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 73 36 29 6 32
Atrial Septal Defects 54 15
Congenital Atrial Septal Defect 12
Interauricular Septal Defect 12
Heart Septal Defects, Atrial 44
Interatrial Septal Defect 12
Auricular Septal Defect 12
Septal Defect, Atrial 39
Atrioseptal Defect 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1882
KEGG 36 H00546
MeSH 44 D006344
NCIt 50 C84473
SNOMED-CT 67 156915002
ICD10 32 Q21.1
UMLS 70 C0018817

Summaries for Atrial Heart Septal Defect

KEGG : 36 Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease.

MalaCards based summary : Atrial Heart Septal Defect, also known as atrial septal defect, is related to patent foramen ovale and atrial septal defect 2. 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 Human Embryonic Stem Cell Pluripotency. The drugs Clopidogrel and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include in the septum, heart and lung, and related phenotypes are cardiovascular system and homeostasis/metabolism

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

Wikipedia : 73 Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper... 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 574)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 33.6 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
2 atrial septal defect 2 33.4 TBX5 TBX20 NKX2-5 GATA4
3 atrial septal defect 9 33.1 PRODH CFAP47
4 holt-oram syndrome 33.0 TBX5 TBX20 NKX2-5 MYH6 GATA4
5 atrial septal defect 4 32.9 TBX20 HDAC8
6 ventricular septal defect 32.8 TBX5 SMARCA4 NPPB NKX2-5 GATA4 CHD7
7 tricuspid atresia 32.8 TBX5 TBX20 PRODH NKX2-5 GATA4
8 hypoplastic right heart syndrome 32.8 TBX5 TBX20 NKX2-5
9 interatrial communication 32.7 TBX5 TBX20 SMARCA4 SETBP1 RPL5 NKX2-5
10 atrioventricular septal defect 32.7 TBX5 TBX20 NKX2-5 MYH6 GATA4 CHD7
11 hypoplastic left heart syndrome 32.6 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
12 mitral valve insufficiency 32.2 TBX5 NPPB MYH6
13 atrioventricular block 32.0 TBX5 NPPB NKX2-5 GATA4
14 patent ductus arteriosus 1 31.9 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
15 pulmonary valve stenosis 31.9 TBX5 TBX20 NKX2-5 GATA4
16 tetralogy of fallot 31.8 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
17 sinoatrial node disease 31.7 TBX5 NKX2-5 MYH6
18 dextro-looped transposition of the great arteries 31.7 TBX5 NPPB NKX2-5 GATA4
19 heart disease 31.6 TBX5 TBX20 SMARCA4 PRODH NPPB NKX2-5
20 total anomalous pulmonary venous return 1 31.5 TBX5 NKX2-5 GATA4
21 ebstein anomaly 31.4 TBX5 TBX20 NKX2-5 MYH6 GATA4
22 wolff-parkinson-white syndrome 31.4 TBX20 NPPB NKX2-5 MYH6
23 heart septal defect 31.3 TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
24 lipoprotein quantitative trait locus 31.3 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
25 aortic valve disease 2 31.3 TBX5 NPPB NKX2-5 MYH6 GATA4
26 heart valve disease 31.3 NPPB NKX2-5 MYH6
27 dilated cardiomyopathy 31.2 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
28 double outlet right ventricle 31.1 TBX5 TBX20 NKX2-5 MYH6 GATA4 CHD7
29 left ventricular noncompaction 31.0 TBX5 TBX20 NKX2-5 MYH6 GATA4 DMD
30 myocarditis 30.8 NPPB MYH6 DMD
31 pulmonary valve disease 30.8 TBX5 NPPB NKX2-5 GATA4
32 aortic valve disease 1 30.7 TBX5 TBX20 NKX2-5 MYH6 GATA4
33 kabuki syndrome 1 30.7 SMARCA4 CREBBP CHD7
34 tarp syndrome 11.9
35 atrial septal defect 7 with or without atrioventricular conduction defects 11.8
36 lymphatic malformation 7 11.8
37 atrial septal defect 1 11.7
38 atrial septal defect 5 11.7
39 atrial septal defect 6 11.7
40 atrial septal defect 3 11.7
41 atrial septal defect 8 11.7
42 atrial heart septal defect 7 11.6
43 atrial septal defect sinus venosus 11.6
44 atrial septal defect coronary sinus 11.5
45 neutropenia, severe congenital, 4, autosomal recessive 11.5
46 atrial septal defect ostium primum 11.5
47 irons bhan syndrome 11.4
48 shashi-pena syndrome 11.4
49 familial pulmonary arterial hypertension leucopenia and atrial septal defect 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

