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Gene: Tbx20 MGI:1888496

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Gene Summary

Name:
T-box 20
Synonyms:
Tbx12,  9430010M06Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal somite shape Tbx20em1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Tbx20em1(IMPC)Mbp HOM   Early adult 0.00
abnormal pharyngeal arch morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Tbx20em1(IMPC)Mbp HET Early adult 0.00
abnormal heart looping Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Tbx20em1(IMPC)Mbp HET E15.5 0.00
abnormal otic vesicle morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
increased neutrophil cell number Tbx20em1(IMPC)Mbp HET Early adult 5.41×10-06
prenatal lethality prior to heart atrial septation Tbx20em1(IMPC)Mbp HOM   E15.5 0.00
abnormal visceral yolk sac morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal blood vessel morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
small heart Tbx20em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube closure Tbx20em1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

86 Images

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X-ray

XRay Images Whole Body Lateral Orientation

42 Images

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Human diseases caused by Tbx20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tbx20 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363

The table below shows human diseases predicted to be associated to Tbx20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611615
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ... OMIM:613255
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 28
Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e... OMIM:619402
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia ORPHA:154
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ... OMIM:613854
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Cardiomyopathy, Left ventricular hypertrophy OMIM:611556
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E... OMIM:611878
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en... OMIM:619424
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy ORPHA:206546
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial... OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy OMIM:608099
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function OMIM:616827
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Congenital Heart Defects, Multiple Types, 9
Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, Single ventricle of i... OMIM:620294
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Interstitial cardiac ... OMIM:181350
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:602390
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy ORPHA:206559
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... OMIM:611705
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Myopathy, Distal, 1
Left atrial enlargement, Dilated cardiomyopathy OMIM:160500
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Partial anomalous pulmonary venous return, Dextrocardia, Patent foramen o... OMIM:619702
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Scimitar Syndrome
Tricuspid atresia, Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocar... ORPHA:185
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Atrial septal defect, Prolonged QT interval, Noncompaction cardiomyopat... OMIM:610198
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... OMIM:620152
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:252011
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitatio... ORPHA:75249
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Mitral regurgitation OMIM:615959
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Dk1-Cdg
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... ORPHA:91131
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Heterotaxy, Visceral, 1, X-Linked
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Patent foramen ... OMIM:306955
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Patent ductu... OMIM:601186
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Webbed neck, Branchial anomaly, Sensorineural hearing impairme... ORPHA:1131
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Telangiectasia of the skin, Mitral regurgitation OMIM:212112
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy OMIM:161800
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Truncus arte... ORPHA:2299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Left ventri... OMIM:619167
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy OMIM:255310
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage ORPHA:280679
Tibial Muscular Dystrophy, Tardive
Cardiomyopathy OMIM:600334
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Verheij Syndrome
Coloboma, Truncus arteriosus, Short neck, Ventricular septal defect, Branchial cyst OMIM:615583
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy ORPHA:272
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation ORPHA:401923
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c... OMIM:620300
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de... OMIM:620444
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Patent... ORPHA:95430
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... ORPHA:398124
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Global systolic dysfunction OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Abnormal left ventricular function OMIM:607155
Barth Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Incre... OMIM:302060
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri... ORPHA:26793
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Coloboma, Abnormal helix morphology, Increased ... ORPHA:453499
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova... OMIM:619343
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Holoprosencephaly
Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Abnormal pinna morphology, Abnormal an... ORPHA:2162
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Meckel Syndrome 14
Single ventricle OMIM:619879
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Dilated cardiomyopa... ORPHA:99901
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure OMIM:605676
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Tricus... OMIM:619705
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... OMIM:300952
Mcleod Syndrome
Atrial fibrillation, Dilated cardiomyopathy, Cardiomyopathy OMIM:300842
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98853
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Protruding ear, Sensorineural hearing impairment, Branchial cyst ORPHA:435938
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Dilated cardiomyopathy, Portal hypertension, Abnormal cardiomyocyte mor... ORPHA:367
Bor Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hearing impairment, Atresia of... ORPHA:107
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out... ORPHA:2326
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Branchiootic Syndrome
Abnormal middle ear morphology, Sensorineural hearing impairment, Hearing impairment, Conductive ... ORPHA:52429
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo... ORPHA:98855
