MCID: EBS001
MIFTS: 55

Ebstein Anomaly

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ebstein Anomaly

MalaCards integrated aliases for Ebstein Anomaly:

Name: Ebstein Anomaly 56 12 52 36 43 15 39 17 32
Ebstein Anomaly of the Tricuspid Valve 58 29 6
Ebstein's Anomaly 12 52
Ebstein's Anomaly of Common Atrioventricular Valve 12
Ebstein's Anomaly of Right Atrioventricular Valve 12
Ebstein's Anomaly of Tricuspid Valve 12
Ebstein's Malformation 52
Ebstein Malformation 58

Characteristics:

Orphanet epidemiological data:

58
ebstein malformation
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-5/10000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-9/100000 (Poland),1-9/1000000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine),1-9/100000 (Norway); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ebstein anomaly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14289
OMIM 56 224700
KEGG 36 H01783
ICD9CM 34 746.2
MeSH 43 D004437
NCIt 49 C84681
SNOMED-CT 67 1796006
ICD10 32 Q22.5
ICD10 via Orphanet 33 Q22.5
UMLS via Orphanet 72 C0013481
Orphanet 58 ORPHA1880
MedGen 41 C0013481
UMLS 71 C0013481

Summaries for Ebstein Anomaly

OMIM : 56 Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011). (224700)

MalaCards based summary : Ebstein Anomaly, also known as ebstein anomaly of the tricuspid valve, is related to wolff-parkinson-white syndrome and cardiomyopathy, dilated, 1e. An important gene associated with Ebstein Anomaly is CDK8 (Cyclin Dependent Kinase 8), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drug Respiratory System Agents has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are respiratory insufficiency and fatigue

Disease Ontology : 12 A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.

NIH Rare Diseases : 52 Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery.

KEGG : 36 Ebstein anomaly is a rare congenital heart abnormality, characterized by downward displacement of the tricuspid valve into the right ventricle. Displacement and malformation of the tricuspid valve is accompanied by an enlarged right atrium and a dilated, thinned right ventricle. Ebstein anomaly can occur as a sporadic or a familial defect. It has been reported that deletion 1p36 and deletion 8p23.1 are the most frequent chromosomal structural changes associated with Ebstein anomaly.

