MCID: EBS001
MIFTS: 54

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 57 12 20 36 44 15 39 17 32
Ebstein Anomaly of the Tricuspid Valve 58 29 6
Ebstein's Anomaly 12 20
Ebstein's Anomaly of Common Atrioventricular Valve 12
Ebstein's Anomaly of Right Atrioventricular Valve 12
Ebstein Malformation of the Tricuspid Valve 58
Ebstein's Anomaly of Tricuspid Valve 12
Ebstein's Malformation 20

Characteristics:

Orphanet epidemiological data:

58
ebstein malformation of the tricuspid valve
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®:

57 (Updated 20-May-2021)
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® 57 224700
KEGG 36 H01783
ICD9CM 34 746.2
MeSH 44 D004437
NCIt 50 C84681
SNOMED-CT 67 1796006
ICD10 32 Q22.5
ICD10 via Orphanet 33 Q22.5
UMLS via Orphanet 71 C0013481
Orphanet 58 ORPHA1880
MedGen 41 C0013481
UMLS 70 C0013481

Summaries for Ebstein Anomaly

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Ebstein Anomaly, also known as ebstein anomaly of the tricuspid valve, is related to wolff-parkinson-white syndrome and ventricular septal defect. 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. Affiliated tissues include heart, bone marrow and bone, 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.

GARD : 20 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 239)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 31.4 TBX20 SCN5A NKX2-5 MYH7 MYH6 MYBPC3
2 ventricular septal defect 30.6 ZFPM2 TBX5 NKX2-5 MYH7 GATA4 FLNA
3 cardiomyopathy, dilated, 1e 30.5 TPM1 SCN5A MYH7
4 atrial standstill 30.5 SCN5A GJA5
5 progressive familial heart block, type ia 30.3 SCN5A GJA5
6 first-degree atrioventricular block 30.2 SCN5A MYH7
7 sinoatrial node disease 30.1 TBX5 SCN5A NKX2-5 MYH6 GJA5
8 interatrial communication 30.1 TPM1 TBX5 TBX20 NKX2-5 MYH6 GATA4
9 atrial fibrillation 30.1 TBX5 SCN5A MYH7 MYBPC3 GJA5
10 endocardial fibroelastosis 30.1 MYH7 LDB3 DTNA
11 pulmonary valve stenosis 30.1 TBX5 TBX20 SCN5A NKX2-5 GATA4
12 mitral valve insufficiency 30.1 TBX5 MYH7 MYH6 MYBPC3
13 tricuspid atresia 30.0 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 GATA4
14 cardiac conduction defect 30.0 SCN5A MYH7 MYH6 MYBPC3
15 heart septal defect 30.0 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
16 diaphragmatic hernia, congenital 30.0 ZFPM2 TBX5 GATA4 CDK8
17 arrhythmogenic right ventricular cardiomyopathy 30.0 SCN5A MYH7 MYH6 LDB3
18 sick sinus syndrome 30.0 SCN5A MYH6 GJA5
19 cardiac arrest 30.0 SCN5A MYH7 MYH6 MYBPC3
20 dextro-looped transposition of the great arteries 30.0 TBX5 TBX1 NKX2-5 GATA4
21 atrial standstill 1 29.9 TPM1 SCN5A MYH7 MYH6 MYBPC3 GJA5
22 atrioventricular block 29.9 TBX5 SCN5A NKX2-5 MYH7 GJA5 GATA4
23 third-degree atrioventricular block 29.8 SCN5A GJA5
24 ventricular fibrillation, paroxysmal familial, 1 29.8 SCN5A NKX2-5
25 patent ductus arteriosus 1 29.8 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
26 myopathy 29.8 TPM1 MYH7 MYH6 MYBPC3 LDB3 DTNA
27 long qt syndrome 29.7 SCN5A MYH7 MYH6 MYBPC3 LDB3
28 tricuspid valve disease 29.7 TBX5 TBX20 NKX2-5 MYH7 MYH6 GATA4
29 cardiomyopathy, familial hypertrophic, 1 29.6 TPM1 SCN5A NKX2-5 MYH7 MYH6 MYBPC3
30 atrial heart septal defect 29.6 ZFPM2 TBX5 TBX20 TBX1 SCN5A NKX2-5
31 double outlet right ventricle 29.5 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
32 aortic valve disease 1 29.5 TBX5 TBX20 TBX1 NKX2-5 MYH6 GATA4
33 patent foramen ovale 29.3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
34 atrioventricular septal defect 29.2 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
35 hypoplastic left heart syndrome 29.2 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MYH6
36 hypertrophic cardiomyopathy 29.1 TPM1 SCN5A NKX2-5 MYH7 MYH6 MYBPC3
37 heart disease 29.0 TBX5 TBX20 TBX1 SCN5A NKX2-5 MYH7
38 tetralogy of fallot 28.8 ZFPM2 TPM1 TBX5 TBX20 TBX1 SCN5A
39 left ventricular noncompaction 28.6 TPM1 TBX5 TBX20 SCN5A NKX2-5 MYH7
40 critical congenital heart disease 11.1
41 tricuspid valve insufficiency 10.8
42 cyanosis, transient neonatal 10.5
43 congestive heart failure 10.4
44 pulmonary valve insufficiency 10.4
45 cardiomyopathy, dilated, 1ee 10.3 TPM1 MYH6
46 testicular thecoma 10.3 ZFPM2 GATA4
47 tricuspid valve stenosis 10.3
48 double discordia 10.3
49 myasthenic syndrome, congenital, 20, presynaptic 10.3 NKX2-5 MYH6
50 infective endocarditis 10.3