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic c... OMIM:230500
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia OMIM:609015
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Single ventricle, Abnormal cardiac septum morphology OMIM:308050
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Abnormal antihelix morphology, Abnormal hel... ORPHA:261337
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Oligomeganephronia
Hypertension, Hearing impairment, Secundum atrial septal defect, Optic disc coloboma, Branchial cyst ORPHA:2260
Fryns Microphthalmia Syndrome
Macrotia, Neural tube defect OMIM:600776
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Pulmonary arterial hypertension, Tachycardia, Aborted sudden cardiac death, Ventric... OMIM:614921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... OMIM:253800
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged QT interval ORPHA:66634
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy ORPHA:70595
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Protruding ear, Branchial anomaly, Coloboma, Sensorineural hearing impairment, Increased nuchal t... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Protruding ear, Branchial anomaly, Coloboma, Sensorineural hearing impairment, Increased nuchal t... ORPHA:352665
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Alg3-Cdg
Hearing impairment, Cardiomyopathy, Abnormal pinna morphology, Neural tube defect ORPHA:79321
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Hematochezia OMIM:615895
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Abnormal earlobe morphology, Sensorineural hearing impairment, Truncus arte... ORPHA:261330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy OMIM:251110
Hec Syndrome
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia ORPHA:2119
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia OMIM:608836
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Patent foramen ovale, Microtia, Overfolded helix, Bilateral conductive ... OMIM:620186
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Cardiomyopathy, Pulmonary... ORPHA:550
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Treacher-Collins Syndrome
Iris coloboma, Encephalocele, Microtia, Conductive hearing impairment, Patent ductus arteriosus, ... ORPHA:861
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hearing impairment, Branchial anomaly, Prominent antihelix, Posteriorly rotated ears ORPHA:466950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Aortic valve steno... OMIM:617660
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231226
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Atrial fibrillation, Left ventricular hypertrophy, Ve... ORPHA:254892
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Asymmetry of the ears, Spina bifida o... ORPHA:508488
Vici Syndrome
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Left ventricular hypertrophy, Dil... OMIM:242840
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:164310
Sweet Syndrome
Small vessel vasculitis, Dilated cardiomyopathy ORPHA:3243
Holoprosencephaly 1
Single ventricle OMIM:236100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:607459
Beta-Thalassemia Major
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231214
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic cardiomyopathy ORPHA:255210
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Atrial septal defect, Dysplastic pulmonary valve, Tricuspid regurgi... OMIM:612863
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability OMIM:105120
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy ORPHA:89842
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hypertension, Pulmonary arterial hypertensio... OMIM:619573
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Abnormal heart morphology, Dilated cardiomyopathy, Pulmonary emb... ORPHA:79282
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran... ORPHA:3260
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Hypertension, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy OMIM:615688
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi... ORPHA:268810
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Holoprosencephaly 2
Single ventricle OMIM:157170
Neurocardiofaciodigital Syndrome
Atrial septal defect, Tetralogy of Fallot, Double inlet left ventricle, Patent ductus arteriosus OMIM:619869
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral valve prol... ORPHA:2556
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Right atrial enl... OMIM:620233
Alstrom Syndrome
Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:203800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Branchiooculofacial Syndrome
Branchial anomaly, Sensorineural hearing impairment, Microtia, Low-set ears, Hypoplastic superior... OMIM:113620
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar... OMIM:614008
Craniofacial Microsomia 1
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Branchial anomaly, Sensorineura... OMIM:164210
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Witteveen-Kolk Syndrome
Iris coloboma, Glue ear, Sensorineural hearing impairment, Hearing impairment, Macrotia, Uplifted... OMIM:613406
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac... ORPHA:273
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ... OMIM:607872
1P36 Deletion Syndrome
Abnormal heart valve morphology, Tetralogy of Fallot, Dilated cardiomyopathy, Telangiectasia, Abn... ORPHA:1606
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Brain abscess ORPHA:54251
Adult-Onset Still Disease
Myocarditis, Anemia, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly ORPHA:829
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart mor... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart mor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart mor... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart mor... ORPHA:93924
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy ORPHA:79408
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Choreoacanthocytosis
Dilated cardiomyopathy ORPHA:2388
Alg9-Cdg
Atrial septal defect, Abnormal left ventricular outflow tract morphology, Tricuspid regurgitation... ORPHA:79328
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal helix morphology, Abnormal cochlea morpho... ORPHA:798
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Portal hypertension, Dilated cardiomyopathy, Ventri... OMIM:243800
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, R... OMIM:614437
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Viss Syndrome
Atrial septal defect, Epidural hemorrhage, Patent foramen ovale, Coronary sinus enlargement, Pulm... OMIM:619472
Alström Syndrome
Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Portal hypertension, Myo... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tbx20

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tbx20.

No publications found that use IMPC mice or data for Tbx20.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tbx20tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbx20tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Tbx20tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Tbx20em1(IMPC)Mbp Exon Deletion Mice, Tissue

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