Symptoms & Phenotypes for Atrial Heart Septal Defect

MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 CHD7 CREBBP DMD FOXC1 GATA4 HDAC8
2 homeostasis/metabolism MP:0005376 10.28 ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
3 growth/size/body region MP:0005378 10.27 ABCC8 CHD7 CREBBP DMD FOXC1 GATA4
4 cellular MP:0005384 10.26 ACTL6A CHD7 CREBBP DMD FOXC1 GATA4
5 mortality/aging MP:0010768 10.21 ACTL6A CHD7 CREBBP DMD FOXC1 GATA4
6 embryo MP:0005380 10.13 CHD7 CREBBP FOXC1 GATA4 HDAC8 NKX2-5
7 craniofacial MP:0005382 10.05 CHD7 CREBBP FOXC1 HDAC8 NKX2-5 SMARCA4
8 digestive/alimentary MP:0005381 10.04 CHD7 CREBBP DMD FOXC1 GATA4 NKX2-5
9 muscle MP:0005369 10.02 CHD7 CREBBP DMD FOXC1 GATA4 MYH6
10 limbs/digits/tail MP:0005371 10.01 CHD7 CREBBP DMD FOXC1 GATA4 PRODH
11 nervous system MP:0003631 10 CHD7 CREBBP DMD FOXC1 GATA4 HDAC8
12 normal MP:0002873 9.81 CREBBP DMD FOXC1 GATA4 HDAC8 NKX2-5
13 respiratory system MP:0005388 9.61 CHD7 CREBBP DMD FOXC1 GATA4 MYH6
14 skeleton MP:0005390 9.28 CHD7 CREBBP DMD FOXC1 GATA4 HDAC8

Drugs & Therapeutics for Atrial Heart Septal Defect

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

(show all 40)
# 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
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
10 Purinergic P2Y Receptor Antagonists Phase 4
11 Neurotransmitter Agents Phase 4
12 Platelet Aggregation Inhibitors Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Hypnotics and Sedatives Phase 4
15 Anesthetics, Dissociative Phase 4
16 Anesthetics, General Phase 4
17 Anesthetics, Intravenous Phase 4
18 Excitatory Amino Acid Antagonists Phase 4
19 Adrenergic Agonists Phase 4
20 Adrenergic Agents Phase 4
21 Analgesics Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Anesthetics Phase 4
24 Pharmaceutical Solutions Phase 4
25 Epinephryl borate Phase 4
26 Carticaine Phase 4
27 Anesthetics, Local Phase 4
28
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
29 Endothelin Receptor Antagonists Phase 3
30 Antihypertensive Agents Phase 3
31
Enoxaparin Approved 9005-49-6 772
32
Dalteparin Approved 9005-49-6
33
Heparin Approved, Investigational 9005-49-6 772 9812414
34
Tinzaparin Approved 9041-08-1, 9005-49-6 25244225
35 Fibrinolytic Agents
36 Anticoagulants
37 Heparin, Low-Molecular-Weight
38 calcium heparin
39 Sildenafil Citrate 171599-83-0
40
Nickel 7440-02-0 934

