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MCID: ATR010
MIFTS: 57

Atrial Heart Septal Defect

Categories: Cardiovascular diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Atrial Heart Septal Defect

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MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 12 15
Atrial Septal Defect 12 76 37 29 6 15
Congenital Atrial Septal Defect 12
Interauricular Septal Defect 12
Heart Septal Defects, Atrial 44
Interatrial Septal Defect 12
Auricular Septal Defect 12
Atrial Septal Defects 55
Septal Defect, Atrial 40
Atrioseptal Defect 12

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:1882
ICD10 33 Q21.1
MeSH 44 D006344
NCIt 50 C84473
SNOMED-CT 68 69524004 70142008
KEGG 37 H00546
UMLS 73 C0018817
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Summaries for Atrial Heart Septal Defect

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Disease Ontology : 12 A heart septal defect located in in the septum that separates the two atria of the heart.

MalaCards based summary : Atrial Heart Septal Defect, also known as atrial septal defect, is related to atrial septal defect 1 and patent foramen ovale. An important gene associated with Atrial Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. Affiliated tissues include heart, brain and lung, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 76 Atrial septal defect (ASD) is a heart defect in which blood flows between the atria (upper chambers) of... more...

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Related Diseases for Atrial Heart Septal Defect

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Diseases in the Atrial Heart Septal Defect family:

Atrial Heart Septal Defect 7

Diseases related to Atrial Heart Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 290)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 1 33.4 ASD1 TBX5
2 patent foramen ovale 33.4 ACTC1 CLNK ECI1 F2 GATA4 MYH6
3 interatrial communication 33.2 RPL5 NKX2-5 DMD
4 holt-oram syndrome 32.9 TBX5 NKX2-5 MYH6
5 tricuspid atresia 32.8 NKX2-6 GDF1 CRELD1
6 atrioventricular septal defect 32.5 TBX5 NKX2-6 NKX2-5 GDF1 GATA4 CRELD1
7 ventricular septal defect 31.2 TBX5 NKX2-6 NKX2-5 GDF1 GATA4
8 pulmonary valve stenosis 31.1 NKX2-6 GATA4 CRELD1
9 patent ductus arteriosus 1 30.9 TLL1 NKX2-6 NKX2-5 GDF1 GATA4 CRELD1
10 hypoplastic left heart syndrome 30.8 TBX20 NKX2-6 NKX2-5 MYH6
11 atrioventricular block 30.8 TBX5 NKX2-5 GATA4
12 tetralogy of fallot 30.7 TBX5 TBX20 NKX2-6 NKX2-5 GDF1 GATA4
13 tricuspid valve insufficiency 30.6 ACVRL1 CRELD1
14 transposition of the great arteries 30.6 GDF1 NKX2-5
15 total anomalous pulmonary venous return 1 30.6 NKX2-6 GDF1 CRELD1
16 heart disease 30.5 TBX5 TBX20 NKX2-6 NKX2-5 MYH6 GDF1
17 cardiac tamponade 30.5 ACVRL1 F2
18 ebstein anomaly 30.4 NKX2-6 NKX2-5 GDF1 GATA4
19 aortic valve disease 1 30.4 TBX20 NKX2-6 NKX2-5 CRELD1
20 dilated cardiomyopathy 30.1 TBX5 TBX20 NKX2-5 MYH6 GATA4 DMD
21 left ventricular noncompaction 30.1 NKX2-5 MYH6 DMD ACTC1
22 visceral heterotaxy 30.1 CRELD1 GDF1 NKX2-6
23 double outlet right ventricle 30.0 TBX20 NKX2-6 NKX2-5 GDF1 GATA4 CRELD1
24 atrial septal defect 7 with or without atrioventricular conduction defects 12.8
25 hydrops fetalis, nonimmune, and/or atrial septal defect 12.6
26 atrial septal defect sinus venosus 12.6
27 atrial septal defect coronary sinus 12.6
28 atrial heart septal defect 7 12.6
29 atrial septal defect ostium primum 12.3
30 brachydactyly, type e, with atrial septal defect, type ii 12.3
31 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.3
32 atrial septal defect, secundum, with various cardiac and noncardiac defects 12.3
33 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.3
34 tarp syndrome 12.1
35 atrial septal defect 2 12.0
36 atrial septal defect 4 12.0
37 atrial septal defect 5 12.0
38 atrial septal defect 6 12.0
39 atrial septal defect 3 12.0
40 atrial septal defect 8 11.9
41 atrial septal defect 9 11.9
42 neutropenia, severe congenital, 4, autosomal recessive 11.8
43 lymphedema, cardiac septal defects, and characteristic facies 11.7
44 hypoplastic right heart syndrome 11.6
45 eisenmenger syndrome 11.5
46 noonan syndrome 1 11.5
47 irons bhan syndrome 11.4
48 shashi-pena syndrome 11.4
49 cardiofaciocutaneous syndrome 1 11.3
50 atrioventricular septal defect 4 11.3