Related Diseases for Ebstein Anomaly

Diseases related to Ebstein Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 31.8 TBX5 TBX20 SCN5A NPPB NKX2-5 MYH7
2 cardiomyopathy, dilated, 1e 30.7 TPM1 SCN5A MYH7
3 congestive heart failure 30.6 SCN5A NPPB MYH7 MYH6 GATA4
4 eisenmenger syndrome 30.5 NKX2-5 GATA4
5 sinoatrial node disease 30.5 TBX5 SCN5A NKX2-5 MYH6
6 orthostatic intolerance 30.5 TBX5 TBX20 FLNA
7 atrial fibrillation 30.4 TBX5 SCN5A NPPB MYH7 MYBPC3
8 pulmonary valve stenosis 30.4 TBX5 SCN5A NKX2-5 GATA4
9 dextrocardia 30.4 ZIC3 MYH7 ACTC1
10 first-degree atrioventricular block 30.3 SCN5A MYH7
11 progressive familial heart block, type ia 30.3 SCN5A MYH7 MYBPC3
12 cardiac conduction defect 30.3 SCN5A MYH7 MYBPC3
13 left bundle branch hemiblock 30.3 SCN5A NPPB MYBPC3
14 diaphragmatic hernia, congenital 30.3 ZFPM2 GATA4 CDK8
15 ventricular fibrillation, paroxysmal familial, 1 30.1 SCN5A NKX2-5
16 long qt syndrome 30.1 SCN5A MYH7 MYH6 MYBPC3
17 arrhythmogenic right ventricular cardiomyopathy 30.1 SCN5A NPPB MYH7 MYH6
18 atrioventricular block 30.1 TBX5 SCN5A NPPB NKX2-5 MYH7 GATA4
19 dextro-looped transposition of the great arteries 30.1 ZIC3 TBX5 NPPB NKX2-5 GATA4
20 tricuspid atresia 30.0 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 GATA4
21 mitral valve insufficiency 30.0 TBX5 NPPB MYH7 MYH6 MYBPC3
22 third-degree atrioventricular block 30.0 SCN5A NPPB
23 heart septal defect 30.0 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 MYH7
24 double outlet right ventricle 29.9 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 GATA4
25 hypertrophic cardiomyopathy 29.9 TPM1 SCN5A MYH7 MYH6 MYBPC3 ACTC1
26 cardiac arrest 29.9 SCN5A NPPB MYH7 MYH6 MYBPC3
27 tricuspid valve disease 29.9 ZIC3 TBX5 NPPB NKX2-5 MYH7 MYH6
28 patent foramen ovale 29.8 ZNF534 TBX5 TBX20 NPPB NKX2-5 MYH6
29 ventricular septal defect 29.8 ZIC3 ZFPM2 TBX5 TBX20 NPPB NKX2-5
30 aortic valve disease 1 29.7 TBX5 TBX20 NKX2-5 MYH7 MYH6 MYBPC3
31 atrial standstill 1 29.5 SCN5A NPPB MYH7 MYH6 MYBPC3 GATA4
32 patent ductus arteriosus 1 29.5 ZIC3 TBX5 TBX20 NPPB NKX2-5 MYH6
33 hypoplastic left heart syndrome 29.4 ZIC3 TBX5 TBX20 NPPB NKX2-5 MYH7
34 atrioventricular septal defect 29.4 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 MYH6
35 atrial heart septal defect 29.3 ZIC3 ZFPM2 TBX5 TBX20 SCN5A NPPB
36 left ventricular noncompaction 29.1 TPM1 TBX5 TBX20 SCN5A NKX2-5 MYH7
37 tetralogy of fallot 28.5 ZIC3 ZFPM2 TPM1 TBX5 TBX20 SCN5A
38 heart disease 28.3 ZIC3 TBX5 TBX20 SCN5A NPPB NKX2-5
39 critical congenital heart disease 11.3
40 tricuspid valve insufficiency 10.8
41 congenital tricuspid malformation 10.6
42 progressive familial heart block, type ib 10.5
43 right bundle branch block 10.5
44 cyanosis, transient neonatal 10.5
45 cardiomyopathy, dilated, 1ee 10.5 TPM1 MYH6
46 congenital structural myopathy 10.4 TPM1 MYH7 MYH6
47 familial sick sinus syndrome 10.4 SCN5A MYH6
48 testicular thecoma 10.4 ZFPM2 GATA4
49 heart, malformation of 10.4 TBX5 NKX2-5 MYH6
50 46,xy partial gonadal dysgenesis 10.4 ZFPM2 GATA4

Graphical network of the top 20 diseases related to Ebstein Anomaly:



Diseases related to Ebstein Anomaly

Symptoms & Phenotypes for Ebstein Anomaly

Human phenotypes related to Ebstein Anomaly:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
4 premature birth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001622
5 ebstein anomaly of the tricuspid valve 58 31 hallmark (90%) Very frequent (99-80%) HP:0010316
6 imperforate tricuspid valve 58 31 hallmark (90%) Very frequent (99-80%) HP:0011575
7 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
8 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
9 atrial fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0005110
10 right bundle branch block 58 31 frequent (33%) Frequent (79-30%) HP:0011712
11 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
12 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
13 cerebral ischemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002637
14 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
15 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306
16 arrhythmia 58 Frequent (79-30%)
17 malformation of the heart and great vessels 58 Very frequent (99-80%)
18 abnormality of the endocardium 58 Occasional (29-5%)
19 abnormal cardiac septum morphology 58 Frequent (79-30%)
20 ventricular preexcitation 31 HP:0004309
21 atrial standstill 31 HP:0025478

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
atrial septal defect
atrial fibrillation
right bundle branch block
atrial standstill
congenital heart defect
more

Clinical features from OMIM:

224700

MGI Mouse Phenotypes related to Ebstein Anomaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ACTC1 CDK8 DTNA FLNA GATA4 MYBPC3
2 mortality/aging MP:0010768 10 ACTC1 CDK8 DTNA FLNA GATA4 MYH6
3 muscle MP:0005369 9.7 ACTC1 DTNA GATA4 MYBPC3 MYH6 MYH7
4 normal MP:0002873 9.36 ACTC1 FLNA GATA4 MYH7 NKX2-5 RBM41