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Randomized Clinical Trial Comparing the Efficacy of Percutaneous Closure of Patent Foramen Ovale (PFO) With Medical Treatment in Patients With Cryptogenic Embolism Unknown status NCT00166257 Phase 4 Medical antitrhombotic treatment
2 Clopidogrel On Top of Aspirin For the Prevention of New Onset Migraine Headache Occurrence Following Transcatheter Closure of Atrial Septal Defects: A Prospective Randomized Trial (the CANOA Study) Completed NCT00799045 Phase 4 Clopidogrel
3 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Out-patients Undergoing Diagnostic Trans-esophageal Echocardiography: A Randomized Controlled Trial Completed NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
4 Comparison of Periosteal and Subcutaneous Infusions of Articaine and Bupivacaine in Treatment of Acute Pain After Sternotomy Suspended NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
5 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Persistent Study Completed NCT00506493 Phase 3
6 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 Phase 3
7 BOsentan for Mild Pulmonary Vascular Disease in Asd Patients (the BOMPA Trial): a Double-blind, Randomized Controlled, Pilot Trial Completed NCT01218607 Phase 3 Bosentan;Placebo
8 The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
9 Iatrogenic Atrial Septal Defect Study Recruiting NCT04395027 Phase 3
10 Effect of Septal Closure of Atrial PFO on Events of Migraine With Premere: ESCAPE Migraine Trial Terminated NCT00267371 Phase 3 Medical management/current medications per standard of care by personal physician.
11 A With-in Subject, Controlled Study to Determine the Sensitivity and Specificity of the Cardiox Flow Detection System for the Detection of Right-to-Left Cardiac Shunts Compared to Transesophageal Echocardiography and Transcranial Doppler Ultrasound Terminated NCT01773252 Phase 3
12 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
13 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
14 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
15 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
16 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
17 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
18 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
19 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
20 Random, Controlled, Single-blinded, Multi-center and Non-inferiority Clinical Study to Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Unknown status NCT03176225
21 Shunt Quantification in Atrial Septal Defect Using Inert Gas Rebreathing and Thoracic Bioimpedance: Comparison With the Gold Standard Method Unknown status NCT03437148
22 GORE® HELEX® Septal Occluder Post-Approval Study Completed NCT00581308
23 GORE® Septal Occluder Clinical Study: A Study to Evaluate Safety and Efficacy in the Treatment of Transcatheter Closure of Ostium Secundum Atrial Septal Defects (ASDs) Completed NCT01711983
24 A Randomized, Controlled,Multi-Centre Trial of the Efficacy and Safety of the Occlutech Septal Occluder(Figulla Flex II) Compared to the AGA Septal Occluder(Amplatzer ASO) for Transcatheter Closure of Secundum ASD in Patients Completed NCT04488120
