MCID: ATR010
MIFTS: 58

Atrial Heart Septal Defect

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Heart Septal Defect

MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 12 15 17
Atrial Septal Defect 12 77 38 30 6 15
Congenital Atrial Septal Defect 12
Interauricular Septal Defect 12
Heart Septal Defects, Atrial 45
Interatrial Septal Defect 12
Auricular Septal Defect 12
Atrial Septal Defects 56
Septal Defect, Atrial 41
Atrioseptal Defect 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1882
KEGG 38 H00546
MeSH 45 D006344
NCIt 51 C84473
SNOMED-CT 69 69524004 70142008
ICD10 34 Q21.1
UMLS 74 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 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. The drugs Clopidogrel and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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 top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 1 33.6 ASD1 TBX5
2 patent foramen ovale 33.5 CLNK ECI1 F2 GATA4 GATA6 MYH6
3 atrial septal defect 2 33.5 GATA4 SHROOM1
4 interatrial communication 33.5 DMD NKX2-5 RPL5
5 holt-oram syndrome 33.2 MYH6 NKX2-5 TBX5
6 hypoplastic left heart syndrome 32.8 MYH6 NKX2-5 TBX20
7 atrioventricular septal defect 32.8 GATA4 GATA6 NKX2-5 TBX5
8 ventricular septal defect 31.5 GATA4 GATA6 NKX2-5 TBX5
9 patent ductus arteriosus 1 31.5 GATA4 GATA6 NKX2-5 TLL1
10 tetralogy of fallot 31.2 GATA4 GATA6 NKX2-5 TBX20 TBX5
11 atrioventricular block 31.0 GATA4 NKX2-5 TBX5
12 heart disease 30.9 CFC1 F2 GATA4 GATA6 MYH6 NKX2-5
13 dilated cardiomyopathy 30.4 DMD GATA4 MYH6 NKX2-5 TBX20 TBX5
14 double outlet right ventricle 30.2 CFC1 GATA4 GATA6 NKX2-5 TBX20
15 left ventricular noncompaction 30.0 DMD MYH6 NKX2-5
16 atrial septal defect 7 with or without atrioventricular conduction defects 12.9
17 atrial septal defect sinus venosus 12.7
18 atrial septal defect coronary sinus 12.7
19 atrial heart septal defect 7 12.6
20 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.4
21 atrial septal defect ostium primum 12.4
22 tarp syndrome 12.3
23 brachydactyly, type e, with atrial septal defect, type ii 12.3
24 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.3
25 atrial septal defect, secundum, with various cardiac and noncardiac defects 12.3
26 lymphatic malformation 7 12.1
27 atrial septal defect 4 12.1
28 atrial septal defect 5 12.1
29 atrial septal defect 6 12.1
30 atrial septal defect 3 12.1
31 neutropenia, severe congenital, 4, autosomal recessive 12.0
32 atrial septal defect 8 12.0
33 atrial septal defect 9 12.0
34 lymphedema, cardiac septal defects, and characteristic facies 11.8
35 irons bhan syndrome 11.8
36 lutembacher's syndrome 11.8
37 tricuspid atresia 11.7
38 hypoplastic right heart syndrome 11.7
39 eisenmenger syndrome 11.6
40 ventricular septal defect 3 11.5
41 shashi-pena syndrome 11.4
42 cardiofaciocutaneous syndrome 1 11.3
43 atrioventricular septal defect 4 11.3
44 atrioventricular septal defect 5 11.3
45 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 11.3
46 hypertelorism, teebi type 11.2
47 pagod syndrome 11.2
48 mcdonough syndrome 11.2
49 heterotaxy, visceral, 5, autosomal 11.2
50 white forelock with malformations 11.2

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

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

27 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.81 FOXC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.81 GATA6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.81 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.81 GATA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 TBX5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.81 F2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.81 FOXC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.81 F2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.81 FOXC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.81 F2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.81 F2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.81 FOXC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 F2 FOXC1 GATA6 TBX5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 FOXC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.81 F2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.81 GATA6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 FOXC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.81 TBX5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 TBX5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 GATA6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.81 GATA6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.81 F2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.81 GATA6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.81 GATA6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.81 TBX5
26 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.81 TBX5
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.81 GATA6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 GATA6

MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 DMD ECI1 F2 FOXC1 GATA4 GATA6
2 cardiovascular system MP:0005385 10.07 DMD F2 FOXC1 GATA4 GATA6 MYH6
3 muscle MP:0005369 9.81 DMD FOXC1 GATA4 GATA6 MYH6 NKX2-5
4 limbs/digits/tail MP:0005371 9.73 DMD FOXC1 GATA4 GATA6 TBX5 TLL1
5 normal MP:0002873 9.61 DMD F2 FOXC1 GATA4 GATA6 NKX2-5
6 respiratory system MP:0005388 9.17 DMD F2 FOXC1 GATA4 GATA6 MYH6

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 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7 Fibrinolytic Agents Phase 4,Not Applicable
8 Analgesics Phase 4,Phase 3
9 Platelet Aggregation Inhibitors Phase 4
10 Antipyretics Phase 4
11 Purinergic P2Y Receptor Antagonists Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Neurotransmitter Agents Phase 4,Phase 3
14 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
15 Cyclooxygenase Inhibitors Phase 4
16 Antirheumatic Agents Phase 4
17 Purinergic P2 Receptor Antagonists Phase 4
18 Anti-Inflammatory Agents, Non-Steroidal Phase 4
19 Analgesics, Non-Narcotic Phase 4,Phase 3
20 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
21 Pharmaceutical Solutions Phase 4
22 Epinephryl borate Phase 4
23 Anesthetics Phase 4,Not Applicable
24 Anesthetics, Local Phase 4,Not Applicable
25 Carticaine Phase 4
26
Dexmedetomidine Approved, Vet_approved Phase 3 113775-47-6 5311068 68602
27
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
28 Adrenergic alpha-Agonists Phase 3
29 Adrenergic Agents Phase 3
30 Adrenergic Agonists Phase 3
31 Hypnotics and Sedatives Phase 3
32 Adrenergic alpha-2 Receptor Agonists Phase 3
33 Antihypertensive Agents Phase 3
34 Endothelin Receptor Antagonists Phase 3
35
Heparin Approved, Investigational Not Applicable 9005-49-6 46507594 772
36
Dalteparin Approved Not Applicable 9005-49-6
37
Enoxaparin Approved Not Applicable 9005-49-6 772
38
Sodium Citrate Approved, Investigational 68-04-2
39
tannic acid Approved Not Applicable 1401-55-4
40
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
41
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
42
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
43 Anticoagulants Not Applicable
44 calcium heparin Not Applicable
45 Heparin, Low-Molecular-Weight Not Applicable
46 Calcium, Dietary Not Applicable
47 Phosphodiesterase Inhibitors
48 Phosphodiesterase 5 Inhibitors
49 Citrate
50 Sildenafil Citrate 171599-83-0

