Atrial Heart Septal Defect

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Atrial Heart Septal Defect

MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 11 14 16
Atrial Septal Defect 11 75 28 5 31
Atrial Septal Defects 53 14
Congenital Atrial Septal Defect 11
Interauricular Septal Defect 11
Heart Septal Defects, Atrial 43
Interatrial Septal Defect 11
Auricular Septal Defect 11
Septal Defect, Atrial 38
Atrioseptal Defect 11


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Disease Ontology 11 DOID:1882
MeSH 43 D006344
NCIt 49 C84473
SNOMED-CT 68 156915002
ICD10 31 Q21.1
UMLS 71 C0018817

Summaries for Atrial Heart Septal Defect

Disease Ontology: 11 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 patent foramen ovale and interatrial communication. 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 Dexmedetomidine and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include in the septum, heart and lung, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia: 75 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 698)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 33.8 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
2 interatrial communication 33.7 TBX5 SMARCA4 SETBP1 RPL5 NKX2-5 HDAC8
3 atrial septal defect 2 33.4 TBX5 TBX20 NKX2-5 GATA4
4 atrial septal defect 5 33.3 TBX5 TBX20 NKX2-5
5 atrioventricular septal defect 33.3 TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
6 atrial septal defect 9 33.1 PRODH CFAP47
7 holt-oram syndrome 33.0 TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
8 hypoplastic right heart syndrome 32.9 TBX5 TBX20 NKX2-5
9 tricuspid atresia 32.8 TBX5 TBX20 PRODH NKX2-5 GATA4
10 hypoplastic left heart syndrome 32.7 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
11 ventricular septal defect 32.2 TBX5 TBX20 SMARCA4 PRODH NPPB NKX2-5
12 mitral valve insufficiency 32.2 TBX5 NPPB MYH6
13 atrioventricular block 32.1 TBX5 NPPB NKX2-5 MYH6 GATA4
14 total anomalous pulmonary venous return 1 32.0 TBX5 NKX2-5 GATA4
15 patent ductus arteriosus 1 32.0 TBX5 TBX20 SMARCA4 PRODH NPPB NKX2-5
16 ebstein anomaly 31.9 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
17 orthostatic intolerance 31.9 TBX5 TBX20 NKX2-5 MYH6
18 aortic valve disease 2 31.9 TBX5 NPPB NKX2-5 MYH6 GATA4
19 tetralogy of fallot 31.9 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
20 pulmonary valve stenosis 31.9 TBX5 NKX2-5 GATA4
21 transposition of the great arteries, dextro-looped 31.9 TBX5 TBX20 NPPB NKX2-5 GATA4
22 third-degree atrioventricular block 31.8 TBX5 NPPB NKX2-5 MYH6
23 heart disease 31.7 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
24 congestive heart failure 31.6 NPPB MYH6 GATA4 ABCC8
25 hypertrophic cardiomyopathy 31.6 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
26 lipoprotein quantitative trait locus 31.5 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
27 cardiomyopathy, familial hypertrophic, 1 31.5 NKX2-5 MYH6 GATA4 DMD
28 aortic valve disease 1 31.5 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
29 noonan syndrome 1 31.5 TBX5 TBX20 SETBP1 NKX2-5 MYH6 GATA4
30 wolff-parkinson-white syndrome 31.4 TBX5 TBX20 NPPB NKX2-5 MYH6
31 heart septal defect 31.3 TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
32 left ventricular noncompaction 31.3 TBX5 TBX20 NKX2-5 MYH6 GATA4 DMD
33 dilated cardiomyopathy 31.3 TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
34 heart valve disease 31.3 NPPB NKX2-5 MYH6
35 subvalvular aortic stenosis 31.3 TBX20 NKX2-5
36 double outlet right ventricle 31.1 TBX5 TBX20 NKX2-5 MYH6 GATA4 CHD7
37 charge syndrome 31.1 SMARCA4 PRODH CHD7
38 tricuspid valve stenosis 31.1 NPPB NKX2-5
39 pulmonary valve insufficiency 31.0 NPPB NKX2-5
40 endocardial fibroelastosis 30.9 NPPB NKX2-5 MYH6
41 kabuki syndrome 1 30.7 TBX20 SMARCA4 NKX2-5 CREBBP CHD7 ABCC8
42 jacobsen syndrome 30.7 TBX5 TBX20 NKX2-5 GATA4 CHD7
43 pulmonary valve disease 30.7 TBX5 NPPB NKX2-5 GATA4
44 williams-beuren syndrome 30.7 TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
45 brugada syndrome 30.7 TBX5 NKX2-5 MYH6 GATA4 DMD
46 aortic aneurysm, familial thoracic 1 30.7 TBX5 TBX20 SMARCA4 NKX2-5 MYH6 GATA4
47 long qt syndrome 30.7 TBX5 NKX2-5 MYH6 GATA4 ABCC8
48 right atrial isomerism 30.7 TBX5 TBX20 NKX2-5
49 hypertrichosis 30.5 SMARCA4 CREBBP ABCC8
50 tarp syndrome 11.9