25 Integration of Three-dimensional Echocardiography and Fluoroscopy Imaging During the Percutaneous Closure of intAtrial Septal Defects in Children: CIA-3D-navigator. Completed NCT02529111
26 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
27 Prospective Mono-center Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) Completed NCT00353509
28 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446
29 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Completed NCT00650936
30 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Completed NCT03565471
31 Prospective Single Center Pilot Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device With Biodegradable Framework in Patients With Clinically Significant Atrial Septum Defect (ASD) or Patent Foramen Ovale (PFO) Completed NCT01960491
32 Prospective Multicenter Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) and Patent Foramen Ovale (PFO) Completed NCT00207376
33 European CURE-AF Study - Concomitant Utilization of Radiofrequency Energy for Atrial Fibrillation Completed NCT04645615
34 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
35 Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect Completed NCT00478296
36 Multi-center, Prospective, Post-market Study Completed NCT02621528
37 Single-center Non-comparative, Prospective Interventional Clinical Investigation on the Procedural Success and Safety of the Nit-Occlud® PFO Closure Device and Its Application System. Completed NCT00968032
38 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
39 The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation Completed NCT02957201
40 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
41 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
42 Protein Distribution and Colloid Osmotic Pressure in Children With Volume and Pressure Loading Due to Congenital Heart Defects Completed NCT01757743
43 Assessment of Left and Right Ventricular Strain and Strain Rate Before and After Percutaneous Closure of Atrial Septal Defects in Adults and Adolescents Recruiting NCT04091919
44 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758
45 A Randomized Multicenter Comparison Trial to Evaluate the Effectiveness and Safety of the Guidewire for Echo-guided Interventions in Treating ASD Recruiting NCT04096924
46 Evaluation of the Safety and Efficacy of the reSept ASD Occluder to Treat Patients With Clinically Significant Secundum Atrial Septal Defect Recruiting NCT04591392
47 Evaluation of Safety and Efficacy of the Absnow Absorbable ASD Closure System For Treating ASD Patients Recruiting NCT03601039
48 Amplatzer™ Trevisio™ Delivery System Post-Approval Study Recruiting NCT04433520
49 GORE® CARDIOFORM ASD Occluder Clinical Study: A Study to Evaluate Safety and Efficacy in the Treatment of Transcatheter Closure of Ostium Secundum Atrial Septal Defects (ASDs) - The Gore ASSURED Clinical Study Active, not recruiting NCT02985684
50 Multi Centre, International, Post Market Registry to Monitor the Clinical Performance and Safety of an Atrial Septal Closure Device With Bioresorbable Framework in Patients With Clinically Significant Atrial Septum Defect (ASD) or Patent Foramen Ovale (PFO) in Routine Clinical Use Active, not recruiting NCT04105595

