MCID: ATR010
MIFTS: 54

Atrial Heart Septal Defect

Categories: Cardiovascular diseases

Aliases & Classifications for Atrial Heart Septal Defect

MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 12 15
Atrial Septal Defect 12 76 37 29 6
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:



External Ids:

Disease Ontology 12 DOID:1882
ICD10 33 Q21.1
MeSH 44 D006344
NCIt 50 C84473
KEGG 37 H00546
UMLS 73 C0018817

Summaries for Atrial Heart Septal Defect

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 atrial septal defect 4. 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 BMP Pathway. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include in the septum, heart and brain, 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...

Related Diseases for Atrial Heart Septal Defect

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 all 49)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 1 33.9 ASD1 TBX5
2 atrial septal defect 4 33.0 ACTC1 GATA4 MYH6 NKX2-5 TBX20 TBX5
3 atrioventricular block 30.9 GATA4 NKX2-5 TBX5
4 patent ductus arteriosus 1 30.5 CRELD1 GATA4 GDF1 NKX2-6 TLL1
5 patent foramen ovale 30.4 F2 GATA4 MYH6 NKX2-5 TBX20 TBX5
6 dilated cardiomyopathy 30.0 ACTC1 DMD GATA4 MYH6 NKX2-5 TBX20
7 atrial heart septal defect 7 12.4
8 atrial septal defect 2 11.9
9 atrial septal defect 5 11.9
10 atrial septal defect 6 11.9
11 atrial septal defect 3 11.9
12 atrial septal defect 8 11.8
13 atrial septal defect 9 11.8
14 atrial septal defect 7 with or without atrioventricular conduction defects 11.1
15 complete atrioventricular canal-tetralogy of fallot syndrome 11.0 CRELD1 GATA4
16 complete atrioventricular canal-left heart obstruction syndrome 11.0 CRELD1 GATA4
17 partial atrioventricular canal 11.0 CRELD1 GATA4
18 interatrial communication 11.0 DMD NKX2-5 RPL5
19 complete atrioventricular canal-ventricle hypoplasia syndrome 10.9 CRELD1 GATA4
20 pulmonary valve stenosis 10.9 GATA4 NKX2-6 TBX5
21 heart, malformation of 10.8 MYH6 TBX5
22 total anomalous pulmonary venous return 1 10.8 CRELD1 GDF1 NKX2-6
23 holt-oram syndrome 10.8 MYH6 NKX2-5 TBX5
24 pulmonary hypertension, primary, 1 10.8 ACVRL1 RPL5
25 conotruncal heart malformations 10.7 GDF1 NKX2-5 NKX2-6
26 pulmonary valve disease 10.7 CRELD1 GATA4 NKX2-6 TBX5
27 tricuspid atresia 10.7 CRELD1 GDF1 NKX2-5 NKX2-6
28 hypoplastic left heart syndrome 10.7 MYH6 NKX2-5 NKX2-6 TBX20
29 familial isolated dilated cardiomyopathy 10.7 ACTC1 DMD MYH6
30 transposition of the great arteries 10.7 GDF1 NKX2-5
31 intrinsic cardiomyopathy 10.6 ACTC1 DMD MYH6
32 left ventricular noncompaction 10.6 ACTC1 DMD MYH6 NKX2-5
33 ebstein anomaly 10.6 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
34 dextro-looped transposition of the great arteries 10.6 GDF1 NKX2-6
35 ventricular septal defect 10.5 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
36 tricuspid valve disease 10.5 ACVRL1 CRELD1 GDF1 NKX2-5 NKX2-6
37 atrioventricular septal defect 10.4 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
38 double outlet right ventricle 10.4 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX20
39 familial atrial fibrillation 10.4 GATA4 NKX2-5 NKX2-6
40 tetralogy of fallot 10.2 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX20
41 cardiac tamponade 10.1 ACVRL1 F2
42 lutembacher's syndrome 10.0
43 anemia, congenital dyserythropoietic, type iii 10.0
44 congenital dyserythropoietic anemia 10.0
45 pulmonary hypertension 9.9
46 endocarditis 9.9
47 pulmonic stenosis 9.9
48 heart septal defect 9.8 ACVRL1 CLNK CRELD1 GATA4 GDF1 NKX2-5
49 heart disease 9.6 ACTC1 CRELD1 F2 GATA4 GDF1 MYH6