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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
2 homeostasis/metabolism MP:0005376 10.3 ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
3 muscle MP:0005369 10.24 CHD7 CREBBP DMD FOXC1 GATA4 MYH6
4 normal MP:0002873 10.16 CREBBP DMD FOXC1 GATA4 HDAC8 NKX2-5
5 limbs/digits/tail MP:0005371 10.13 CHD7 CREBBP DMD FOXC1 GATA4 PRODH
6 cardiovascular system MP:0005385 10.13 ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
7 embryo MP:0005380 10.1 CHD7 CREBBP FOXC1 GATA4 HDAC8 NKX2-5
8 cellular MP:0005384 10.1 ACTL6A CFAP47 CHD7 CREBBP DMD FOXC1
9 craniofacial MP:0005382 9.97 CHD7 CREBBP FOXC1 HDAC8 NKX2-5 RPL5
10 respiratory system MP:0005388 9.76 CHD7 CREBBP DMD FOXC1 GATA4 MYH6
11 skeleton MP:0005390 9.65 CHD7 CREBBP DMD FOXC1 GATA4 HDAC8
12 mortality/aging MP:0010768 9.47 ACTL6A CHD7 CREBBP DMD FOXC1 GATA4

Drugs & Therapeutics for Atrial Heart Septal Defect

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9 Adrenergic alpha-Agonists Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic Agents Phase 4
12 Neurotransmitter Agents Phase 4
13 Hypnotics and Sedatives Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Analgesics Phase 4
16 Purinergic P2Y Receptor Antagonists Phase 4
17 Platelet Aggregation Inhibitors Phase 4
18 Excitatory Amino Acid Antagonists Phase 4
19 Anesthetics, Intravenous Phase 4
20 Anesthetics, General Phase 4
21 Anesthetics, Dissociative Phase 4
22 Pharmaceutical Solutions Phase 4
23 Epinephryl borate Phase 4
24 Carticaine Phase 4
25 Anesthetics, Local Phase 4
26 Anesthetics Phase 4
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
30 Endothelin Receptor Antagonists Phase 3
31 Antihypertensive Agents Phase 3
32 Plasma-lyte 148 Phase 3
33 Ophthalmic Solutions Phase 3
Heparin, bovine Approved, Investigational, Withdrawn 9005-49-6 22833565 9812414 772
Reviparin Approved, Investigational 9041-08-1
Sildenafil Approved, Investigational 139755-83-2, 171599-83-0 5212 135398744
37 Fibrinolytic Agents
38 Anticoagulants
39 Calcium heparin
40 Heparin, Low-Molecular-Weight
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 The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
6 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
7 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects Recruiting NCT05253209 Phase 3 L-citrulline;Plasmalyte A
8 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
9 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.
10 Iatrogenic Atrial Septal Defect Study Withdrawn NCT04395027 Phase 3
11 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
12 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
13 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
14 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
15 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
16 A Randomized Multicenter Comparison Trial to Evaluate the Effectiveness and Safety of the Guidewire for Echo-guided Interventions in Treating ASD Unknown status NCT04096924
17 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
18 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
19 Suture Mediated Septal Defect Closure/Repair Evaluation of the NobleStitch EL System Unknown status NCT03373929
20 Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect Completed NCT00478296
21 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Completed NCT03565471
22 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
23 Multi-center, Prospective, Post-market Study Completed NCT02621528
24 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Completed NCT00650936
25 The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation Completed NCT02957201
26 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446
27 Assessment of Left and Right Ventricular Strain and Strain Rate Before and After Percutaneous Closure of Atrial Septal Defects in Adults and Adolescents Completed NCT04091919
28 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 Completed NCT02985684
29 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
30 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
31 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
32 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
33 Integration of Three-dimensional Echocardiography and Fluoroscopy Imaging During the Percutaneous Closure of intAtrial Septal Defects in Children: CIA-3D-navigator. Completed NCT02529111
34 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
35 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
36 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
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 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
39 Protein Distribution and Colloid Osmotic Pressure in Children With Volume and Pressure Loading Due to Congenital Heart Defects Completed NCT01757743
40 GORE® HELEX® Septal Occluder Post-Approval Study Completed NCT00581308
41 A Multicenter, Randomized, Parallel-controlled Clinical Trial to Evaluate the Efficacy and Safety of a New Atrial Septal Defect Occluder, ReAces®, and Delivery System for the Treatment of Atrial Septal Defect Occlusion Recruiting NCT05371366
42 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758
43 Evaluation of the Safety and Efficacy of the reSept ASD Occluder to Treat Patients With Clinically Significant Secundum Atrial Septal Defect Recruiting NCT04591392
44 Holter and ECG Changes After Transcatheter Closure Of ASD In Children Recruiting NCT05540769
45 Evaluation of Safety and Efficacy of the Absnow Absorbable ASD Closure System For Treating ASD Patients Recruiting NCT03601039
46 The Philips (VeriSight) Intracardiac Echocardiography (ICE) Registry Recruiting NCT04950192
47 Amplatzer™ Trevisio™ Delivery System Post-Approval Study Recruiting NCT04433520
48 Radiation-Free Heart Catheterization Using MRI Active, not recruiting NCT02739087
49 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
50 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure - Evaluation of Morphologic and Functional Changes in a Randomized Setting Active, not recruiting NCT03024268