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



Diseases related to Atrial Heart Septal Defect
Sources

Symptoms & Phenotypes for Atrial Heart Septal Defect

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MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 ACTC1 ACVRL1 CRELD1 DMD F2 FOXC1
2 growth/size/body region MP:0005378 10.18 ACTC1 ACVRL1 DMD F2 FOXC1 GATA4
3 homeostasis/metabolism MP:0005376 10.18 ACTC1 ACVRL1 DMD ECI1 F2 FOXC1
4 embryo MP:0005380 10.13 ACVRL1 CRELD1 F2 FOXC1 GATA4 GDF1
5 mortality/aging MP:0010768 10.1 ACTC1 ACVRL1 CRELD1 DMD F2 FOXC1
6 digestive/alimentary MP:0005381 10.06 ACVRL1 DMD F2 FOXC1 GATA4 GDF1
7 liver/biliary system MP:0005370 9.87 ACVRL1 DMD FOXC1 GATA4 GDF1 MYH6
8 muscle MP:0005369 9.85 ACTC1 ACVRL1 DMD FOXC1 GATA4 MYH6
9 normal MP:0002873 9.73 ACTC1 ACVRL1 DMD F2 FOXC1 GATA4
10 respiratory system MP:0005388 9.28 ACVRL1 DMD F2 FOXC1 GATA4 GDF1
Sources

Drugs & Therapeutics for Atrial Heart Septal Defect

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Search Clinical Trials , NIH Clinical Center for Atrial Heart Septal Defect

Cochrane evidence based reviews: heart septal defects, atrial

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Genetic Tests for Atrial Heart Septal Defect

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Genetic tests related to Atrial Heart Septal Defect:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 29
Sources

Anatomical Context for Atrial Heart Septal Defect

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MalaCards organs/tissues related to Atrial Heart Septal Defect:

41
Heart, Brain, Lung, Testes, Liver, Endothelial, T Cells

The Foundational Model of Anatomy Ontology organs/tissues related to Atrial Heart Septal Defect:

19
In The Septum
Sources

Publications for Atrial Heart Septal Defect

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Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 1353)
# Title Authors Year
1
Safety and efficacy of transcatheter closure of atrial septal defect type II under transthoracic echocardiographic guidance: A case control study. ( 30337795 )
2019
2
State-of-the-Art Atrial Septal Defect Closure Devices for Congenital Heart. ( 30449418 )
2019
3
Intracardiac echocardiography for percutaneous patent foramen ovale and atrial septal defect occlusion. ( 29374291 )
2018
4
A new method of tracheoesophageal fistula treatment: Using an atrial septal defect occluder device for closure-The first Turkish experience. ( 29730753 )
2018
5
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
6
Successful Catheter Treatment Using Pre-Operative 3D Organ Model Simulation for Atrial Septal Defect With Dextrocardia and Interrupted Inferior Vena Cava toA theA Superior Vena Cava. ( 29605245 )
2018
7
Infective Endocarditis Associated with Atrial Septal Defect in an Intravenous Drug Abuser: A Case Report. ( 29922523 )
2018
8
Iatrogenic atrial septal defect with right-to-left shunt following atrial fibrillation ablation in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 29755946 )
2018
9
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome. ( 30263129 )
2018
10
Interventional Therapy Versus Medical Therapy for Secundum Atrial Septal Defect: A Systematic Review (Part 2) for the 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30121241 )
2018
11
Simplified percutaneous closure of patent foramen ovale and atrial septal defect with use of plain fluoroscopy: Single operator experience in 110 consecutive patients. ( 29455783 )
2018
12
Reexpansion Pulmonary Edema After Atrial Septal Defect Closure Through Right-Sided Minithoracotomy. ( 29626458 )
2018
13
Atrial septal defect with pulmonary hypertension: when/how can we consider closure? ( 30305949 )
2018
14
Device closure of atrial septal defect with severe pulmonary hypertension in adults: Patient selection with early and intermediate term results. ( 30346095 )
2018
15
Combined perventricular closure of ventricular septal defect and atrial septal defect via lower ministernotomy. ( 30541582 )
2018
16
Hybrid muscular ventricular septal defect closure in a 4.5 kg infant followed by sildenafil treatment and transcatheter atrial septal defect occlusion. ( 29743916 )
2018
17
Atrial septal defect (ASD) device trans-catheter closure: limitations. ( 30305952 )
2018
18
Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES). ( 29505555 )
2018
19
Analysis of Angiotensin Converting Enzyme, Endothelial Nitric Oxide Synthase & Serotonin Gene Polymorphisms among Atrial Septal Defect Subjects with and without Pulmonary Arterial Hypertension. ( 30231548 )
2018
20
Clinics in diagnostic imaging (186). Atrial septal defect with pulmonary arterial hypertension. ( 29799054 )
2018
21
The prevalence of pulmonary arterial hypertension before and after atrial septal defect closure at adult age: A systematic review. ( 29910057 )
2018
22
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report. ( 29361989 )
2018
23
Functional and structural studies of tolloid-like 1 (TLL1) mutants associated with atrial-septal defect 6 (ASD6). ( 30538173 )
2018
24
Successful Transcatheter Atrial Septal Defect Closure Prior to Coronary Artery Bypass Grafting Using Anti-Congestive Therapies and Intraaortic Balloon Pumping in a Patient with Severe Ischemic Cardiomyopathy and Triple-Vessel Coronary Artery Disease. ( 30369566 )