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



Diseases related to Atrial Heart Septal Defect

Symptoms & Phenotypes for Atrial Heart Septal Defect

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 CRELD1 GATA4 DMD ACTC1 F2 ACVRL1
2 growth/size/body region MP:0005378 10.18 ACVRL1 FOXC1 DMD GATA4 ACTC1 F2
3 homeostasis/metabolism MP:0005376 10.18 ACVRL1 FOXC1 DMD GATA4 ECI1 ACTC1
4 embryo MP:0005380 10.13 ACVRL1 FOXC1 CRELD1 GATA4 F2 GDF1
5 mortality/aging MP:0010768 10.1 ACVRL1 FOXC1 CRELD1 DMD GATA4 ACTC1
6 digestive/alimentary MP:0005381 10.06 ACVRL1 FOXC1 DMD GATA4 F2 GDF1
7 liver/biliary system MP:0005370 9.87 ACVRL1 FOXC1 DMD GDF1 MYH6 TLL1
8 muscle MP:0005369 9.85 FOXC1 GATA4 DMD ACTC1 ACVRL1 TBX20
9 normal MP:0002873 9.73 FOXC1 GATA4 DMD ACTC1 F2 ACVRL1
10 respiratory system MP:0005388 9.28 ACVRL1 FOXC1 DMD GATA4 F2 GDF1

Drugs & Therapeutics for Atrial Heart Septal Defect

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
3
Ticlopidine Approved Phase 4 55142-85-3 5472
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7
Racepinephrine Approved Phase 4 329-65-7 838
8 Analgesics Phase 4,Phase 3
9 Analgesics, Non-Narcotic Phase 4,Phase 3
10 Anti-Inflammatory Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Antipyretics Phase 4
13 Antirheumatic Agents Phase 4
14 Cyclooxygenase Inhibitors Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Fibrinolytic Agents Phase 4,Not Applicable
17 Neurotransmitter Agents Phase 4,Phase 3
18 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
19 Platelet Aggregation Inhibitors Phase 4
20 Purinergic P2 Receptor Antagonists Phase 4
21 Purinergic P2Y Receptor Antagonists Phase 4
22 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
23 Anesthetics Phase 4,Not Applicable
24 Anesthetics, Local Phase 4,Not Applicable
25 Carticaine Phase 4
26 Epinephryl borate Phase 4
27 Pharmaceutical Solutions Phase 4
28
Dexmedetomidine Approved, Vet_approved Phase 3 113775-47-6 68602 5311068
29
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
30 Adrenergic Agents Phase 3
31 Adrenergic Agonists Phase 3
32 Adrenergic alpha-2 Receptor Agonists Phase 3
33 Adrenergic alpha-Agonists Phase 3
34 Hypnotics and Sedatives Phase 3
35 Antihypertensive Agents Phase 3
36 Endothelin Receptor Antagonists Phase 3
37
Dalteparin Approved Not Applicable 9005-49-6
38
Enoxaparin Approved Not Applicable 9005-49-6 772
39
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
40
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
41
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
42 tannic acid Approved, Nutraceutical Not Applicable
43
Substance P Investigational 33507-63-0 44359816
44 Anticoagulants Not Applicable
45 calcium heparin Not Applicable
46 Calcium, Dietary Not Applicable
47 Heparin, Low-Molecular-Weight Not Applicable
48 Phosphodiesterase 5 Inhibitors
49 Phosphodiesterase Inhibitors
50 Sildenafil Citrate 171599-83-0