Drugs & Therapeutics for Ebstein Anomaly

Drugs for Ebstein Anomaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Respiratory System Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I Safety and Feasibility Study of Intramyocardial Delivery of Autologous Bone Marrow Derived Mononuclear Cells to Right Ventricle of Patients With Ebstein Anomaly During Cardiac Surgery Recruiting NCT02914171 Phase 1
2 Segmentation, Structural Reconstruction and Quantification of Right Ventricular Remodeling in Congenital Heart Disease for Clinical Decision-making and Treatment Planning. Unknown status NCT02791061
3 Genes Causing Congenital Ebstein's Anomaly Completed NCT00497705
4 Left Ventricular Function in Ebstein Anomaly: Assessment by 3D Echocardiography and Speckle Tracking. Assessment and Validation of the Right Ventricle by VentriPoint Method. Completed NCT01907971
5 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
6 Congenital Heart Disease (CHD): Hemodynamic Effects of Acute Maternal Hyperoxygenation in the Fetus Recruiting NCT03944837
7 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689

Search NIH Clinical Center for Ebstein Anomaly

Cochrane evidence based reviews: ebstein anomaly

Genetic Tests for Ebstein Anomaly

Genetic tests related to Ebstein Anomaly:

# Genetic test Affiliating Genes
1 Ebstein Anomaly of the Tricuspid Valve 29

Anatomical Context for Ebstein Anomaly

MalaCards organs/tissues related to Ebstein Anomaly:

40
Heart, Lung, Liver, Testes, Bone, Brain, Kidney

Publications for Ebstein Anomaly

Articles related to Ebstein Anomaly:

(show top 50) (show all 385)
# Title Authors PMID Year
1
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. 56 61
21815254 2011
2
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. 56 61
12746392 2003
3
Ebstein anomaly associated with rearrangements of chromosomal region 11q. 56 61
9805133 1998
4
Ebstein anomaly: report of a familial occurrence and prenatal diagnosis. 61 56
1536167 1992
5
Persistent atrial standstill in familial Ebstein's anomaly. 56
4005080 1985
6
Familial Ebstein's anomaly of the tricuspid valve. 56
5638476 1968
7
Familial Ebstein's anomaly with emphasis on the surgical treatment. 56
5938901 1966
8
EBSTEIN'S ANOMALY IN THE NEONATE. A CLINICAL STUDY OF THREE CASES OBSERVED FROM BIRTH THROUGH INFANCY. 56
14091822 1964
9
[An unusual type of congenital abnormality of the mitral valve]. 56
13707483 1960
10
Arrhythmias in Adults With Congenital Heart Disease: What the Practicing Cardiologist Needs to Know. 61
31703824 2019
11
Severity Scores for Ebstein Anomaly: Credibility and Usefulness of Echocardiographic vs Magnetic Resonance Assessments of the Celermajer Index. 61
31711824 2019
12
Right Ventricular Diastolic Function and Right Atrial Function and Their Relation With Exercise Capacity in Ebstein Anomaly. 61
31564390 2019
13
Denoising and artefact removal for transthoracic echocardiographic imaging in congenital heart disease: utility of diagnosis specific deep learning algorithms. 61
31325067 2019
14
Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals. 61
30980206 2019
15
Cone reconstruction is feasible in babies under 2 kg of weight. 61
31161220 2019
16
Cone Type Repair Has Become Our First Option in the Treatment of Adult Ebstein Anomaly. 61
31308306 2019
17
Which one predominates in Ebstein anomaly: tricuspid regurgitation or right ventricular dysfunction? 61
31586622 2019
18
Echocardiographic and pathomorphological features in fetuses with ductal-dependent congenital heart diseases. 61
31389092 2019
19
Modified underlying cardiac disease severity in twin-twin transfusion syndrome. 61
31516298 2019
20
Mirror Syndrome with Severe Postpartum Presentation following Stillbirth and Shoulder Dystocia. 61
31559885 2019
21
Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results. 61
31446820 2019
22
Fusobacterial brain abscess caused by paradoxical embolization associated with Ebstein's anomaly in an adult patient: A case report. 61
31398389 2019
23
A Young Woman With Recurrent Palpitations: A Case of Ebstein Anomaly With Mahaim Fiber Tachycardia. 61
31468016 2019
24
Contemporary outcomes and mortality risks of Ebstein anomaly: A single-center experience in Thailand. 61
30791188 2019
25
Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011. 61
31159903 2019
26
Quality of life in young patients after cone reconstruction for Ebstein anomaly. 61
31198119 2019
27
[Prenatal and postnatal ultrasound assessment and clinical prognostic analysis for Ebstein anomaly]. 61
31216805 2019
28
A simple measure of the extent of Ebstein valve rotation with cardiovascular magnetic resonance gives a practical guide to feasibility of surgical cone reconstruction. 61
31242903 2019
29
Incessant Repetitive Wide QRS Tachycardia in a Young Woman With Ebstein Anomaly. 61
31059315 2019
30
Cardiopulmonary Exercise Testing-A Valuable Tool, Not Gatekeeper When Referring Patients With Adult Congenital Heart Disease for Transplant Evaluation. 61
30832541 2019
31
Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. 61
30773818 2019
32
Exercise Capacity After Repair of Ebstein Anomaly in Adults. 61
30701277 2019
33
Tricuspid Valve Imaging and Intervention in Pediatric and Adult Patients With Congenital Heart Disease. 61
30947906 2019
34
Fetal echocardiographic prediction score for perinatal mortality of tricuspid valve malformation and Ebstein anomaly. 61
31008542 2019
35
The first known use of the double-orifice valve technique for Ebstein anomaly, performed 30 years ago. 61
30501949 2019
36
Reconstructive surgery for Ebstein anomaly: three decades of experience. 61
30726890 2019
37
An Adolescent with Left Ventricular Noncompaction and Ebstein Anomaly Presenting with Advanced Heart Failure: Discharge from Hospital with a Biventricular Assist Device. 61
30217690 2018
38
Surgical Management and Outcomes of Ebstein Anomaly in Neonates and Infants: A Society of Thoracic Surgeons Congenital Heart Surgery Database Analysis. 61
29777671 2018
39
Live-Born Major Congenital Heart Disease in Denmark: Incidence, Detection Rate, and Termination of Pregnancy Rate From 1996 to 2013. 61
30027209 2018
40
Successful pregnancy in a patient with Ebstein's anomaly; a case report from a developing country. 61
30317272 2018
41
Characteristics and Outcomes of Pediatric Patients Who Undergo Placement of Implantable Cardioverter Defibrillators. 61
30354291 2018
42
Diastolic paradoxical septal motion in Ebstein anomaly. 61
30088492 2018
43
Editorial commentary: The caveats of cardiac imaging in Ebstein anomaly. 61
29661708 2018
44
Cardiac imaging in Ebstein anomaly. 61
29409687 2018
45
Cavotricuspid isthmus ablation using multimodality imaging in Ebstein anomaly with a mechanical tricuspid valve replacement. 61
30116707 2018
46
Fetal and Postnatal Echocardiographic Diagnosis of Ebstein Anomaly of the Mitral Valve. 61
29756160 2018
47
Ventricular arrhythmias and sudden death in patients with Ebstein anomaly: insights from a retrospective cohort study. 61
30123552 2018
48
Wide QRS complex supraventricular tachycardia with negative precordial concordance: Electrocardiographic clues for Mahaim pathway with Ebstein anomaly. 61
29997008 2018
49
Right Heart-Pulmonary Circulation Unit in Congenital Heart Diseases. 61
29966627 2018
50
Anatomy of the ventricular septal defect in congenital heart defects: a random association? 61
30021599 2018