2018
25
Chronic Severe Mitral Regurgitation with Normal Left Ventricular Size - A Case with Coexisting Atrial Septal Defect. ( 29911013 )
2018
26
Nickel hypersensitivity following closure of atrial septal defect: A case report and review of the literature. ( 29380348 )
2018
27
Transcatheter closure of a sinus venosus atrial septal defect using 3D printing and image fusion guidance. ( 29897667 )
2018
28
Predictors of residual tricuspid regurgitation after percutaneous closure of atrial septal defect. ( 29905827 )
2018
29
Focus on the Perimeter and Skip the Balloon: Can Atrial Septal Defect Be Percutaneously Closed Without Balloon Sizing in the Era of 3-Dimensional Echocardiography? ( 29909100 )
2018
30
Pulmonary artery-to-left atrial fistula discovered after the closure of atrial septal defect: A rare clinical scenario. ( 29922023 )
2018
31
Iatrogenic atrial septal defect post mitral valve in valve implantation. ( 29937382 )
2018
32
Does Prophylactic Ibuprofen After Surgical Atrial Septal Defect Repair Decrease the Rate of Post-Pericardiotomy Syndrome? ( 29948034 )
2018
33
Three-Dimensional Echocardiographic Guidance of Right Heart Catheterization Decreases Radiation Exposure in Atrial Septal Defect Closures. ( 29958759 )
2018
34
Ostium secundum type of atrial septal defect in a rabbit. ( 29973434 )
2018
35
Successful simultaneous transcatheter treatment for a secundum atrial septal defect complicated by valvular pulmonary stenosis in an infant. ( 29991370 )
2018
36
Early experience of transcatheter correction of superior sinus venosus atrial septal defect with partial anomalous pulmonary venous drainage. ( 30012542 )
2018
37
Early onset of cyanosis in a patient with atrial septal defect: Transesophageal echocardiography reveals the underlying mechanism. ( 30052217 )
2018
38
Long term outcomes among adults post transcatheter atrial septal defect closure: Systematic review and meta-analysis. ( 30054146 )
2018
39
Effects of reducing frame rate from 7.5 to 4 frames per second on radiation exposure in transcatheter atrial septal defect closure. ( 30056809 )
2018
40
A Novel Wire Is Effective for Echo-Guiding Percutaneous Atrial Septal Defect Closure: A Preclinical Study. ( 30057731 )
2018
41
Long term evaluation of electromechanical delay in patients with atrial septal defect after transcatheter closure. ( 30062536 )
2018
42
Recent review of transcatheter closure of atrial septal defect. ( 30063008 )
2018
43
Late dislocation of an Amplatzer septal occluder in the chordae tendineae of the tricuspid valve after failed transcatheter closure of atrial septal defect. ( 30063983 )
2018
44
Percutaneous closure of residual shunting in a patient with a fenestrated atrial septal defect occluder: A case report. ( 30075536 )
2018
45
A novel totally biodegradable device for effective atrial septal defect closure: A 2-year study in sheep. ( 30079559 )
2018
46
Right atrial function by speckle tracking echocardiography in atrial septal defect: Prediction of atrial fibrillation. ( 30117180 )
2018
47
Dexmedetomidine for Transesophageal Echocardiography-Guided Percutaneous Closure of an Atrial Septal Defect in an Infant without Endotracheal Intubation. ( 30127233 )
2018
48
Surgical outcomes of modified-maze procedures in adults with atrial septal defect. ( 30178212 )
2018
49
Correction to: Iatrogenic atrial septal defect: reassurance or inquisitiveness. ( 30187249 )
2018
50
Study of biodegradable occluder of atrial septal defect in a porcine model. ( 30196545 )
2018
Sources