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Completed NCT00799045 Phase 4 Clopidogrel
2 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Suspended 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 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
11 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
12 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Unknown status NCT02453451 Not Applicable
13 International Registry for ASD Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
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 FIH Study With CBSO Completed NCT01960491 Not Applicable
21 Percutaneous Closure of Atrial Septal Defects in Children: Integration of 3D Echocardiography and Fluoroscopy Imaging. Completed NCT02529111 Not Applicable
22 Safety and Effectiveness Study of the Solysafe Septal Occluder in Patients With Atrial Septum Defect and Patent Foramen Ovale Completed NCT00207376 Not Applicable
23 Safety and Effectiveness Study of the Solysafe Septal Occluder Completed NCT00353509 Not Applicable
24 Fluid Balance During Closure of Atrial Septal Defect Completed NCT01757743
25 Long-term Safety Study of the GORE® HELEX® Septal Occluder Completed NCT00581308 Not Applicable
26 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
27 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
28 The Effect on EPCs by Successful Cardiac Occlusion Device Implantation Completed NCT02957201 Not Applicable
29 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
30 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
31 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
32 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Not Applicable
33 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
34 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120 Not Applicable
35 Real World Expanded Multicenter Study of the MitraClip® System (REALISM) Completed NCT01931956 Not Applicable
36 Pivotal Study of a Percutaneous Mitral Valve Repair System Completed NCT00209274 Not Applicable
37 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
38 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Recruiting NCT03565471
39 Safety and Efficacy Study of Transcatheter Closure of Ostium Secundum ASDs Recruiting NCT02985684 Not Applicable
40 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758 Not Applicable
41 Non-Invasive Shunt Quantification in Interatrial Communication Recruiting NCT03437148 Not Applicable
42 Safety and Efficacy Study of Absnow Absorbable ASD Closure System For Treating ASD Patients Recruiting NCT03601039 Not Applicable
43 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268 Not Applicable
44 Impact of Congenital Heart Disease on Neurodevelopmental Outcome Recruiting NCT03871881
45 Cardiac Murmurs in Children: Predictive Value of Cardiac Markers Recruiting NCT02746029
46 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225 Not Applicable
47 Genetic and Phenotypic Characteristics of Mitral Valve Prolapse Recruiting NCT03884426
48 Cardiovascular Outcomes Assessment of the MitraClip Percutaneous Therapy for Heart Failure Patients With Functional Mitral Regurgitation (The COAPT Trial) Recruiting NCT01626079 Not Applicable
49 Safety and Efficacy of the GORE® Septal Occluder to Treat Ostium Secundum Atrial Septal Defects Active, not recruiting NCT01711983 Not Applicable
50 Lifetech CeraFlex™ Post-Market Surveillance Study Active, not recruiting NCT02621528 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 30

Anatomical Context for Atrial Heart Septal Defect

MalaCards organs/tissues related to Atrial Heart Septal Defect:

42
Heart, Brain, Lung, Liver, Testes, T Cells, Endothelial

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

20
In The Septum

Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 3053)
# Title Authors Year
1
A case of desmoplakin mutation and delayed arrhythmogenic right ventricular cardiomyopathy/dysplasia after atrial septal defect closure. ( 30996754 )
2019
2
Embolization of high-output idiopathic renal arteriovenous fistula primarily using an atrial septal defect occluder via venous access: a case report. ( 30634947 )
2019
3
Persistent left superior vena cava associating with anomalous right superior vena cava drainage, atrial septal defect and atrial fibrillation: a case report. ( 30614863 )
2019
4
Corynebacterium diphtheriae-infective endocarditis in a patient with an atrial septal defect closure device. ( 31076496 )
2019
5
Correction to: 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. ( 30933623 )
2019
6
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 )
2019
7
Atrial septal defect and patent foramen ovale: early and long-term effects on endothelial function after percutaneous occlusion procedure. ( 30895384 )
2019
8
Percutaneous closure for iatrogenic atrial septal defect composed of a hole with slit fenestration and patent foramen ovale after pulmonary vein isolation. ( 30963465 )
2019
9
The Nuss procedure for pectus excavatum during atrial septal defect closure through a minimal right oblique infra-axillary thoracotomy: A case report. ( 30653093 )
2019
10
Risk Factors for Pulmonary Hypertension in Adults After Atrial Septal Defect Closure. ( 30709596 )
2019
11
Device closure of atrial septal defect with severe pulmonary hypertension in adults: Patient selection with early and intermediate term results. ( 30346095 )
2019
12
Takayasu Arteritis with Atrial Septal Defect Presenting as Sterile Corneal Melt. ( 30935183 )
2019
13
Comparison of Remifentanil-Based Fast-Track and Fentanyl-Based Routine Cardiac Anesthesia for Intraoperative Device Closure of Atrial Septal Defect (ASD) in Pediatric Patients. ( 30759074 )
2019
14
The Burden of Migraine in Adults with Atrial Septal Defect: A Nationwide Cohort Study. ( 31092873 )
2019
15
Cocoon devices for transcatheter closure of atrial septal defect and patent ductus arteriosus in children: Single center experience. ( 30855458 )
2019
16
Analysis of NKX2-5 in 439 Chinese Patients with Sporadic Atrial Septal Defect. ( 30982828 )
2019
17
Iatrogenic atrial septal defect closure after transseptal mitral valve interventions: Indications and outcomes. ( 31001927 )
2019
18
Misplaced Ventricular Lead via an Atrial Septal Defect-Percutaneous Extraction. ( 31011506 )
2019
19
The repeating dislodgement of an Amplatzer Septal Occluder device during recovery from general anesthesia in an adult undergoing transcatheter closure of atrial septal defect : a case report. ( 31064940 )
2019
20
Coronary Confusion? An Unexpected Congenital Anomaly in a Patient with an Ostium Secundum Atrial Septal Defect. ( 31072707 )
2019
21
Anomalous retroaortic paravertebral course of the left innominate vein in a child with atrial septal defect. ( 31088015 )
2019
22
Solysafe Device Pushed Away by Amplatzer Septal Occluder After Closure of a Residual Atrial Septal Defect. ( 31103536 )
2019
23
Transcatheter mitral valve replacement in severe mitral annular calcification and atrial septal defect closure. ( 29681536 )
2019
24
Impact of atrial septal defect closure on diffusing capacity for nitric oxide and carbon monoxide. ( 30972347 )
2019
25
Successful totally transthoracic echocardiography guided transcatheter device closure of atrial septal defect in pregnant women. ( 30968038 )
2019
26
Rare case of a superior sinus venosus atrial septal defect presenting with cyanosis. ( 30950362 )
2019
27
A Very Long-term Longitudinal Study on the Evolution and Clinical Outcomes of Persistent Iatrogenic Atrial Septal Defect After Cryoballoon Ablation. ( 30935630 )
2019
28
A rare case of unroofed coronary sinus with a secundum atrial septal defect incidentally detected by computed tomography. ( 30902581 )
2019
29
Atrial septal defect causing angina. ( 30862171 )
2019
30
Electrical remodeling after percutaneous atrial septal defect closure in pediatric and adult patients. ( 30857845 )
2019
31
Lifelong burden of small unrepaired atrial septal defect: Results from the Danish National Patient Registry. ( 30826194 )
2019
32
Atrial Septal Defect of the Ostium Secundum Type in A 101-Year-Old Patient. ( 30799379 )
2019
33
Percutaneous closure of a large atrial septal defect presenting with acute severe hemolysis. ( 30737529 )
2019
34
Three-dimensional echocardiographic demonstration of aortic wall erosion after percutaneous atrial septal defect closure. ( 30729539 )
2019
35
Strategy of treating secundum atrial septal defect not referred to percutaneous closure. ( 30714327 )
2019
36
Off-label use of duct occluder in transcatheter closure of secundum atrial septal defect with no rim to right pulmonary vein. ( 30712912 )
2019
37
Atrial septal defect closure in adulthood is associated with normal survival in the mid to longer term. ( 30705053 )
2019
38
Endoscopic Closure of Esophagopleural Fistula With AMPLATZER Atrial Septal Defect Closure Device. ( 30694870 )
2019
39
The left ventricle in atrial septal defect: Looking through 3D glasses. ( 30693554 )
2019
40
Wire-frame integrity of patch-like Gore devices following atrial septal defect closure. ( 30680882 )
2019
41
Isolated Right Ventricular Apical Hypoplasia Without Atrial Septal Defect. ( 30674751 )
2019
42
Assessment of ventricular function in patients of atrial septal defect by strain imaging before and after correction. ( 30648678 )
2019
43
Long-term outcome of catheter ablation for atrial tachyarrhythmias in patients with atrial septal defect. ( 30603853 )
2019
44
Atrial septal defect occluder devices for closure of tracheoesophageal fistulas: are they safe? ( 30598605 )
2019
45
Unroofed coronary sinus atrial septal defect. ( 30597633 )
2019
46
Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6. ( 30538173 )
2019
47
Left atrial pressure is associated with iatrogenic atrial septal defect after mitral valve clip. ( 30482796 )
2019
48
State-of-the-Art Atrial Septal Defect Closure Devices for Congenital Heart. ( 30449418 )
2019
49
Long-term effects of combined percutaneous atrial septal defect occlusion and pulmonary valvuloplasty in children < 2.5 years old. ( 30427530 )
2019
50
Safety and efficacy of transcatheter closure of atrial septal defect type II under transthoracic echocardiographic guidance: A case control study. ( 30337795 )
2019