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 28

Anatomical Context for Atrial Heart Septal Defect

Organs/tissues related to Atrial Heart Septal Defect:

FMA: In The Septum
MalaCards : Heart, Lung, Endothelial, Brain, Atrioventricular Node, Liver, Spinal Cord

Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 11466)
# Title Authors PMID Year
GATA4 mutations in Chinese patients with congenital cardiac septal defects. 53 62
19915893 2010
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. 53 62
19962485 2009
[Mutation of NKX2-5 gene in patients with atrial septal defect]. 53 62
20021795 2009
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. 53 62
19678963 2009
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. 53 62
19049681 2009
A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly. 53 62
18706711 2008
Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect. 53 62
18305343 2007
Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. 53 62
17530321 2007
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. 53 62
17184575 2007
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications. 53 62
17255809 2007
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? 53 62
16896344 2006
The Kruppel-like transcription factor KLF13 is a novel regulator of heart development. 53 62
17053787 2006
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 53 62
15810002 2005
Mutation in myosin heavy chain 6 causes atrial septal defect. 53 62
15735645 2005
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. 53 62
15689439 2005
The natriuretic peptides and their role in disorders of right heart dysfunction and pulmonary hypertension. 53 62
15369714 2004
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 53 62
15235040 2004
Interaction makes the heart grow stronger. 53 62
14557051 2003
Developmental paradigms in heart disease: insights from tinman. 53 62
12173684 2002
Quantitative evaluation of the changes in plasma concentrations of cardiac natriuretic peptide before and after transcatheter closure of atrial septal defect. 53 62
12162595 2002
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. 53 62
11073884 2000
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 53 62
10587520 1999
Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. 53 62
10474162 1999
Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. 53 62
10373308 1999
Secretion patterns of brain natriuretic peptide and atrial natriuretic peptide in patients with or without pulmonary hypertension complicating atrial septal defect. 53 62
9704693 1998
Plasma brain natriuretic peptide levels increase in proportion to the extent of right ventricular dysfunction in pulmonary hypertension. 53 62
9426041 1998
Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. 62
36356662 2023
Bilateral branch pulmonary arterial reconstruction in the Alagille syndrome: The technique and its pitfalls. 62
36458898 2022
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
Hypogenetic right lung with partial anomalous pulmonary venous return (PAPVR) and accessory diaphragm: a case of "Scimitar Lung". 62
36472398 2022
Predictors of pulmonary hypertension among children with atrial septal defects (ASD). 62
34813403 2022
First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome. 62
35250252 2022
Eisenmenger Syndrome Among Children with Unrepaired Congenital Heart Defects in Yunnan, China. 62
35522268 2022
Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series. 62
32674186 2022
Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study. 62
36242740 2022
Traumatic atrial septal defect diagnosed by bedside point-of-care ultrasound. 62
36193272 2022
A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2. 62
35778654 2022
Adults with small, unrepaired atrial septal defects have reduced cardiac index during exercise. 62
36468329 2022
Fate of iatrogenic atrial septal defects following mitral transcatheter edge-to-edge repair - a subanalysis of the MITHRAS trial. 62
36371488 2022
Proprotein Convertase Subtilisin/Kexin 6 in Cardiovascular Biology and Disease. 62
36362216 2022
MeVisLab-OpenVR prototyping platform for virtual reality medical applications. 62
35674999 2022
Uncommon variant of total anomalous pulmonary venous drainage in an infant with sudden death: a case report and review of the literature. 62
36401781 2022
A novel algorithm for classification of interatrial communications within the oval fossa in the newborn. 62
36408693 2022
Haemodynamic left-ventricular changes during dobutamine stress in patients with atrial septal defect assessed with magnetic resonance imaging-based pressure-volume loops. 62
35838181 2022
Novel technique for transcatheter closure of sinus venosus atrial septal defect: The temporary suture-holding technique. 62
36183408 2022
Cosmetic and shoulder functional outcomes in posterolateral minithoracotomy atrial septal defect closure: A retrospective study. 62
36335627 2022
Giant Right Coronary Artery Pseudoaneurysm Exclusion With Atrial Septal Defect Closure Device Following Coronary Rupture. 62
36423987 2022
Transcatheter versus surgical closure of atrial septal defect in adult patients with tricuspid regurgitation. 62
35906027 2022
Atrial septal defect with a rare occupying lesion in heart. 62
36371149 2022
Survival of patients with congenital ventricular septal defect. 62
36418929 2022

