 GATA6 NKX2-5 TBX20
19 hypertensive encephalopathy 10.0 ACE REN
20 hypertensive retinopathy 10.0 ACE REN
21 renal artery disease 10.0 ACE REN
22 atrioventricular septal defect 10.0 GATA4 GATA6 NKX2-5 TBX5
23 mitral valve insufficiency 10.0 ACE TBX5
24 horseshoe kidney 10.0 ACTC1 REN
25 patent ductus arteriosus 1 10.0 GATA4 GATA6 PTPN11 TLL1
26 hypertension, diastolic 10.0 ACE REN
27 orthostatic proteinuria 9.9 ACE REN
28 malignant essential hypertension 9.9 ACE REN
29 anuria 9.9 ACE REN
30 malignant hypertension 9.8 ACE REN
31 fibromuscular dysplasia 9.8 ACE REN
32 atrial fibrillation 9.8 ACE GATA6 TBX5
33 intrinsic cardiomyopathy 9.8 ACE ACTC1 MYH6
34 renal hypertension 9.7 ACE REN
35 aortic valve disease 2 9.7 ACE REN TBX5
36 congestive heart failure 9.6 ACE MYH6 REN
37 atrial septal defect 3 9.6 CITED2 ENPEP MYH6
38 hepatorenal syndrome 9.6 ACE REN
39 ventricular septal defect 9.5 CITED2 GATA4 GATA6 NKX2-5 TBX5
40 renal tubular dysgenesis 9.5 ACE REN
41 hypertrophic cardiomyopathy 9.4 ACE ACTC1 MYH6 PTPN11
42 pure autonomic failure 9.2 ACE REN
43 heart septal defect 9.2 CITED2 GATA4 GATA6 NKX2-5 TBX20 TBX5
44 atrial heart septal defect 8.4 ACTC1 GATA4 GATA6 MYH6 NKX2-5 TBX20
45 tetralogy of fallot 8.3 CITED2 GATA4 GATA6 NKX2-5 PTPN11 REN
46 dilated cardiomyopathy 7.8 ACE ACTC1 GATA4 MYH6 NKX2-5 REN
47 heart disease 6.7 ACE ACTC1 CITED2 GATA4 GATA6 MYH6

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

Clinical features from OMIM:

611363

Human phenotypes related to Atrial Septal Defect 4:

32
# Description HPO Frequency HPO Source Accession
1 patent foramen ovale 32 occasional (7.5%) HP:0001655
2 coarctation of aorta 32 occasional (7.5%) HP:0001680

MGI Mouse Phenotypes related to Atrial Septal Defect 4:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACE ACTC1 CITED2 GATA4 GATA6 MYH6
2 growth/size/body region MP:0005378 10.22 ACE ACTC1 CITED2 GATA4 GATA6 NKX2-5
3 homeostasis/metabolism MP:0005376 10.21 ACE ACTC1 CITED2 GATA4 GATA6 MYH6
4 hematopoietic system MP:0005397 10.06 ACE CITED2 GATA4 GATA6 NKX2-5 PTPN11
5 embryo MP:0005380 10.04 TBX5 CITED2 GATA4 GATA6 NKX2-5 PTPN11
6 mortality/aging MP:0010768 10.03 PTPN11 REN TBX20 TBX5 TLL1 ACE
7 immune system MP:0005387 10.01 TLL1 ACE CITED2 ENPEP MYH6 NKX2-5
8 limbs/digits/tail MP:0005371 9.85 CITED2 GATA4 GATA6 PTPN11 TBX5 TLL1
9 muscle MP:0005369 9.85 TLL1 ACTC1 GATA4 GATA6 MYH6 NKX2-5
10 liver/biliary system MP:0005370 9.8 ACE GATA4 GATA6 MYH6 PTPN11 TLL1
11 normal MP:0002873 9.61 ACTC1 CITED2 GATA4 GATA6 NKX2-5 PTPN11
12 respiratory system MP:0005388 9.1 CITED2 GATA4 GATA6 MYH6 NKX2-5 PTPN11

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:

41
Heart

Publications for Atrial Septal Defect 4

Variations for Atrial Septal Defect 4

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

75
# 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 22)
# 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 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
8 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh38 Chromosome 12, 112450364: 112450364
9 Translocation Likely pathogenic
10 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
11 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh37 Chromosome 6, 149700090: 149700090
12 TAB2 NM_015093.5(TAB2): c.1039C> T (p.Arg347Ter) single nucleotide variant Likely pathogenic rs1057518422 GRCh38 Chromosome 6, 149378954: 149378954
13 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 114793673: 114793673
14 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 114355868: 114355868
15 TBX20 NM_001077653.2(TBX20): c.1017A> C (p.Thr339=) single nucleotide variant Benign rs112054378 GRCh37 Chromosome 7, 35242369: 35242369
16 TBX20 NM_001077653.2(TBX20): c.1017A> C (p.Thr339=) single nucleotide variant Benign rs112054378 GRCh38 Chromosome 7, 35202757: 35202757
17 TBX20 NM_001077653.2(TBX20): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs199774220 GRCh37 Chromosome 7, 35244154: 35244154
18 TBX20 NM_001077653.2(TBX20): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs199774220 GRCh38 Chromosome 7, 35204542: 35204542
19 TBX20 NM_001077653.2(TBX20): c.39T> C (p.Ser13=) single nucleotide variant Benign rs336283 GRCh38 Chromosome 7, 35253582: 35253582
20 TBX20 NM_001077653.2(TBX20): c.39T> C (p.Ser13=) single nucleotide variant Benign rs336283 GRCh37 Chromosome 7, 35293193: 35293193
21 PKD1 NM_001009944.2(PKD1): c.226C> T (p.His76Tyr) single nucleotide variant Uncertain significance rs932577597 GRCh38 Chromosome 16, 2119368: 2119368
22 PKD1 NM_001009944.2(PKD1): c.226C> T (p.His76Tyr) single nucleotide variant Uncertain significance rs932577597 GRCh37 Chromosome 16, 2169369: 2169369