Variations for Atrial Heart Septal Defect

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ClinVar genetic disease variations for Atrial Heart Septal Defect:

6 (show top 50) (show all 424)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 GRCh37 Chromosome 11, 17426099: 17426099
2 ABCC8 NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 GRCh38 Chromosome 11, 17404552: 17404552
3 MYH6 NM_002471.3(MYH6): c.1753G> A (p.Gly585Ser) single nucleotide variant Uncertain significance rs150415679 GRCh37 Chromosome 14, 23868075: 23868075
4 MYH6 NM_002471.3(MYH6): c.1753G> A (p.Gly585Ser) single nucleotide variant Uncertain significance rs150415679 GRCh38 Chromosome 14, 23398866: 23398866
5 MYH6 NM_002471.3(MYH6): c.3979-8delC deletion Conflicting interpretations of pathogenicity rs193922652 GRCh37 Chromosome 14, 23858272: 23858272
6 MYH6 NM_002471.3(MYH6): c.3979-8delC deletion Conflicting interpretations of pathogenicity rs193922652 GRCh38 Chromosome 14, 23389063: 23389063
7 MYH6 NM_002471.3(MYH6): c.4651-12A> C single nucleotide variant Conflicting interpretations of pathogenicity rs193922653 GRCh37 Chromosome 14, 23855844: 23855844
8 MYH6 NM_002471.3(MYH6): c.4651-12A> C single nucleotide variant Conflicting interpretations of pathogenicity rs193922653 GRCh38 Chromosome 14, 23386635: 23386635
9 MYH6 NM_002471.3(MYH6): c.4959+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730765 GRCh37 Chromosome 14, 23855511: 23855511
10 MYH6 NM_002471.3(MYH6): c.4959+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730765 GRCh38 Chromosome 14, 23386302: 23386302
11 MYH6 NM_002471.3(MYH6): c.999C> T (p.Thr333=) single nucleotide variant Benign/Likely benign rs78107039 GRCh37 Chromosome 14, 23871909: 23871909
12 MYH6 NM_002471.3(MYH6): c.999C> T (p.Thr333=) single nucleotide variant Benign/Likely benign rs78107039 GRCh38 Chromosome 14, 23402700: 23402700
13 NKX2-5 NM_004387.3(NKX2-5): c.543G> A (p.Gln181=) single nucleotide variant Benign/Likely benign rs72554028 GRCh37 Chromosome 5, 172660004: 172660004
14 NKX2-5 NM_004387.3(NKX2-5): c.543G> A (p.Gln181=) single nucleotide variant Benign/Likely benign rs72554028 GRCh38 Chromosome 5, 173233001: 173233001
15 MYH6 NM_002471.3(MYH6): c.1071C> T (p.Ile357=) single nucleotide variant Conflicting interpretations of pathogenicity rs58131640 GRCh37 Chromosome 14, 23871743: 23871743
16 MYH6 NM_002471.3(MYH6): c.1071C> T (p.Ile357=) single nucleotide variant Conflicting interpretations of pathogenicity rs58131640 GRCh38 Chromosome 14, 23402534: 23402534
17 MYH6 NM_002471.3(MYH6): c.1335C> T (p.Asn445=) single nucleotide variant Benign/Likely benign rs61731179 GRCh37 Chromosome 14, 23869993: 23869993
18 MYH6 NM_002471.3(MYH6): c.1335C> T (p.Asn445=) single nucleotide variant Benign/Likely benign rs61731179 GRCh38 Chromosome 14, 23400784: 23400784
19 MYH6 NM_002471.3(MYH6): c.166G> A (p.Gly56Arg) single nucleotide variant Benign/Likely benign rs28711516 GRCh37 Chromosome 14, 23876267: 23876267
20 MYH6 NM_002471.3(MYH6): c.166G> A (p.Gly56Arg) single nucleotide variant Benign/Likely benign rs28711516 GRCh38 Chromosome 14, 23407058: 23407058
21 MYH6 NM_002471.3(MYH6): c.1809C> T (p.Asn603=) single nucleotide variant Conflicting interpretations of pathogenicity rs186134696 GRCh37 Chromosome 14, 23868019: 23868019
22 MYH6 NM_002471.3(MYH6): c.1809C> T (p.Asn603=) single nucleotide variant Conflicting interpretations of pathogenicity rs186134696 GRCh38 Chromosome 14, 23398810: 23398810
23 MYH6 NM_002471.3(MYH6): c.2151C> T (p.Tyr717=) single nucleotide variant Benign/Likely benign rs76202964 GRCh37 Chromosome 14, 23866189: 23866189
24 MYH6 NM_002471.3(MYH6): c.2151C> T (p.Tyr717=) single nucleotide variant Benign/Likely benign rs76202964 GRCh38 Chromosome 14, 23396980: 23396980