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Unknown status NCT00799045 Phase 4 Clopidogrel
2 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Terminated NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
3 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
4 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
5 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
6 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
7 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
8 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
9 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
10 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Phase 1, Phase 2
11 Utilization of Confocal Microscopy During Cardiac Surgery Recruiting NCT03189134 Phase 1 Fluorescite
12 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
13 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Unknown status NCT02453451 Not Applicable
14 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Not Applicable Low molecular weight heparin
15 Occluder Size Determination in Transcatheter ASD II Closure Based on 3D TEE Assessment Unknown status NCT02601768
16 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Unknown status NCT00650936 Not Applicable
17 Hyperion™ International Registry Trial Unknown status NCT02220270
18 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
19 Magnetic Resonance Imaging of Atrial Septal Defects Completed NCT00498446
20 Percutaneous Closure of Atrial Septal Defects in Children: Integration of 3D Echocardiography and Fluoroscopy Imaging. Completed NCT02529111 Not Applicable
21 Safety and Effectiveness Study of the Solysafe Septal Occluder in Patients With Atrial Septum Defect and Patent Foramen Ovale Completed NCT00207376 Not Applicable
22 Safety and Effectiveness Study of the Solysafe Septal Occluder Completed NCT00353509 Not Applicable
23 Fluid Balance During Closure of Atrial Septal Defect Completed NCT01757743
24 Long-term Safety Study of the GORE® HELEX® Septal Occluder Completed NCT00581308 Not Applicable
25 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
26 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
27 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
28 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
29 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
30 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
31 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120 Not Applicable
32 Pivotal Study of a Percutaneous Mitral Valve Repair System Completed NCT00209274 Not Applicable
33 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
34 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Recruiting NCT03565471
35 Safety and Efficacy Study of Transcatheter Closure of Ostium Secundum ASDs Recruiting NCT02985684 Not Applicable
36 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758 Not Applicable
37 A Prospective Investigation of Pleth Variability Index (PVI) as a Dynamic Parameter of Fluid Responsiveness in Children Recruiting NCT02276599
38 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268 Not Applicable
39 The Effect on EPCs by Successful Cardiac Occlusion Device Implantation Recruiting NCT02957201 Not Applicable
40 Lifetech CeraFlex™ Post-Market Surveillance Study Recruiting NCT02621528 Not Applicable
41 Cardiac Murmurs in Children: Predictive Value of Cardiac Markers Recruiting NCT02746029
42 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225 Not Applicable
43 Cardiovascular Outcomes Assessment of the MitraClip Percutaneous Therapy for Heart Failure Patients With Functional Mitral Regurgitation (The COAPT Trial) Recruiting NCT01626079 Not Applicable
44 FIH Study With CBSO Active, not recruiting NCT01960491 Not Applicable
45 Safety and Efficacy of the GORE® Septal Occluder to Treat Ostium Secundum Atrial Septal Defects Active, not recruiting NCT01711983 Not Applicable
46 Real World Expanded Multicenter Study of the MitraClip® System (REALISM) Active, not recruiting NCT01931956 Not Applicable
47 AVJ-514 Japan Trial Active, not recruiting NCT02520310 Not Applicable
48 International Registry for ASD Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Enrolling by invitation NCT02766569
49 Stitch Closure of PFO and Septal Repair Enrolling by invitation NCT03373929 Not Applicable
50 Non-Invasive Shunt Quantification in Interatrial Communication Not yet recruiting NCT03437148 Not Applicable

Search NIH Clinical Center for Atrial Heart Septal Defect

Cochrane evidence based reviews: heart septal defects, atrial

Genetic Tests for Atrial Heart Septal Defect

Genetic tests related to Atrial Heart Septal Defect:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 29

Anatomical Context for Atrial Heart Septal Defect

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

19
In The Septum

MalaCards organs/tissues related to Atrial Heart Septal Defect:

41
Heart, Brain, Lung, Liver, Endothelial

Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 562)
# Title Authors Year
1
Intracardiac echocardiography for percutaneous patent foramen ovale and atrial septal defect occlusion. ( 29374291 )
2018
2
A new method of tracheoesophageal fistula treatment: Using an atrial septal defect occluder device for closure-The first Turkish experience. ( 29730753 )
2018
3
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
4
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
5
Infective Endocarditis Associated with Atrial Septal Defect in an Intravenous Drug Abuser: A Case Report. ( 29922523 )
2018
6
Iatrogenic atrial septal defect with right-to-left shunt following atrial fibrillation ablation in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 29755946 )
2018
7
Electrocardiographic RR and QT Interval Variability in Patients with Atrial Septal Defect and Healthy Children. ( 28058479 )
2017
8
Assessment of right atrial function with speckle tracking echocardiography after percutaneous closure of an atrial septal defect. ( 29191713 )
2017
9
A Very Late Life-Threatening Complication After Percutaneous Closure of an Atrial Septal Defect. ( 27955820 )
2017
10
Multicenter midterm follow-up results using the gore septal occluder for atrial septal defect closure in pediatric patients. ( 27900839 )
2017
11
Transareolar Video-Assisted Approach to the Atrial Septal Defect and Tricuspid Valve. ( 28538272 )
2017
12
Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect. ( 28571224 )
2017
13
Secundum atrial septal defect with Eisenmenger syndrome: A scarcely reported disease in Nigeria. ( 29269987 )
2017
14
Clinical Detection of Hemodynamically Significant Isolated Secundum Atrial Septal Defect. ( 28918881 )
2017
15
Long-Term Risk of Atrial Fibrillation and Stroke in Patients With Atrial Septal Defect Diagnosed in Childhood. ( 27939228 )
2017
16
Think beyond right bundle branch block in atrial septal defect. ( 28994692 )
2017
17
Atrial septal defect morphology and stenting in hypoplastic left heart syndrome after hybrid palliation. ( 28889828 )
2017
18
Persistent left superior vena cava in atrial septal defect sinus venosus type: diagnosis with saline contrast echocardiography-a case series. ( 28469854 )
2017
19
Acute Unilateral Renal Infarction in the Setting of an Inherited Thrombophilia and Atrial Septal Defect. ( 28928995 )
2017
20
Uncommon Cardiac Manifestations of Left-sided <i>Pseudomonas</i> Endocarditis in an Intravenous Drug Abuser with an Undiagnosed Atrial Septal Defect. ( 28465984 )
2017
21
Isolated sternal cleft in a patient with atrial septal defect: A rare sole association. ( 28492212 )
2017
22
Cor triatriatum dexter associated with atrial septal defect: Management in a complex clinical case. ( 29178296 )
2017
23
Dynamic characteristic mechanism of atrial septal defect using real-time three-dimensional echocardiography and evaluation of right ventricular functions. ( 28224424 )
2017
24
Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block. ( 28259982 )
2017
25
Peratrial Device Closure of Atrial Septal Defect Under Transesophageal Echocardiographic Guidance without Fluoroscopy Compared to Conventional On-Pump Surgical Closure. ( 28423128 )
2017
26
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III. ( 28937047 )
2017
27
Imaging Assessment of the Interatrial Septum for Transcatheter Atrial Septal Defect and Patent Foramen Ovale Closure. ( 28886842 )
2017
28
[Quadricuspid Aortic Valve with Atrial Septal Defect;Report of a Case]. ( 28293006 )
2017
29
Totally Endoscopic Robotic Correction of Cor Triatriatum Sinister Coexisting With Atrial Septal Defect. ( 27922989 )
2016
30
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect. ( 26376067 )
2016
31
Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient. ( 27170921 )
2016
32
Secundum atrial septal defects and methylenetetrahydrofolate reductase C677T polymorphism: A special category of ASDs? ( 27537741 )
2016
33
Right-side pulmonary agenesis with atrial septal defect in adult. ( 27081489 )
2016
34
Robotic atrial septal defect closure and tricuspid annuloplasty in a case of situs inversus totalis with dextrocardia. ( 27344445 )
2016
35
Atrial Septal Defect Closure for Right-to-Left Shunting Following a MitraClip Repair. ( 27591693 )
2016
36
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. ( 27727653 )
2016
37
Normalisation of hypoxaemia following successful percutaneous closure of a bidirectional shunting secundum atrial septal defect without pulmonary hypertension in a patient with severe non-ischaemic cardiomyopathy and refractory ventricular tachycardia. ( 27553997 )
2016
38
Radiofrequency Catheter Ablation of Orthodromic Atrioventricular Reentrant Tachycardia in a Child with Congenitally Corrected Transposition of the Great Arteries and Atrial Septal Defect. ( 27057934 )
2016
39
Percutaneous closure of isolated ostium secundum-type atrial septal defect in a patient with Mayer-Rokitansky-KA1ster-Hauser syndrome. ( 27865679 )
2016
40
Successful thrombolytic treatment of a mobile thrombus on atrial septal defect occluder device. ( 27075806 )
2016
41
Three-dimensional printing-guided percutaneous transcatheter closure of secundum atrial septal defect with rim deficiency: First-in-human series. ( 27747857 )
2016
42
Recent development of transcatheter closure of atrial septal defect and patent foramen ovale with occluders. ( 28024095 )
2016
43
Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent. ( 26884451 )
2016
44
Congenital pulmonary airway malformation with atrial septal defect and pulmonary hypertension for lobectomy-anesthetic considerations. ( 27052089 )
2016
45
Case 1/2016 - 56-Year-Old Male with Atrial Septal Defect, Pulmonary Arterial Hypertension, Hospitalized Due to Eisenmenger Syndrome. ( 27027369 )
2016
46
The Aspect of NK2 Transcription Factor Related Locus-5 (NKX2.5) Gene Mutations in Bangladeshi Atrial Septal Defect (ASD) patients and 2D Relationship with their Age. ( 26931254 )
2016
47
A rare case of peripartum cardiomyopathy with atrial septal defect. ( 27728087 )
2016
48
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. ( 26679770 )
2016
49
Infective Endocarditis After Device Closure of Atrial Septal Defects: Case Report and Review of the Literature. ( 27641431 )
2016
50
Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. ( 26297999 )
2016