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

5 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMD NM_004006.3(DMD):c.93+1G>C SNV Pathogenic
523470 rs886042604 GRCh37: X:33038255-33038255
GRCh38: X:33020138-33020138
2 overlap with 39 genes DEL Pathogenic
1684661 GRCh37:
GRCh38: 16:29640592-30187862
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 DIPK1A, RPL5 NM_000969.5(RPL5):c.74-1G>C SNV Pathogenic
523383 rs1553284997 GRCh37: 1:93299101-93299101
GRCh38: 1:92833544-92833544
5 SMARCA4 NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) SNV Likely Pathogenic
816865 rs1085307769 GRCh37: 19:11134234-11134234
GRCh38: 19:11023558-11023558
6 TBX5 NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) SNV Likely Pathogenic
626359 rs1565941579 GRCh37: 12:114837427-114837427
GRCh38: 12:114399622-114399622
7 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) SNV Likely Pathogenic
35609 rs141322087 GRCh37: 11:17426099-17426099
GRCh38: 11:17404552-17404552
8 ABCC8 NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) SNV Likely Pathogenic
523361 rs1344172059 GRCh37: 11:17452385-17452385
GRCh38: 11:17430838-17430838
9 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) SNV Likely Pathogenic
523522 rs367557471 GRCh37: 8:61734614-61734614
GRCh38: 8:60822055-60822055
10 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) SNV Likely Pathogenic
523513 rs1555706928 GRCh37: 18:42531919-42531919
GRCh38: 18:44951954-44951954
11 CREBBP NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) SNV Likely Pathogenic
598959 rs1567263168 GRCh37: 16:3779445-3779445
GRCh38: 16:3729444-3729444
12 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) SNV Likely Pathogenic
523523 rs1556009247 GRCh37: X:71710823-71710823
GRCh38: X:72490973-72490973
13 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) SNV Likely Pathogenic
549661 rs868064163 GRCh37: 3:179304340-179304340
GRCh38: 3:179586552-179586552
14 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-58TG[21] MICROSAT Conflicting Interpretations Of Pathogenicity
315708 rs59431308 GRCh37: 15:35083509-35083512
GRCh38: 15:34791308-34791311
15 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-58TG[17] MICROSAT Uncertain Significance
315709 rs59431308 GRCh37: 15:35083509-35083520
GRCh38: 15:34791308-34791319
16 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-58TG[22] MICROSAT Uncertain Significance
315707 rs59431308 GRCh37: 15:35083509-35083510
GRCh38: 15:34791308-34791309
17 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-58TG[25] MICROSAT Uncertain Significance
315710 rs59431308 GRCh37: 15:35083508-35083509
GRCh38: 15:34791307-34791308
18 COL5A2 NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile) SNV Uncertain Significance
598958 rs1559085751 GRCh37: 2:189927925-189927925
GRCh38: 2:189063199-189063199
19 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.-36C>G SNV Uncertain Significance
315713 rs886051091 GRCh37: 15:35087720-35087720
GRCh38: 15:34795519-34795519
20 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-58TG[24] MICROSAT Uncertain Significance
315705 rs59431308 GRCh37: 15:35083508-35083509
GRCh38: 15:34791307-34791308
21 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.-55C>A SNV Uncertain Significance
315715 rs886051093 GRCh37: 15:35087739-35087739
GRCh38: 15:34795538-34795538
22 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.-55CCG[3] MICROSAT Uncertain Significance
315714 rs886051092 GRCh37: 15:35087733-35087734
GRCh38: 15:34795532-34795533
23 ERF NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) SNV Uncertain Significance
599007 rs764412749 GRCh37: 19:42752628-42752628
GRCh38: 19:42248476-42248476
24 GATA4 NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) SNV Uncertain Significance
599008 rs773545065 GRCh37: 8:11565915-11565915
GRCh38: 8:11708406-11708406
25 LOC114827851, MYH6 NM_002471.4(MYH6):c.212T>C (p.Val71Ala) SNV Uncertain Significance
312883 rs769686237 GRCh37: 14:23874969-23874969
GRCh38: 14:23405760-23405760