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:

40
Heart, Lung, Brain, Liver, Endothelial, Spinal Cord, Kidney

Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 8889)
# Title Authors PMID Year
1
Usefulness of early diastolic mitral annular velocity to predict plasma levels of brain natriuretic peptide and transient heart failure development after device closure of atrial septal defect. 61 54
19962485 2009
2
[Mutation of NKX2-5 gene in patients with atrial septal defect]. 54 61
20021795 2009
3
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. 61 54
19678963 2009
4
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. 61 54
19049681 2009
5
Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect. 61 54
18305343 2007
6
Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. 54 61
17184575 2007
7
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications. 54 61
17255809 2007
8
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? 61 54
16896344 2006
9
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 61 54
15810002 2005
10
Mutation in myosin heavy chain 6 causes atrial septal defect. 54 61
15735645 2005
11
The natriuretic peptides and their role in disorders of right heart dysfunction and pulmonary hypertension. 61 54
15369714 2004
12
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 54 61
15235040 2004
13
Quantitative evaluation of the changes in plasma concentrations of cardiac natriuretic peptide before and after transcatheter closure of atrial septal defect. 54 61
12162595 2002
14
Developmental paradigms in heart disease: insights from tinman. 54 61
12173684 2002
15
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. 54 61
11073884 2000
16
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 61 54
10587520 1999
17
Secretion patterns of brain natriuretic peptide and atrial natriuretic peptide in patients with or without pulmonary hypertension complicating atrial septal defect. 61 54
9704693 1998
18
Plasma brain natriuretic peptide levels increase in proportion to the extent of right ventricular dysfunction in pulmonary hypertension. 54 61
9426041 1998
19
A novel closure device for atrial septal defect: Much more to learn and experience. 61
33529667 2021
20
Potential Impact of Right Atrial Pressure on Acute Predominant Right-to-Left Shunt Across an Iatrogenic Atrial Septal Defect After MitraClip Procedure. 61
32493664 2021
21
Use of a cutting stapler to excise a left atrial appendage in minimally invasive cardiac surgery. 61
32770364 2021
22
Edge to edge repair using a MitraClip for severe tricuspid valve regurgitation after a Mustard operation. 61
33793055 2021
23
Automated interpretation of congenital heart disease from multi-view echocardiograms. 61
33418465 2021
24
Feasibility of robotic-assisted atrial septal defect repair in a 6-year-old patient. 61
33085979 2021
25
Cardiac erosion causing an aortic dissection after a catheter closure of an atrial septal defect: first late erosion case with the Figulla Flex II septal occluder. 61
32248357 2021
26
Remifentanil-based fast-track cardiac anesthesia combined with the postoperative serratus anterior plane block for transthoracic device closure of atrial septal defect in pediatric patients. 61
33811664 2021
27
Percutaneous closure of residual atrial septal defect after surgical closure. 61
32406034 2021
28
Assessment of long-term cardiac adaptation in adult patients with type II atrial septal defect : A cardiovascular magnetic resonance (CMR) study. 61
33037912 2021
29
Atrial septal defect occlusion by a catheter during reperfusion of homograft in a case of living donor liver transplantation. 61
33682672 2021
30
Left atrial schwannoma in schwannomatosis: a case report. 61
33759073 2021
31
Evolution and Current Results of a Unified Strategy for Sinus Venosus Surgery. 61
32437676 2021
32
Cobra head deformity of atrial septal occluder: blessing in disguise. 61
33203483 2021
33
Transcatheter ventricular septal rupture closure: A challenging case of basal inferoseptal aneurysm and rupture. 61
33709921 2021
34
Diagnosis of a giant left atrial appendage aneurysm by contrast-enhanced echocardiography: Case report and literature review. 61
33301199 2021
35
Surgical correction for scimitar syndrome by right thoracotomy and direct anastomosis in children. 61
33778427 2021
36
Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report. 61
33750440 2021
37
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. 61
33340101 2021
38
Pierre Robin sequence with tetralogy of Fallot: An unusual finding. 61
33708045 2021
39
[Absence of arterial duct in fetus: an autopsy analysis]. 61
33677884 2021
40
The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with: Pulmonary Valve Stenosis. 61
33794220 2021
41
Computed tomography features of cor triatriatum: an institutional review. 61
33400560 2021
42
Mechanical thrombectomy for middle cerebral artery occlusion associated with ovarian hyperstimulation syndrome: case report and review of the literature. 61
33752418 2021
43
Antiphospholipid syndrome leading to paradoxical embolus and stroke via secundum atrial septal defect. 61
33727291 2021
44
Closure of secundum atrial septal defect with a fenestrated occluder in a patient with severe pulmonary hypertension. 61
33687866 2021
45
N-terminal pro-B-type-natriuretic peptide as a screening tool for pulmonary hypertension in the paediatric population. 61
33650482 2021
46
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature. 61
33721060 2021
47
Association between gestational exposure and risk of congenital heart disease: A systematic review and meta-analysis. 61
33716027 2021
48
Risk factors and outcomes of prolonged cardiopulmonary bypass time in surgery for adult congenital heart disease: a single-center study from a low-middle-income country. 61
33688708 2021
49
Left atrial decompression as a palliative minimally invasive treatment for congestive heart failure caused by myxomatous mitral valve disease in dogs: 17 cases (2018-2019). 61
33683957 2021
50
Safety of Transseptal Puncture for Access to the Left Atrium in Infants and Children. 61
33454819 2021