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 malformation of the heart and great vessels 58 Very frequent (99-80%)
17 abnormality of the endocardium 58 Occasional (29-5%)
18 arrhythmia 58 Frequent (79-30%)
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®:

57 (Updated 20-May-2021)
Cardiac:
atrial septal defect
atrial fibrillation
right bundle branch block
atrial standstill
congenital heart defect
more

Clinical features from OMIM®:

224700 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Ebstein Anomaly according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 GJA5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.68 GJA5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.68 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.68 ACTC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 GJA5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.68 GJA5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.68 MYH7
8 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.68 GJA5 MYH7
9 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.68 MYH7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.68 MYH7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.68 MYH7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.68 MYH7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.68 ACTC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.68 GJA5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.68 GJA5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.68 GJA5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.68 MYH7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.68 GJA5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.68 GJA5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.68 TBX5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.68 TBX5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.68 TBX5

MGI Mouse Phenotypes related to Ebstein Anomaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 ACTC1 CDK8 DTNA FLNA GATA4 GJA5
2 growth/size/body region MP:0005378 10.21 ACTC1 CDK8 DTNA FLNA GATA4 KLHL26
3 homeostasis/metabolism MP:0005376 10.2 ACTC1 CDK8 FLNA GATA4 GJA5 LDB3
4 mortality/aging MP:0010768 10.16 ACTC1 CDK8 DTNA FLNA GATA4 GJA5
5 muscle MP:0005369 10 ACTC1 DTNA GATA4 GJA5 LDB3 MYBPC3
6 digestive/alimentary MP:0005381 9.95 FLNA GATA4 GJA5 LDB3 NKX2-5 SLC19A2
7 normal MP:0002873 9.7 ACTC1 FLNA GATA4 GJA5 MYH7 NKX2-5
8 respiratory system MP:0005388 9.28 FLNA GATA4 GJA5 LDB3 MYH6 NKX2-5

Drugs & Therapeutics for Ebstein Anomaly

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 Active, not recruiting NCT02914171 Phase 1
2 Genes Causing Congenital Ebstein's Anomaly Completed NCT00497705
3 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

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, Bone Marrow, Bone, Myeloid, Liver, Brain, Kidney

Publications for Ebstein Anomaly

Articles related to Ebstein Anomaly:

(show top 50) (show all 422)
# Title Authors PMID Year
1
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. 61 57
21815254 2011
2
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. 6 61
21127202 2011
3
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. 57 61
12746392 2003
4
Ebstein anomaly associated with rearrangements of chromosomal region 11q. 61 57
9805133 1998
5
Ebstein anomaly: report of a familial occurrence and prenatal diagnosis. 57 61
1536167 1992
6
Persistent atrial standstill in familial Ebstein's anomaly. 57
4005080 1985
7
Familial Ebstein's anomaly of the tricuspid valve. 57
5638476 1968
8
Familial Ebstein's anomaly with emphasis on the surgical treatment. 57
5938901 1966
9
EBSTEIN'S ANOMALY IN THE NEONATE. A CLINICAL STUDY OF THREE CASES OBSERVED FROM BIRTH THROUGH INFANCY. 57
14091822 1964
10
[An unusual type of congenital abnormality of the mitral valve]. 57
13707483 1960
11
Neonatal Ebstein anomaly national outcomes from 2000 to 2018 using the National Inpatient Sample. 61
33788426 2021
12
Left Ventricular Global Longitudinal Strain Is Superior to Ejection Fraction for Prognostication in Ebstein Anomaly. 61
33744142 2021
13
Transcatheter tricuspid valve-in-valve replacement in two patients with Ebstein anomaly: technical considerations. 61
33169225 2021
14
Uncommon mitral valve anomalies associated with Ebstein anomaly. 61
33785267 2021
15
Cone reconstruction for Ebstein anomaly: Late biventricular function and possible remodeling. 61
33293067 2021
16
From Safety to Benefit in Cell Delivery During Surgical Repair of Ebstein Anomaly: Initial Results. 61
33539782 2021
17
Hemodynamics and Clinical Implications of Occult Left Ventricular Dysfunction in Adults Undergoing Ebstein Anomaly Repair. 61
33583197 2021
18
Extracardiac Doppler indices predict perinatal mortality in fetuses with Ebstein anomaly and tricuspid valve dysplasia. 61
33242215 2021
19
Effect of In Utero Non-Steroidal Anti-Inflammatory Drug Therapy for Severe Ebstein Anomaly or Tricuspid Valve Dysplasia (NSAID Therapy for Fetal Ebstein anomaly). 61
33217351 2021
20
Balloon Valvuloplasty for Congenital Aortic Stenosis: Experience at a Tertiary Center in a Developing Country. 61
33519306 2021
21
Surgical management of Ebstein anomaly: impact of the adult congenital heart disease anatomical and physiological classifications. 61
33313770 2020
22
Does addition of bi-directional cavo-pulmonary shunt to tricuspid repair in advanced cases of Ebstein anomaly result in better outcomes? 61
32436068 2020
23
Prognostic Role of Hepatorenal Function Indexes in Patients With Ebstein Anomaly. 61
33334426 2020
24
Commentary: Ventricular function improvement after the cone for Ebstein anomaly: It is time to incorporate magnetic resonance studies into every long-term postoperative protocol. 61
33494914 2020
25
Cor triatriatum dexter associated to Ebstein anomaly with tricuspid double lesion and atrial septal defect. 61