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 GATA4 MYH6 NKX2-5 TBX5
2
Show member pathways
11.89 GATA4 NKX2-5 TBX5
3
Show member pathways
11.85 ACE ACTC1 MYH6
4
Show member pathways
11.82 ACE ENPEP GATA4 REN
5 11.67 GATA4 NKX2-5 TBX5
6
Show member pathways
11.4 ACE ENPEP REN
7 11.16 ACTC1 GATA4 MYH6 NKX2-5 TBX20 TBX5
8 10.76 GATA4 GATA6 NKX2-5 PTPN11 TBX20 TBX5
9 10.75 GATA4 NKX2-5
10 10.11 ACTC1 GATA4 NKX2-5

GO Terms for Atrial Septal Defect 4

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.92 ACTC1 GATA4 GATA6 REN
2 in utero embryonic development GO:0001701 9.85 CITED2 GATA6 MYH6
3 male gonad development GO:0008584 9.8 CITED2 GATA4 GATA6 REN
4 outflow tract morphogenesis GO:0003151 9.76 CITED2 NKX2-5 TBX20
5 regulation of blood pressure GO:0008217 9.76 ACE ENPEP MYH6 REN
6 cardiac muscle contraction GO:0060048 9.74 ACTC1 MYH6 NKX2-5
7 heart development GO:0007507 9.73 CITED2 GATA4 GATA6 NKX2-5 PTPN11 TBX5
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.72 GATA6 TBX20 TBX5
9 ventricular septum development GO:0003281 9.71 CITED2 GATA4 TBX5
10 outflow tract septum morphogenesis GO:0003148 9.69 GATA6 NKX2-5 TBX20
11 spleen development GO:0048536 9.68 CITED2 NKX2-5
12 ventricular septum morphogenesis GO:0060412 9.68 CITED2 NKX2-5
13 positive regulation of BMP signaling pathway GO:0030513 9.67 GATA4 GATA6
14 tissue development GO:0009888 9.67 GATA4 GATA6
15 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GATA4 GATA6
16 cardiac muscle tissue development GO:0048738 9.66 GATA6 NKX2-5
17 embryonic heart tube development GO:0035050 9.66 NKX2-5 TBX20
18 negative regulation of cardiac muscle cell proliferation GO:0060044 9.65 CITED2 TBX5
19 peptide catabolic process GO:0043171 9.65 ACE ENPEP
20 actin filament-based movement GO:0030048 9.65 ACTC1 MYH6
21 cardiac muscle tissue morphogenesis GO:0055008 9.65 ACTC1 NKX2-5 TBX20
22 adult heart development GO:0007512 9.64 MYH6 NKX2-5
23 amyloid-beta metabolic process GO:0050435 9.64 ACE REN
24 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 GATA6 MYH6
25 cardiac right ventricle morphogenesis GO:0003215 9.63 GATA4 TBX20
26 heart looping GO:0001947 9.62 CITED2 GATA4 NKX2-5 TBX20
27 cardiac ventricle morphogenesis GO:0003208 9.61 GATA4 NKX2-5
28 heart contraction GO:0060047 9.61 ACE ACTC1 NKX2-5
29 intestinal epithelial cell differentiation GO:0060575 9.6 GATA4 GATA6
30 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.59 ACE ENPEP
31 embryonic heart tube left/right pattern formation GO:0060971 9.58 CITED2 NKX2-5
32 angiotensin maturation GO:0002003 9.58 ACE ENPEP REN
33 bundle of His development GO:0003166 9.56 NKX2-5 TBX5
34 endocardial cushion development GO:0003197 9.54 CITED2 GATA4 TBX5
35 cardiac muscle cell differentiation GO:0055007 9.46 GATA4 GATA6 NKX2-5 TBX5
36 atrial septum morphogenesis GO:0060413 9.26 GATA4 NKX2-5 TBX20 TBX5
37 positive regulation of cardioblast differentiation GO:0051891 8.92 GATA4 GATA6 NKX2-5 TBX5
38 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 CITED2 GATA4 GATA6 NKX2-5 TBX20 TBX5
39 transcription by RNA polymerase II GO:0006366 10.02 CITED2 GATA4 GATA6 NKX2-5 TBX20
40 positive regulation of transcription, DNA-templated GO:0045893 10 CITED2 GATA4 GATA6 NKX2-5 TBX20 TBX5

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.72 ACE ENPEP GATA4 GATA6 TLL1
2 chromatin binding GO:0003682 9.71 CITED2 GATA4 GATA6 NKX2-5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.67 GATA6 NKX2-5 TBX20 TBX5
4 DNA binding transcription factor activity GO:0003700 9.63 CITED2 GATA4 GATA6 NKX2-5 TBX20 TBX5
5 metallopeptidase activity GO:0008237 9.61 ACE ENPEP TLL1
6 transcription factor binding GO:0008134 9.56 GATA4 GATA6 NKX2-5 TBX5
7 RNA polymerase II transcription factor binding GO:0001085 9.13 GATA4 GATA6 TBX20
8 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.92 GATA4 GATA6 NKX2-5 TBX5

Sources for Atrial Septal Defect 4

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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