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

6 (show top 50) (show all 445)
# 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

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
12.38 DMD GATA4 MYH6 NKX2-5 TBX5
2
Show member pathways
12.13 DMD GATA4 GATA6 NKX2-5
3
Show member pathways
12.07 CFC1 GATA4 NKX2-5 TBX5
4 11.76 GATA4 NKX2-5 TBX5
5 11.2 FOXC1 GATA4 GATA6
6 11.08 GATA4 MYH6 NKX2-5 TBX20 TBX5
7 10.78 GATA4 NKX2-5
8 10.76 FOXC1 GATA4 GATA6 NKX2-5 TBX20 TBX5
9 9.93 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 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 FOXC1 GATA4 GATA6 NKX2-5 TBX20 TBX5
2 BMP signaling pathway GO:0030509 9.72 CFC1 MYH6 NKX2-5
3 heart looping GO:0001947 9.69 GATA4 NKX2-5 TBX20
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 FOXC1 MYH6
5 cardiac muscle contraction GO:0060048 9.63 DMD MYH6 NKX2-5
6 aortic valve morphogenesis GO:0003180 9.62 GATA4 TBX20
7 cardiac muscle tissue morphogenesis GO:0055008 9.61 NKX2-5 TBX20
8 transcription by RNA polymerase II GO:0006366 9.61 GATA4 GATA6
9 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 GATA6 TBX20 TBX5
10 cardiac muscle tissue development GO:0048738 9.6 GATA6 NKX2-5
11 adult heart development GO:0007512 9.59 MYH6 NKX2-5
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.58 GATA6 MYH6
13 cardiac muscle cell proliferation GO:0060038 9.58 FOXC1 NKX2-5
14 cardiac right ventricle morphogenesis GO:0003215 9.57 GATA4 TBX20
15 endocardial cushion development GO:0003197 9.56 GATA4 TBX5
16 heart development GO:0007507 9.56 CFC1 FOXC1 NKX2-5 TBX5
17 cardiac ventricle morphogenesis GO:0003208 9.54 GATA4 NKX2-5
18 outflow tract septum morphogenesis GO:0003148 9.54 GATA6 NKX2-5 TBX20
19 embryonic heart tube development GO:0035050 9.5 FOXC1 NKX2-5 TBX20
20 intestinal epithelial cell differentiation GO:0060575 9.49 GATA4 GATA6
21 cardiac muscle cell differentiation GO:0055007 9.46 GATA4 GATA6 NKX2-5 TBX5
22 bundle of His development GO:0003166 9.4 NKX2-5 TBX5
23 atrial septum morphogenesis GO:0060413 9.26 GATA4 NKX2-5 TBX20 TBX5
24 positive regulation of cardioblast differentiation GO:0051891 8.92 GATA4 GATA6 NKX2-5 TBX5
25 regulation of transcription, DNA-templated GO:0006355 10.16 DMD FOXC1 GATA4 GATA6 NKX2-5 TBX20
26 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 FOXC1 GATA4 GATA6 NKX2-5 TBX20 TBX5
27 multicellular organism development GO:0007275 10.07 CFC1 F2 FOXC1 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 DNA-binding transcription factor activity GO:0003700 9.8 FOXC1 GATA4 GATA6 NKX2-5 TBX20 TBX5
2 sequence-specific DNA binding GO:0043565 9.77 FOXC1 GATA4 GATA6 NKX2-5 TBX5
3 transcription regulatory region DNA binding GO:0044212 9.56 FOXC1 GATA4 GATA6 NKX2-5
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 GATA4 GATA6 NKX2-5 TBX20 TBX5
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 FOXC1 GATA4 NKX2-5 TBX5
6 enhancer sequence-specific DNA binding GO:0001158 9.1 GATA4
7 transcription factor binding GO:0008134 9.02 FOXC1 GATA4 GATA6 NKX2-5 TBX5

Sources for Atrial Heart Septal Defect

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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