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

6
(show top 50) (show all 333)
# 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 NKX2-5 NM_004387.3(NKX2-5): c.400_402delCGGinsAT (p.Arg134Metfs) indel Likely pathogenic rs397516908 GRCh37 Chromosome 5, 172660145: 172660147
4 NKX2-5 NM_004387.3(NKX2-5): c.400_402delCGGinsAT (p.Arg134Metfs) indel Likely pathogenic rs397516908 GRCh38 Chromosome 5, 173233142: 173233144
5 MYH6 NM_002471.3(MYH6): c.4960-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs557113705 GRCh37 Chromosome 14, 23855349: 23855349
6 MYH6 NM_002471.3(MYH6): c.4960-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs557113705 GRCh38 Chromosome 14, 23386140: 23386140
7 MYH6 NM_002471.3(MYH6): c.4293G> A (p.Met1431Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201016285 GRCh37 Chromosome 14, 23857430: 23857430
8 MYH6 NM_002471.3(MYH6): c.4293G> A (p.Met1431Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201016285 GRCh38 Chromosome 14, 23388221: 23388221
9 MYH6 NM_002471.3(MYH6): c.981C> T (p.Ser327=) single nucleotide variant Conflicting interpretations of pathogenicity rs148407931 GRCh37 Chromosome 14, 23871927: 23871927
10 MYH6 NM_002471.3(MYH6): c.981C> T (p.Ser327=) single nucleotide variant Conflicting interpretations of pathogenicity rs148407931 GRCh38 Chromosome 14, 23402718: 23402718
11 MYH6 NM_002471.3(MYH6): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance rs727503239 GRCh37 Chromosome 14, 23876272: 23876272
12 MYH6 NM_002471.3(MYH6): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance rs727503239 GRCh38 Chromosome 14, 23407063: 23407063
13 MYH6 NM_002471.3(MYH6): c.-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs183611755 GRCh37 Chromosome 14, 23876437: 23876437
14 MYH6 NM_002471.3(MYH6): c.-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs183611755 GRCh38 Chromosome 14, 23407228: 23407228
15 MYH6 NM_002471.3(MYH6): c.3979-8dupC duplication Conflicting interpretations of pathogenicity rs730880363 GRCh37 Chromosome 14, 23858272: 23858272
16 MYH6 NM_002471.3(MYH6): c.3979-8dupC duplication Conflicting interpretations of pathogenicity rs730880363 GRCh38 Chromosome 14, 23389063: 23389063
17 MYH6 NM_002471.3(MYH6): c.2430-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs190342289 GRCh37 Chromosome 14, 23863546: 23863546
18 MYH6 NM_002471.3(MYH6): c.2430-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs190342289 GRCh38 Chromosome 14, 23394337: 23394337
19 MYH6 NM_002471.3(MYH6): c.2097C> T (p.Gly699=) single nucleotide variant Conflicting interpretations of pathogenicity rs149734381 GRCh37 Chromosome 14, 23866243: 23866243
20 MYH6 NM_002471.3(MYH6): c.2097C> T (p.Gly699=) single nucleotide variant Conflicting interpretations of pathogenicity rs149734381 GRCh38 Chromosome 14, 23397034: 23397034
21 MYH6 NM_002471.3(MYH6): c.1410C> T (p.Asp470=) single nucleotide variant Conflicting interpretations of pathogenicity rs139886074 GRCh37 Chromosome 14, 23869918: 23869918
22 MYH6 NM_002471.3(MYH6): c.1410C> T (p.Asp470=) single nucleotide variant Conflicting interpretations of pathogenicity rs139886074 GRCh38 Chromosome 14, 23400709: 23400709
23 MYH6 NM_002471.3(MYH6): c.1122G> A (p.Ala374=) single nucleotide variant Conflicting interpretations of pathogenicity rs148091079 GRCh37 Chromosome 14, 23871692: 23871692
24 MYH6 NM_002471.3(MYH6): c.1122G> A (p.Ala374=) single nucleotide variant Conflicting interpretations of pathogenicity rs148091079 GRCh38 Chromosome 14, 23402483: 23402483
25 MYH6 NM_002471.3(MYH6): c.831G> T (p.Gln277His) single nucleotide variant Conflicting interpretations of pathogenicity rs140660481 GRCh37 Chromosome 14, 23872624: 23872624