Variations for Ebstein Anomaly

ClinVar genetic disease variations for Ebstein Anomaly:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)SNV Pathogenic 631491 rs1565977796 13:26911760-26911760 13:26337623-26337623
2 MYH7 NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)deletion Likely pathogenic 42968 rs397516190 14:23889120-23889122 14:23419911-23419913
3 CEP85L , PLN duplication Uncertain significance 559395 6:118823423-118880554
4 46;XY;t(18;20)(q21.1;p11.23)dnTranslocation Uncertain significance 268042

Expression for Ebstein Anomaly

Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for Ebstein Anomaly

Pathways related to Ebstein Anomaly according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 TPM1 TBX5 SCN5A NKX2-5 MYH6 MYBPC3
2
Show member pathways
12.37 MYH7 MYH6 FLNA ACTC1
3
Show member pathways
12.32 TBX5 NPPB NKX2-5 MYH7 GATA4
4
Show member pathways
12.2 TPM1 SCN5A NPPB MYH7 MYH6 GATA4
5
Show member pathways
12.07 TPM1 MYH7 MYH6 MYBPC3 ACTC1
6 11.78 MYH7 MYH6 GATA4
7 11.69 TPM1 MYH7 MYH6 ACTC1
8 11.59 TPM1 MYH6 MYBPC3 ACTC1
9 11.34 MYH7 MYH6 FLNA ACTC1
10 11.29 TBX5 TBX20 NKX2-5 GATA4
11 10.89 TBX5 TBX20 SCN5A NKX2-5 MYH6 GATA4
12 10.6 NPPB NKX2-5 MYH7 GATA4
13 10.21 NKX2-5 GATA4 ACTC1