33347428 2020
26
Early bioprosthetic tricuspid valve stenosis due to size mismatch in Ebstein anomaly-Successful transcatheter treatment. 61
32789873 2020
27
Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study. 61
33076749 2020
28
Rapid two-stage Starnes approach in high-risk neonates with Ebstein anomaly. 61
32463872 2020
29
The Congenital Tricuspid Valve Spectrum: From Ebstein to Dysplasia. 61
33164686 2020
30
Tricuspid Valve Dysplasia at Fetal Autopsy. 61
33063582 2020
31
Mirror Syndrome with Severe Postpartum Presentation following Stillbirth and Shoulder Dystocia. 61
31559885 2020
32
Diagnosis of Ebstein Anomaly with Atrial Septal Defect and Persistent Left Superior Vena Cava Using Cardiac Magnetic Resonance Imaging. 61
32462825 2020
33
Cone Repair in Adult Patients with Ebstein Anomaly. 61
33020344 2020
34
Haemodynamic determinants of improved aerobic capacity after tricuspid valve surgery in Ebstein anomaly. 61
33122300 2020
35
Surgical management for an adult, female patient, with Ebstein Anomaly on Tricuspid Valve that has Subvalvular membrane with severe PS and multiple VSDs-A case report. 61
33234204 2020
36
Strain and Strain Rate To Evaluate Right Heart Function of Ebstein Anomaly (EA) Patients Before and After Operation. 61
32990582 2020
37
Cardiovascular Risk Factors in Patients With Congenital Heart Disease. 61
32585329 2020
38
Ebstein Anomaly in the Adult Patient. 61
32622490 2020
39
Percutaneous closure of an atrial septal defect in a patient with Ebstein anomaly and right-to-left shunt. 61
32763099 2020
40
How can a 4-liter heart fit in the human chest? Ebstein anomaly diagnosed in adulthood. 61
32483956 2020
41
Ebstein anomaly combined with unique pulmonary venous abnormality in a 9-month-old child. 61
32484126 2020
42
Heart failure in the adult Ebstein patient. 61
32472521 2020
43
Examination of pathologic features of the right atrioventricular groove in hearts with Ebstein anomaly and correlation with arrhythmias. 61
31978592 2020
44
Heart failure with reduced and preserved ejection fraction in adult congenital heart disease. 61
31873841 2020
45
Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication. 61
32487530 2020
46
Right Ventricular Failure and Congenital Heart Disease. 61
32284100 2020
47
Which One Predominates in Ebstein Anomaly: Tricuspid Regurgitation or Right Ventricular Dysfunction? 61
31586622 2020
48
Dynamic Slow-Motion Display in the Diagnosis of Functional Pulmonary Atresia in Fetal Ebstein Anomaly. 61
32337389 2020
49
Fusobacterial brain abscess caused by paradoxical embolization associated with Ebstein's anomaly in an adult patient: A case report. 61
31398389 2020
50
Indian Guidelines for Indications and Timing of Intervention for Common Congenital Heart Diseases: Revised and Updated Consensus Statement of the Working Group on Management of Congenital Heart Diseases. Abridged Secondary Publication. 61
32060242 2020