25 MYH6 NM_002471.3(MYH6): c.2806G> T (p.Ala936Ser) single nucleotide variant Benign/Likely benign rs141704264 GRCh37 Chromosome 14, 23862997: 23862997
26 MYH6 NM_002471.3(MYH6): c.2806G> T (p.Ala936Ser) single nucleotide variant Benign/Likely benign rs141704264 GRCh38 Chromosome 14, 23393788: 23393788
27 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh37 Chromosome 14, 23862870: 23862870
28 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh38 Chromosome 14, 23393661: 23393661
29 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh37 Chromosome 14, 23874889: 23874889
30 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh38 Chromosome 14, 23405680: 23405680
31 MYH6 NM_002471.3(MYH6): c.2946G> A (p.Glu982=) single nucleotide variant Benign/Likely benign rs145274612 GRCh37 Chromosome 14, 23862710: 23862710
32 MYH6 NM_002471.3(MYH6): c.2946G> A (p.Glu982=) single nucleotide variant Benign/Likely benign rs145274612 GRCh38 Chromosome 14, 23393501: 23393501
33 MYH6 NM_002471.3(MYH6): c.3199A> G (p.Ser1067Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145508517 GRCh37 Chromosome 14, 23862173: 23862173
34 MYH6 NM_002471.3(MYH6): c.3199A> G (p.Ser1067Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145508517 GRCh38 Chromosome 14, 23392964: 23392964
35 MYH6 NM_002471.3(MYH6): c.3302T> C (p.Val1101Ala) single nucleotide variant Benign/Likely benign rs365990 GRCh37 Chromosome 14, 23861811: 23861811
36 MYH6 NM_002471.3(MYH6): c.3302T> C (p.Val1101Ala) single nucleotide variant Benign/Likely benign rs365990 GRCh38 Chromosome 14, 23392602: 23392602
37 MYH6 NM_002471.3(MYH6): c.330G> A (p.Ala110=) single nucleotide variant Conflicting interpretations of pathogenicity rs77679218 GRCh37 Chromosome 14, 23874851: 23874851
38 MYH6 NM_002471.3(MYH6): c.330G> A (p.Ala110=) single nucleotide variant Conflicting interpretations of pathogenicity rs77679218 GRCh38 Chromosome 14, 23405642: 23405642
39 MYH6 NM_002471.3(MYH6): c.3388G> A (p.Ala1130Thr) single nucleotide variant Benign/Likely benign rs28730771 GRCh37 Chromosome 14, 23859610: 23859610
40 MYH6 NM_002471.3(MYH6): c.3388G> A (p.Ala1130Thr) single nucleotide variant Benign/Likely benign rs28730771 GRCh38 Chromosome 14, 23390401: 23390401
41 MYH6 NM_002471.3(MYH6): c.3408G> A (p.Lys1136=) single nucleotide variant Benign/Likely benign rs28730770 GRCh37 Chromosome 14, 23859590: 23859590
42 MYH6 NM_002471.3(MYH6): c.3408G> A (p.Lys1136=) single nucleotide variant Benign/Likely benign rs28730770 GRCh38 Chromosome 14, 23390381: 23390381
43 MYH6 NM_002471.3(MYH6): c.3480C> T (p.Ser1160=) single nucleotide variant Benign/Likely benign rs373345984 GRCh37 Chromosome 14, 23859518: 23859518
44 MYH6 NM_002471.3(MYH6): c.3480C> T (p.Ser1160=) single nucleotide variant Benign/Likely benign rs373345984 GRCh38 Chromosome 14, 23390309: 23390309
45 MYH6 NM_002471.3(MYH6): c.3609C> G (p.Ala1203=) single nucleotide variant Benign/Likely benign rs149369904 GRCh37 Chromosome 14, 23859389: 23859389
46 MYH6 NM_002471.3(MYH6): c.3609C> G (p.Ala1203=) single nucleotide variant Benign/Likely benign rs149369904 GRCh38 Chromosome 14, 23390180: 23390180
47 MYH6 NM_002471.3(MYH6): c.3627C> T (p.Ile1209=) single nucleotide variant Benign/Likely benign rs147871745 GRCh37 Chromosome 14, 23859371: 23859371
48 MYH6 NM_002471.3(MYH6): c.3627C> T (p.Ile1209=) single nucleotide variant Benign/Likely benign rs147871745 GRCh38 Chromosome 14, 23390162: 23390162
49 MYH6 NM_002471.3(MYH6): c.393G> A (p.Leu131=) single nucleotide variant Benign/Likely benign rs17277970 GRCh37 Chromosome 14, 23874541: 23874541
50 MYH6 NM_002471.3(MYH6): c.393G> A (p.Leu131=) single nucleotide variant Benign/Likely benign rs17277970 GRCh38 Chromosome 14, 23405332: 23405332
Sources