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DIPK1A , RPL5 NM_000969.5(RPL5):c.74-1G>C SNV Pathogenic 523383 rs1553284997 GRCh37: 1:93299101-93299101
GRCh38: 1:92833544-92833544
2 DMD NM_004006.2(DMD):c.93+1G>C SNV Pathogenic 523470 rs886042604 GRCh37: X:33038255-33038255
GRCh38: X:33020138-33020138
3 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic 523473 rs1554093433 GRCh37: 5:172659836-172659836
GRCh38: 5:173232833-173232833
4 ABCC8 NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) SNV Likely pathogenic 523361 rs1344172059 GRCh37: 11:17452385-17452385
GRCh38: 11:17430838-17430838
5 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) SNV Likely pathogenic 35609 rs141322087 GRCh37: 11:17426099-17426099
GRCh38: 11:17404552-17404552
6 TBX5 NM_000192.3(TBX5):c.253C>A (p.Pro85Thr) SNV Likely pathogenic 626359 rs1565941579 GRCh37: 12:114837427-114837427
GRCh38: 12:114399622-114399622
7 SMARCA4 NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) SNV Likely pathogenic 816865 GRCh37: 19:11134234-11134234
GRCh38: 19:11023558-11023558
8 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) SNV Likely pathogenic 549661 rs868064163 GRCh37: 3:179304340-179304340
GRCh38: 3:179586552-179586552
9 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) SNV Likely pathogenic 523513 rs1555706928 GRCh37: 18:42531919-42531919
GRCh38: 18:44951954-44951954
10 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) SNV Likely pathogenic 523522 rs367557471 GRCh37: 8:61734614-61734614
GRCh38: 8:60822055-60822055
11 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) SNV Likely pathogenic 523523 rs1556009247 GRCh37: X:71710823-71710823
GRCh38: X:72490973-72490973
12 CREBBP NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) SNV Likely pathogenic 598959 rs1567263168 GRCh37: 16:3779445-3779445
GRCh38: 16:3729444-3729444
13 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.809-58TG[21] Microsatellite Conflicting interpretations of pathogenicity 315708 rs59431308 GRCh37: 15:35083509-35083512
GRCh38: 15:34791308-34791311
14 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*247G>A SNV Uncertain significance 315698 rs886051088 GRCh37: 15:35082366-35082366
GRCh38: 15:34790165-34790165
15 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1781C>T SNV Uncertain significance 315651 rs560065427 GRCh37: 15:35080832-35080832
GRCh38: 15:34788631-34788631
16 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.-194C>A SNV Uncertain significance 315722 rs886051099 GRCh37: 15:35087878-35087878
GRCh38: 15:34795677-34795677
17 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.-105C>A SNV Uncertain significance 315719 rs886051096 GRCh37: 15:35087789-35087789
GRCh38: 15:34795588-34795588
18 MYH6 NM_002471.3(MYH6):c.934G>A (p.Ala312Thr) SNV Uncertain significance 312880 rs748143404 GRCh37: 14:23871974-23871974
GRCh38: 14:23402765-23402765
19 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1482G>T SNV Uncertain significance 315657 rs886051066 GRCh37: 15:35081131-35081131
GRCh38: 15:34788930-34788930
20 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*307T>A SNV Uncertain significance 315695 rs886051086 GRCh37: 15:35082306-35082306
GRCh38: 15:34790105-34790105
21 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.809-58TG[22] Microsatellite Uncertain significance 315707 rs59431308 GRCh37: 15:35083509-35083510
GRCh38: 15:34791308-34791309
22 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.-109C>A SNV Uncertain significance 315720 rs886051097 GRCh37: 15:35087793-35087793
GRCh38: 15:34795592-34795592
23 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.809-58TG[25] Microsatellite Uncertain significance 315710 rs59431308 GRCh37: 15:35083508-35083509
GRCh38: 15:34791307-34791308
24 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*224G>C SNV Uncertain significance 315699 rs551820554 GRCh37: 15:35082389-35082389
GRCh38: 15:34790188-34790188
25 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*643C>A SNV Uncertain significance 315687 rs886051081 GRCh37: 15:35081970-35081970
GRCh38: 15:34789769-34789769