26 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) SNV Uncertain Significance
133221 rs193922829 GRCh37: 19:38995701-38995701
GRCh38: 19:38505061-38505061
27 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-12_809-11insGT INSERT Uncertain Significance
315704 rs774238821 GRCh37: 15:35083507-35083508
GRCh38: 15:34791306-34791307
28 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.809-58TG[26] MICROSAT Uncertain Significance
315706 rs59431308 GRCh37: 15:35083508-35083509
GRCh38: 15:34791307-34791308
29 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
30 MN1 NM_002430.3(MN1):c.3839del (p.Cys1280fs) DEL Uncertain Significance
816905 rs1601319594 GRCh37: 22:28147027-28147027
GRCh38: 22:27751039-27751039
31 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) SNV Uncertain Significance
598981 rs749541061 GRCh37: 2:220424193-220424193
GRCh38: 2:219559471-219559471
32 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) SNV Uncertain Significance
598982 rs560246798 GRCh37: 2:220423067-220423067
GRCh38: 2:219558345-219558345
33 SOS1 NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys) SNV Uncertain Significance
180531 rs730880218 GRCh37: 2:39250217-39250217
GRCh38: 2:39023076-39023076
34 MYH6 NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr) SNV Uncertain Significance
312875 rs886050409 GRCh37: 14:23868006-23868006
GRCh38: 14:23398797-23398797
35 MYH6 NM_002471.4(MYH6):c.675C>T (p.Asn225=) SNV Uncertain Significance
312882 rs886050413 GRCh37: 14:23873565-23873565
GRCh38: 14:23404356-23404356
36 HUWE1 NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) SNV Uncertain Significance
523539 rs1556948950 GRCh37: X:53596615-53596615
GRCh38: X:53569655-53569655
37 MYH6 NM_002471.4(MYH6):c.3979-8dup DUP Uncertain Significance
179575 rs193922652 GRCh37: 14:23858271-23858272
GRCh38: 14:23389062-23389063
38 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*422T>A SNV Uncertain Significance
315692 rs886051084 GRCh37: 15:35082191-35082191
GRCh38: 15:34789990-34789990
39 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*284G>A SNV Uncertain Significance
315696 rs886051087 GRCh37: 15:35082329-35082329
GRCh38: 15:34790128-34790128
40 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*1753G>T SNV Uncertain Significance
315652 rs886051064 GRCh37: 15:35080860-35080860
GRCh38: 15:34788659-34788659
41 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*1115A>T SNV Uncertain Significance
315664 rs886051069 GRCh37: 15:35081498-35081498
GRCh38: 15:34789297-34789297
42 MYH6 NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) SNV Uncertain Significance
312860 rs368451573 GRCh37: 14:23859394-23859394
GRCh38: 14:23390185-23390185
43 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.-101G>T SNV Uncertain Significance
315718 rs886051095 GRCh37: 15:35087785-35087785
GRCh38: 15:34795584-34795584
44 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*674C>A SNV Uncertain Significance
315685 rs886051079 GRCh37: 15:35081939-35081939
GRCh38: 15:34789738-34789738
45 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*2168G>T SNV Uncertain Significance
315646 rs886051061 GRCh37: 15:35080445-35080445
GRCh38: 15:34788244-34788244
46 MYH6 NM_002471.4(MYH6):c.3979-8del DEL Uncertain Significance
36628 rs193922652 GRCh37: 14:23858272-23858272
GRCh38: 14:23389063-23389063
47 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*1090A>G SNV Uncertain Significance
315665 rs886051070 GRCh37: 15:35081523-35081523
GRCh38: 15:34789322-34789322
48 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*775C>A SNV Uncertain Significance
315678 rs886051075 GRCh37: 15:35081838-35081838
GRCh38: 15:34789637-34789637
49 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*1797C>A SNV Uncertain Significance
315650 rs886051063 GRCh37: 15:35080816-35080816
GRCh38: 15:34788615-34788615
50 ACTC1, GJD2-DT NM_005159.4(ACTC1):c.*561C>A SNV Uncertain Significance
315689 rs886051083 GRCh37: 15:35082052-35082052
GRCh38: 15:34789851-34789851