Expression for Atrial Heart Septal Defect

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Search GEO for disease gene expression data for Atrial Heart Septal Defect.
Sources

Pathways for Atrial Heart Septal Defect

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

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.45 DMD GATA4 MYH6 NKX2-5 TBX5
2
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.13 ACVRL1 DMD GATA4 NKX2-5
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.73 GATA4 NKX2-5 TBX5
4
Striated Muscle Contraction 1 66
11.29 ACTC1 DMD MYH6
5
Heart Development 1
11.02 FOXC1 GATA4 NKX2-5 TBX20 TBX5
6
Cardiac Progenitor Differentiation 1
10.82 ACTC1 GATA4 MYH6 NKX2-5 TBX20 TBX5
7
Cardiomyocyte Differentiation through BMP Receptors 64
10.75 GATA4 NKX2-5
8
HOP Signaling 64
10.11 ACTC1 GATA4 NKX2-5
Sources

GO Terms for Atrial Heart Septal Defect

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.85 FOXC1 GATA4 NKX2-5 NKX2-6 TBX5
2 heart looping GO:0001947 9.72 GATA4 NKX2-5 TBX20
3 BMP signaling pathway GO:0030509 9.71 ACVRL1 GDF1 MYH6 NKX2-5
4 muscle filament sliding GO:0030049 9.69 ACTC1 DMD MYH6
5 aortic valve morphogenesis GO:0003180 9.65 GATA4 TBX20
6 actin filament-based movement GO:0030048 9.64 ACTC1 MYH6
7 pharyngeal system development GO:0060037 9.63 NKX2-5 NKX2-6
8 endocardial cushion morphogenesis GO:0003203 9.63 ACVRL1 TBX20
9 adult heart development GO:0007512 9.62 MYH6 NKX2-5
10 heart contraction GO:0060047 9.62 ACTC1 NKX2-5
11 cardiac muscle cell proliferation GO:0060038 9.61 FOXC1 NKX2-5
12 cardiac right ventricle morphogenesis GO:0003215 9.61 GATA4 TBX20
13 cardiac muscle cell differentiation GO:0055007 9.61 GATA4 NKX2-5 TBX5
14 cardiac septum development GO:0003279 9.6 CRELD1 TBX20
15 cardiac ventricle morphogenesis GO:0003208 9.59 GATA4 NKX2-5
16 ventricular cardiac muscle cell development GO:0055015 9.58 NKX2-5 NKX2-6
17 pericardium development GO:0060039 9.58 NKX2-6 TBX5
18 cardiac muscle contraction GO:0060048 9.56 ACTC1 DMD MYH6 NKX2-5
19 cardiac muscle tissue morphogenesis GO:0055008 9.54 ACTC1 NKX2-5 TBX20
20 endocardial cushion development GO:0003197 9.5 CRELD1 GATA4 TBX5
21 atrial cardiac muscle cell development GO:0055014 9.49 NKX2-5 NKX2-6
22 bundle of His development GO:0003166 9.48 NKX2-5 TBX5
23 positive regulation of cardioblast differentiation GO:0051891 9.33 GATA4 NKX2-5 TBX5
24 embryonic heart tube development GO:0035050 9.26 FOXC1 NKX2-5 NKX2-6 TBX20
25 atrial septum morphogenesis GO:0060413 8.92 GATA4 NKX2-5 TBX20 TBX5
26 regulation of transcription, DNA-templated GO:0006355 10.14 ACVRL1 DMD FOXC1 GATA4 NKX2-5 NKX2-6
27 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 ACVRL1 FOXC1 GATA4 NKX2-5 NKX2-6 TBX20
28 multicellular organism development GO:0007275 10.1 F2 FOXC1 NKX2-5 NKX2-6 TBX20 TBX5
29 transcription by RNA polymerase II GO:0006366 10.04 FOXC1 GATA4 NKX2-5 NKX2-6 TBX20
30 positive regulation of transcription, DNA-templated GO:0045893 10 ACVRL1 FOXC1 GATA4 NKX2-5 TBX20 TBX5

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.65 FOXC1 GATA4 NKX2-5 NKX2-6 TBX5
2 transcription factor binding GO:0008134 9.62 FOXC1 GATA4 NKX2-5 TBX5
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.46 FOXC1 GATA4 NKX2-6 TBX20
4 DNA-binding transcription factor activity GO:0003700 9.43 FOXC1 GATA4 NKX2-5 NKX2-6 TBX20 TBX5
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.02 FOXC1 GATA4 NKX2-5 NKX2-6 TBX5
Sources

Sources for Atrial Heart Septal Defect

About this section
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
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50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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