26 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1502G>T SNV Uncertain significance 315656 rs886051065 GRCh37: 15:35081111-35081111
GRCh38: 15:34788910-34788910
27 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1318T>G SNV Uncertain significance 315660 rs759530643 GRCh37: 15:35081295-35081295
GRCh38: 15:34789094-34789094
28 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.-36C>G SNV Uncertain significance 315713 rs886051091 GRCh37: 15:35087720-35087720
GRCh38: 15:34795519-34795519
29 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.809-58TG[24] Microsatellite Uncertain significance 315705 rs59431308 GRCh37: 15:35083508-35083509
GRCh38: 15:34791307-34791308
30 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1070A>C SNV Uncertain significance 315666 rs886051071 GRCh37: 15:35081543-35081543
GRCh38: 15:34789342-34789342
31 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.-55C>A SNV Uncertain significance 315715 rs886051093 GRCh37: 15:35087739-35087739
GRCh38: 15:34795538-34795538
32 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.-55_-53CCG[3] Microsatellite Uncertain significance 315714 rs886051092 GRCh37: 15:35087733-35087734
GRCh38: 15:34795532-34795533
33 MYH6 NM_002471.3(MYH6):c.3979-17dup Duplication Uncertain significance 179575 rs193922652 GRCh37: 14:23858271-23858272
GRCh38: 14:23389062-23389063
34 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*708G>T SNV Uncertain significance 315683 rs886051077 GRCh37: 15:35081905-35081905
GRCh38: 15:34789704-34789704
35 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*646C>A SNV Uncertain significance 315686 rs886051080 GRCh37: 15:35081967-35081967
GRCh38: 15:34789766-34789766
36 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*983C>T SNV Uncertain significance 315670 rs549986676 GRCh37: 15:35081630-35081630
GRCh38: 15:34789429-34789429
37 MYLK NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) SNV Uncertain significance 403212 rs368390254 GRCh37: 3:123401086-123401086
GRCh38: 3:123682239-123682239
38 SOS1 NM_005633.3(SOS1):c.1352C>A (p.Thr451Lys) SNV Uncertain significance 180531 rs730880218 GRCh37: 2:39250217-39250217
GRCh38: 2:39023076-39023076
39 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*422T>A SNV Uncertain significance 315692 rs886051084 GRCh37: 15:35082191-35082191
GRCh38: 15:34789990-34789990
40 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.809-12_809-11insGT Insertion Uncertain significance 315704 rs774238821 GRCh37: 15:35083507-35083508
GRCh38: 15:34791306-34791307
41 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*284G>A SNV Uncertain significance 315696 rs886051087 GRCh37: 15:35082329-35082329
GRCh38: 15:34790128-34790128
42 LOC114827851 , MYH6 NM_002471.3(MYH6):c.212T>C (p.Val71Ala) SNV Uncertain significance 312883 rs769686237 GRCh37: 14:23874969-23874969
GRCh38: 14:23405760-23405760
43 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.809-58TG[26] Microsatellite Uncertain significance 315706 rs59431308 GRCh37: 15:35083508-35083509
GRCh38: 15:34791307-34791308
44 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1753G>T SNV Uncertain significance 315652 rs886051064 GRCh37: 15:35080860-35080860
GRCh38: 15:34788659-34788659
45 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.*1115A>T SNV Uncertain significance 315664 rs886051069 GRCh37: 15:35081498-35081498
GRCh38: 15:34789297-34789297
46 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.978C>A (p.Thr326=) SNV Uncertain significance 315703 rs886051089 GRCh37: 15:35083327-35083327
GRCh38: 15:34791126-34791126
47 MYH6 NM_002471.3(MYH6):c.1822G>A (p.Ala608Thr) SNV Uncertain significance 312875 rs886050409 GRCh37: 14:23868006-23868006
GRCh38: 14:23398797-23398797
48 MYH6 NM_002471.3(MYH6):c.675C>T (p.Asn225=) SNV Uncertain significance 312882 rs886050413 GRCh37: 14:23873565-23873565
GRCh38: 14:23404356-23404356
49 MYH6 NM_002471.3(MYH6):c.3604G>A (p.Val1202Met) SNV Uncertain significance 312860 rs368451573 GRCh37: 14:23859394-23859394
GRCh38: 14:23390185-23390185
50 ACTC1 , GJD2-DT NM_005159.4(ACTC1):c.-101G>T SNV Uncertain significance 315718 rs886051095 GRCh37: 15:35087785-35087785
GRCh38: 15:34795584-34795584