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 12)
# Super pathways Score Top Affiliating Genes
Show member pathways
12.56 TBX5 NKX2-5 MYH6 GATA4 DMD
Show member pathways
3 11.81 PRODH NKX2-5 FOXC1
4 11.75 TBX5 SMARCA4 NKX2-5 GATA4
5 11.63 TBX5 NKX2-5 GATA4
Show member pathways
7 11.08 TBX5 TBX20 NKX2-5 MYH6 GATA4
9 10.78 NPPB NKX2-5 GATA4
10 10.69 TBX5 TBX20 NKX2-5 GATA4 FOXC1
11 10.51 TBX5 NKX2-5 GATA4
12 10.15 GATA4 NKX2-5

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 protein-containing complex GO:0032991 9.8 TBX5 SMARCA4 RPL5 NPPB NKX2-5 DMD
2 chromatin GO:0000785 9.58 TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.5 TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
2 positive regulation of DNA-templated transcription GO:0045893 10.28 TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
3 heart looping GO:0001947 10.06 TBX20 NKX2-5 GATA4
4 cardiac muscle contraction GO:0060048 10.01 NKX2-5 MYH6 DMD
5 heart morphogenesis GO:0003007 9.97 NKX2-5 FOXC1 CHD7
6 aortic valve morphogenesis GO:0003180 9.97 TBX20 NKX2-5 GATA4
7 cardiac muscle cell proliferation GO:0060038 9.95 TBX5 NKX2-5 FOXC1
8 endocardial cushion development GO:0003197 9.89 TBX5 GATA4
9 regulation of DNA-templated transcription GO:0006355 9.89 TBX5 TBX20 SMARCA4 SETBP1 NKX2-5 GATA4
10 atrioventricular node development GO:0003162 9.86 GATA4 NKX2-5
11 mesenchymal cell development GO:0014031 9.85 FOXC1 TBX20
12 atrioventricular node cell development GO:0060928 9.83 TBX5 NKX2-5
13 bundle of His development GO:0003166 9.81 TBX5 NKX2-5
14 adult heart development GO:0007512 9.8 NKX2-5 MYH6 CHD7
15 embryonic heart tube development GO:0035050 9.77 TBX20 NKX2-5 FOXC1
16 cardiac muscle cell differentiation GO:0055007 9.76 GATA4 NKX2-5 TBX5
17 cardiac ventricle morphogenesis GO:0003208 9.75 NKX2-5 GATA4
18 atrioventricular node cell fate commitment GO:0060929 9.73 TBX5 NKX2-5
19 atrioventricular canal development GO:0036302 9.73 CHD7 GATA4 TBX20
20 positive regulation of cardioblast differentiation GO:0051891 9.63 TBX5 NKX2-5 GATA4
21 atrial septum morphogenesis GO:0060413 9.23 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 factor binding GO:0140297 9.5 HDAC8 GATA4 FOXC1 CREBBP
2 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.4 TBX5 TBX20 NKX2-5 GATA4 FOXC1 CREBBP

Sources for Atrial Heart Septal Defect

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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