Variations for Ebstein Anomaly

ClinVar genetic disease variations for Ebstein Anomaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) SNV Pathogenic 631491 rs1565977796 GRCh37: 13:26911760-26911760
GRCh38: 13:26337623-26337623
2 MYH7 NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) Deletion Likely pathogenic 42968 rs397516190 GRCh37: 14:23889120-23889122
GRCh38: 14:23419911-23419913
3 CEP85L and overlap with 1 gene(s) Duplication Uncertain significance 559395 GRCh37: 6:118823423-118880554
GRCh38:

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 TPM1 TBX5 SCN5A NKX2-5 MYH6 MYBPC3
2
Show member pathways
12.35 MYH7 MYH6 FLNA ACTC1
3
Show member pathways
12.3 TPM1 SCN5A MYH7 MYH6 GATA4 ACTC1
4
Show member pathways
12.27 TBX5 NKX2-5 MYH7 GATA4
5
Show member pathways
12.04 TPM1 MYH7 MYH6 MYBPC3 ACTC1
6 11.85 TBX5 NKX2-5 GATA4
7 11.8 MYH7 MYH6 GATA4
8 11.67 TPM1 MYH7 MYH6 ACTC1
9 11.66 TBX5 NKX2-5 GATA4
10 11.56 TPM1 MYH6 MYBPC3 ACTC1
11 11.32 MYH7 MYH6 FLNA ACTC1
12 11.02 TBX5 TBX20 TBX1 NKX2-5 GATA4
13 10.98 NKX2-5 MYH7 GATA4
14 10.89 TBX5 TBX20 SCN5A NKX2-5 MYH6 GATA4
15 10.11 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 stress fiber GO:0001725 9.46 TPM1 MYH7 MYH6 LDB3
3 myosin filament GO:0032982 9.43 MYH7 MYH6 MYBPC3
4 muscle myosin complex GO:0005859 9.37 MYH7 MYH6
5 Z disc GO:0030018 9.35 SCN5A MYH7 MYH6 LDB3 FLNA
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 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 GATA4
2 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 GATA4
3 heart development GO:0007507 9.88 ZFPM2 TBX5 TBX1 NKX2-5 LDB3 GJA5
4 muscle contraction GO:0006936 9.85 TPM1 TBX20 MYH7 MYH6
5 heart looping GO:0001947 9.8 TBX20 NKX2-5 GATA4
6 vasculogenesis GO:0001570 9.8 ZFPM2 TBX20 NKX2-5
7 outflow tract morphogenesis GO:0003151 9.78 TBX20 TBX1 GJA5
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.77 ZFPM2 TBX5 TBX20
9 sarcomere organization GO:0045214 9.77 TPM1 MYH6 LDB3
10 ventricular septum development GO:0003281 9.76 TBX5 GJA5 GATA4
11 heart morphogenesis GO:0003007 9.76 TBX1 NKX2-5 MYBPC3 FLNA
12 cell fate specification GO:0001708 9.75 TBX5 TBX20 TBX1
13 regulation of heart rate GO:0002027 9.74 SCN5A MYH7 MYH6
14 aortic valve morphogenesis GO:0003180 9.73 TBX20 NKX2-5 GATA4
15 cardiac muscle cell differentiation GO:0055007 9.69 TBX5 NKX2-5 GATA4
16 regulation of the force of heart contraction GO:0002026 9.67 MYH7 MYH6
17 actin filament-based movement GO:0030048 9.67 MYH6 ACTC1
18 pharyngeal system development GO:0060037 9.67 TBX1 NKX2-5
19 striated muscle contraction GO:0006941 9.67 MYH7 MYH6 DTNA
20 embryonic heart tube development GO:0035050 9.66 TBX20 NKX2-5
21 positive regulation of sodium ion transport GO:0010765 9.66 SCN5A NKX2-5
22 cardiac right ventricle morphogenesis GO:0003215 9.65 TBX20 GATA4
23 regulation of cardiac muscle cell contraction GO:0086004 9.65 SCN5A GATA4
24 cardiac muscle hypertrophy in response to stress GO:0014898 9.65 MYH7 MYH6
25 adult heart development GO:0007512 9.65 NKX2-5 MYH7 MYH6
26 endocardial cushion development GO:0003197 9.64 TBX5 GATA4
27 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.64 SCN5A GJA5
28 atrial septum development GO:0003283 9.63 TBX5 GJA5
29 outflow tract septum morphogenesis GO:0003148 9.62 ZFPM2 TBX20 TBX1 NKX2-5
30 cardiac muscle tissue morphogenesis GO:0055008 9.61 TBX20 NKX2-5 ACTC1
31 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 TPM1 MYH7 MYH6 MYBPC3
32 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.54 ZFPM2 NKX2-5
33 positive regulation of cardioblast differentiation GO:0051891 9.54 TBX5 NKX2-5 GATA4
34 pulmonary valve formation GO:0003193 9.52 TBX20 GJA5
35 atrial septum morphogenesis GO:0060413 9.46 TBX5 TBX20 NKX2-5 GATA4
36 muscle filament sliding GO:0030049 9.35 TPM1 MYH7 MYH6 MYBPC3 ACTC1
37 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 actin filament binding GO:0051015 9.56 TPM1 MYH7 MYH6 FLNA
2 transcription factor binding GO:0008134 9.35 ZFPM2 TBX5 NKX2-5 GATA4 FLNA
3 RNA polymerase II transcription factor binding GO:0001085 9.33 ZFPM2 TBX20 GATA4
4 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.32 NKX2-5 GATA4
5 actin binding GO:0003779 9.1 TPM1 MYH7 MYH6 MYBPC3 LDB3 FLNA

Sources for Ebstein Anomaly

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
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