26 MYH6 NM_002471.3(MYH6): c.831G> T (p.Gln277His) single nucleotide variant Conflicting interpretations of pathogenicity rs140660481 GRCh38 Chromosome 14, 23403415: 23403415
27 MYH6 NM_002471.3(MYH6): c.86G> A (p.Arg29Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150574114 GRCh37 Chromosome 14, 23876347: 23876347
28 MYH6 NM_002471.3(MYH6): c.86G> A (p.Arg29Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150574114 GRCh38 Chromosome 14, 23407138: 23407138
29 MYH6 NM_002471.3(MYH6): c.36G> A (p.Ala12=) single nucleotide variant Conflicting interpretations of pathogenicity rs141014719 GRCh37 Chromosome 14, 23876397: 23876397
30 MYH6 NM_002471.3(MYH6): c.36G> A (p.Ala12=) single nucleotide variant Conflicting interpretations of pathogenicity rs141014719 GRCh38 Chromosome 14, 23407188: 23407188
31 SOS1 NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys) single nucleotide variant Uncertain significance rs730880218 GRCh37 Chromosome 2, 39250217: 39250217
32 SOS1 NM_005633.3(SOS1): c.1352C> A (p.Thr451Lys) single nucleotide variant Uncertain significance rs730880218 GRCh38 Chromosome 2, 39023076: 39023076
33 MYH6 NM_002471.3(MYH6): c.4193G> A (p.Arg1398Gln) single nucleotide variant Uncertain significance rs150815925 GRCh38 Chromosome 14, 23388321: 23388321
34 MYH6 NM_002471.3(MYH6): c.4193G> A (p.Arg1398Gln) single nucleotide variant Uncertain significance rs150815925 GRCh37 Chromosome 14, 23857530: 23857530
35 MYH6 NM_002471.3(MYH6): c.3979-8C> T single nucleotide variant Benign/Likely benign rs555976716 GRCh37 Chromosome 14, 23858272: 23858272
36 MYH6 NM_002471.3(MYH6): c.3979-8C> T single nucleotide variant Benign/Likely benign rs555976716 GRCh38 Chromosome 14, 23389063: 23389063
37 NKX2-5 NM_004387.3(NKX2-5): c.335-3C> G single nucleotide variant Likely pathogenic rs876657934 GRCh38 Chromosome 5, 173233212: 173233212
38 NKX2-5 NM_004387.3(NKX2-5): c.335-3C> G single nucleotide variant Likely pathogenic rs876657934 GRCh37 Chromosome 5, 172660215: 172660215
39 MYH6 NM_002471.3(MYH6): c.5112G> A (p.Ala1704=) single nucleotide variant Conflicting interpretations of pathogenicity rs150450178 GRCh37 Chromosome 14, 23855188: 23855188
40 MYH6 NM_002471.3(MYH6): c.5112G> A (p.Ala1704=) single nucleotide variant Conflicting interpretations of pathogenicity rs150450178 GRCh38 Chromosome 14, 23385979: 23385979
41 MYH6 NM_002471.3(MYH6): c.3428G> A (p.Arg1143Gln) single nucleotide variant Uncertain significance rs543585784 GRCh37 Chromosome 14, 23859570: 23859570
42 MYH6 NM_002471.3(MYH6): c.3428G> A (p.Arg1143Gln) single nucleotide variant Uncertain significance rs543585784 GRCh38 Chromosome 14, 23390361: 23390361
43 MYH6 NM_002471.3(MYH6): c.1131C> T (p.Asp377=) single nucleotide variant Conflicting interpretations of pathogenicity rs61742472 GRCh37 Chromosome 14, 23871683: 23871683
44 MYH6 NM_002471.3(MYH6): c.1131C> T (p.Asp377=) single nucleotide variant Conflicting interpretations of pathogenicity rs61742472 GRCh38 Chromosome 14, 23402474: 23402474
45 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh38 Chromosome 14, 23400875: 23400875
46 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh37 Chromosome 14, 23870084: 23870084
47 MYH6 NM_002471.3(MYH6): c.5598A> G (p.Leu1866=) single nucleotide variant Benign/Likely benign rs17091278 GRCh37 Chromosome 14, 23852497: 23852497
48 MYH6 NM_002471.3(MYH6): c.5598A> G (p.Leu1866=) single nucleotide variant Benign/Likely benign rs17091278 GRCh38 Chromosome 14, 23383288: 23383288
49 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
50 46;XY;t(9;11)(q34;p11.2)dn Translocation Pathogenic