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 TBX5 NKX2-5 MYH6 GATA4 DMD
2
Show member pathways
12.22 TBX5 NPPB NKX2-5 GATA4
3
Show member pathways
11.88 TBX5 NKX2-5 GATA4 CREBBP
4 11.75 MYH6 GATA4 CREBBP
5 11.68 TBX5 SMARCA4 NKX2-5 GATA4
6 11.61 TBX5 NKX2-5 GATA4
7
Show member pathways
11.43 SMARCA4 CREBBP ACTL6A
8 11.08 TBX5 TBX20 NKX2-5 MYH6 GATA4
9 10.68 TBX5 TBX20 NKX2-5 GATA4 FOXC1
10 10.67 NPPB NKX2-5 GATA4
11 10.15 NKX2-5 GATA4

GO Terms for Atrial Heart Septal Defect

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 TBX5 TBX20 SMARCA4 SETBP1 RPL5 NPPB
2 nucleoplasm GO:0005654 9.9 TBX5 SMARCA4 SETBP1 RPL5 PRODH HDAC8
3 chromatin GO:0000785 9.56 TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
4 SWI/SNF complex GO:0016514 9.37 SMARCA4 ACTL6A
5 npBAF complex GO:0071564 9.32 SMARCA4 ACTL6A
6 protein-containing complex GO:0032991 9.17 TBX5 SMARCA4 RPL5 NPPB NKX2-5 DMD

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.09 TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 TBX20 SMARCA4 NKX2-5 HDAC8 FOXC1 CREBBP
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 TBX5 TBX20 SMARCA4 NKX2-5 HDAC8 GATA4
4 positive regulation of transcription, DNA-templated GO:0045893 9.76 TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
5 chromatin remodeling GO:0006338 9.74 SMARCA4 CHD7 ACTL6A
6 heart looping GO:0001947 9.69 TBX20 NKX2-5 GATA4
7 heart morphogenesis GO:0003007 9.67 NKX2-5 FOXC1 CHD7
8 cardiac muscle contraction GO:0060048 9.65 NKX2-5 MYH6 DMD
9 aortic valve morphogenesis GO:0003180 9.63 TBX20 NKX2-5 GATA4
10 neural retina development GO:0003407 9.58 SMARCA4 ACTL6A
11 cardiac muscle cell differentiation GO:0055007 9.58 TBX5 NKX2-5 GATA4
12 cardiac right ventricle morphogenesis GO:0003215 9.56 TBX20 GATA4
13 cardiac muscle tissue morphogenesis GO:0055008 9.54 TBX20 NKX2-5
14 embryonic heart tube development GO:0035050 9.54 TBX20 NKX2-5 FOXC1
15 endocardial cushion development GO:0003197 9.52 TBX5 GATA4
16 adult heart development GO:0007512 9.5 NKX2-5 MYH6 CHD7
17 positive regulation of cardioblast differentiation GO:0051891 9.13 TBX5 NKX2-5 GATA4
18 atrial septum morphogenesis GO:0060413 8.92 TBX5 TBX20 NKX2-5 GATA4

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 activator activity, RNA polymerase II-specific GO:0001228 9.65 TBX5 TBX20 NKX2-5 GATA4 FOXC1
2 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.32 NKX2-5 GATA4
3 transcription factor binding GO:0008134 9.17 TBX5 SMARCA4 NKX2-5 HDAC8 GATA4 FOXC1
4 hydrolase activity, acting on acid anhydrides GO:0016817 9.16 SMARCA4 CHD7
5 RNA polymerase II transcription factor binding GO:0001085 9.13 TBX20 GATA4 CREBBP

Sources for Atrial Heart Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....