GO Terms for Ebstein Anomaly

Cellular components related to Ebstein Anomaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.5 TPM1 FLNA ACTC1
2 Z disc GO:0030018 9.46 SCN5A MYH7 MYH6 FLNA
3 stress fiber GO:0001725 9.43 TPM1 MYH7 MYH6
4 muscle myosin complex GO:0005859 9.37 MYH7 MYH6
5 myosin filament GO:0032982 9.13 MYH7 MYH6 MYBPC3
6 sarcomere GO:0030017 9.02 TPM1 MYH7 MYH6 MYBPC3 ACTC1

Biological processes related to Ebstein Anomaly according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 GATA4
2 positive regulation of transcription, DNA-templated GO:0045893 10.06 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 GATA4
3 muscle contraction GO:0006936 9.84 TPM1 TBX20 MYH7 MYH6
4 lung development GO:0030324 9.81 ZIC3 ZFPM2 TBX5
5 vasculogenesis GO:0001570 9.77 ZFPM2 TBX20 NKX2-5
6 sarcomere organization GO:0045214 9.75 TPM1 NKX2-5 MYH6
7 positive regulation of cardiac muscle cell proliferation GO:0060045 9.74 ZFPM2 TBX5 TBX20
8 regulation of heart rate GO:0002027 9.73 SCN5A MYH7 MYH6
9 heart looping GO:0001947 9.73 ZIC3 TBX20 NKX2-5 GATA4
10 outflow tract septum morphogenesis GO:0003148 9.7 ZFPM2 TBX20 NKX2-5
11 cardiac muscle cell differentiation GO:0055007 9.67 TBX5 NKX2-5 GATA4
12 actin filament-based movement GO:0030048 9.65 MYH6 ACTC1
13 embryonic heart tube development GO:0035050 9.65 TBX20 NKX2-5
14 regulation of the force of heart contraction GO:0002026 9.65 MYH7 MYH6
15 cardiac muscle tissue development GO:0048738 9.65 ZFPM2 NKX2-5 GATA4
16 positive regulation of sodium ion transport GO:0010765 9.64 SCN5A NKX2-5
17 heart contraction GO:0060047 9.64 NKX2-5 ACTC1
18 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 MYH7 MYH6
19 striated muscle contraction GO:0006941 9.63 MYH7 MYH6 DTNA
20 cardiac right ventricle morphogenesis GO:0003215 9.62 TBX20 GATA4
21 regulation of cardiac muscle cell contraction GO:0086004 9.62 SCN5A GATA4
22 endocardial cushion development GO:0003197 9.61 TBX5 GATA4
23 cardiac ventricle morphogenesis GO:0003208 9.61 NKX2-5 GATA4
24 cardiac muscle tissue morphogenesis GO:0055008 9.58 TBX20 NKX2-5 ACTC1
25 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 TPM1 MYH7 MYH6 MYBPC3
26 bundle of His development GO:0003166 9.55 TBX5 NKX2-5
27 adult heart development GO:0007512 9.54 NKX2-5 MYH7 MYH6
28 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.51 ZFPM2 NKX2-5
29 positive regulation of cardioblast differentiation GO:0051891 9.5 TBX5 NKX2-5 GATA4
30 atrial septum morphogenesis GO:0060413 9.46 TBX5 TBX20 NKX2-5 GATA4
31 muscle filament sliding GO:0030049 9.35 TPM1 MYH7 MYH6 MYBPC3 ACTC1
32 cardiac muscle contraction GO:0060048 9.17 TPM1 SCN5A NKX2-5 MYH7 MYH6 MYBPC3

Molecular functions related to Ebstein Anomaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 ZIC3 ZFPM2 TBX5 TBX20 NKX2-5 GATA4
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.78 ZIC3 TBX5 TBX20 GATA4
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 ZIC3 TBX5 TBX20 NKX2-5 GATA4
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 ZIC3 TBX5 TBX20 NKX2-5 GATA4
5 microfilament motor activity GO:0000146 9.46 MYH7 MYH6
6 actin filament binding GO:0051015 9.46 TPM1 MYH7 MYH6 FLNA
7 RNA polymerase II transcription factor binding GO:0001085 9.43 ZFPM2 TBX20 GATA4
8 actin-dependent ATPase activity GO:0030898 9.4 MYH7 MYH6
9 transcription factor binding GO:0008134 9.35 ZFPM2 TBX5 NKX2-5 GATA4 FLNA
10 actin binding GO:0003779 9.02 TPM1 MYH7 MYH6 MYBPC3 FLNA

Sources for Ebstein Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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