Expression for Atrial Heart Septal Defect

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

Pathways for Atrial Heart Septal Defect

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 DMD GATA4 MYH6 NKX2-5 TBX5
2
Show member pathways
12.13 ACVRL1 DMD GATA4 NKX2-5
3 11.73 GATA4 NKX2-5 TBX5
4 11.29 ACTC1 DMD MYH6
5 11.02 FOXC1 GATA4 NKX2-5 TBX20 TBX5
6 10.82 ACTC1 GATA4 MYH6 NKX2-5 TBX20 TBX5
7 10.75 GATA4 NKX2-5
8 10.11 ACTC1 GATA4 NKX2-5

GO Terms for Atrial Heart Septal Defect

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 FOXC1 GATA4 NKX2-5 NKX2-6 TBX5
2 heart looping GO:0001947 9.71 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 actin filament-based movement GO:0030048 9.63 ACTC1 MYH6
6 pharyngeal system development GO:0060037 9.63 NKX2-5 NKX2-6
7 cardiac muscle cell differentiation GO:0055007 9.63 GATA4 NKX2-5 TBX5
8 endocardial cushion morphogenesis GO:0003203 9.62 ACVRL1 TBX20
9 adult heart development GO:0007512 9.61 MYH6 NKX2-5
10 cardiac muscle cell proliferation GO:0060038 9.61 FOXC1 NKX2-5
11 cardiac septum development GO:0003279 9.6 CRELD1 TBX20
12 cardiac right ventricle morphogenesis GO:0003215 9.59 GATA4 TBX20
13 heart contraction GO:0060047 9.58 ACTC1 NKX2-5
14 ventricular cardiac muscle cell development GO:0055015 9.58 NKX2-5 NKX2-6
15 cardiac ventricle morphogenesis GO:0003208 9.56 GATA4 NKX2-5
16 cardiac muscle contraction GO:0060048 9.56 ACTC1 DMD MYH6 NKX2-5
17 pericardium development GO:0060039 9.55 NKX2-6 TBX5
18 cardiac muscle tissue morphogenesis GO:0055008 9.54 ACTC1 NKX2-5 TBX20
19 endocardial cushion development GO:0003197 9.5 CRELD1 GATA4 TBX5
20 atrial cardiac muscle cell development GO:0055014 9.49 NKX2-5 NKX2-6
21 bundle of His development GO:0003166 9.48 NKX2-5 TBX5
22 positive regulation of cardioblast differentiation GO:0051891 9.33 GATA4 NKX2-5 TBX5
23 embryonic heart tube development GO:0035050 9.26 FOXC1 NKX2-5 NKX2-6 TBX20
24 atrial septum morphogenesis GO:0060413 8.92 GATA4 NKX2-5 TBX20 TBX5
25 regulation of transcription, DNA-templated GO:0006355 10.28 ACVRL1 DMD FOXC1 GATA4 NKX2-5 NKX2-6
26 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 ACVRL1 FOXC1 GATA4 NKX2-5 TBX20 TBX5
27 multicellular organism development GO:0007275 10.11 F2 FOXC1 NKX2-5 NKX2-6 TBX20 TBX5
28 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 transcription factor binding GO:0008134 9.26 FOXC1 GATA4 NKX2-5 TBX5
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.92 FOXC1 GATA4 NKX2-5 TBX5

Sources for Atrial Heart Septal Defect

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
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49 NCI
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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
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