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Gene: Tbx20 MGI:1888496

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Gene Summary

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

Order Alleles

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 neural tube closure Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
increased neutrophil cell number Tbx20em1(IMPC)Mbp HET Early adult 4.31×10-05
abnormal placenta morphology Tbx20em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Tbx20em1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitelline vasculature morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal otic vesicle morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Tbx20em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart looping Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Tbx20em1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Tbx20em1(IMPC)Mbp HOM   E15.5 0.00
abnormal somite shape Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal blood vessel morphology Tbx20em1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Tbx20em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Tbx20em1(IMPC)Mbp HOM E9.5 0.00
small heart Tbx20em1(IMPC)Mbp HET Early adult 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.

X-ray

XRay Images Whole Body Dorso Ventral

66 Images

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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 Lateral Orientation

22 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
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect 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, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 2A
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1M
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... OMIM:607482
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Dilated, 1Hh
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... 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
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1K
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy OMIM:605582
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... 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
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Cardiomyopathy, Dilated, 2B
Congestive heart failure, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... OMIM:615248
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611615
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602086
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyocyte hypertrophy, Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 2G
Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial enlargement, Cerebral hemo... OMIM:619897
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Hypotension, Right atrial enlargement, Abnormal ST se... OMIM:612422
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... OMIM:613690
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy OMIM:619492
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Concentric hypertrophic cardiomyopathy, Left atrial enlargement, R... OMIM:619402
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:616198
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... OMIM:613854
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
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, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebs... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia, Dilated cardiomyopathy OMIM:605676
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Glycogen Storage Disease 0, Muscle
Cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:611556
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Biv... OMIM:619424
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
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... OMIM:620236
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... OMIM:614676
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Sudden cardiac death, Reduced left ventr... OMIM:612124
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... OMIM:208530
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Reduced systolic function, Dilated cardiomyopathy OMIM:616827
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy ORPHA:206546
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Interstitial cardiac fibrosis, Left anterior fascicular block, Reduced left ventricular ejection ... OMIM:181350
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation, Left ventricula... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy ORPHA:206559
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... OMIM:611705
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Myopathy, Distal, 1
Dilated cardiomyopathy, Left atrial enlargement OMIM:160500
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... OMIM:115197
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... ORPHA:439
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Mitral regurgitation, Left atrial enlargement, Syncope, Pulmonary ... ORPHA:75249
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Ventricular sept... OMIM:619702
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... OMIM:614473
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, Bi... OMIM:255160
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... ORPHA:45453
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Scimitar Syndrome
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial sept... ORPHA:185
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... OMIM:610198
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death 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
Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:1349
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Atrial fibrillation, Angina pectoris, Hypertrophic ca... OMIM:115195
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Dk1-Cdg
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D... ORPHA:91131
Sudden Cardiac Failure, Infantile
Myocarditis, Bradycardia, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyop... OMIM:617222
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Myopathy, Centronuclear, 5
Mitral regurgitation, Dilated cardiomyopathy OMIM:615959
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Microphthalmia, Syndromic 9
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent d... OMIM:601186
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy OMIM:145350
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin OMIM:212112
Familial Cutaneous Collagenoma
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect ORPHA:53296
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... ORPHA:216694
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... OMIM:614022
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Heterotaxy, Visceral, 1, X-Linked
Single ventricle, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, ... OMIM:306955
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Conductive hearing impairment, Protruding ear, Pulmonic stenos... ORPHA:1131
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Aortic Arch Interruption
Left ventricular hypertrophy, Ventricular septal defect, Aortopulmonary window, Abnormal heart mo... ORPHA:2299
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy OMIM:161800
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Branchial fistula, Cupped ear, Sen... OMIM:602588
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Atrio... OMIM:270100
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage ORPHA:280679
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Mixed hearing impairment, Atresia of the external auditor... OMIM:609166
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... OMIM:619167
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy ORPHA:272
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy OMIM:255310
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia, Dilatation ... OMIM:600996
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Verheij Syndrome
Short neck, Ventricular septal defect, Branchial cyst, Truncus arteriosus, Coloboma OMIM:615583
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... ORPHA:99104
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Bicuspid aortic valve, Aortic regurgitation, Dilated cardiomyopathy ORPHA:401923
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Polymyositis
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Gastrointestinal hemorrhage, Congestive... ORPHA:732
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... ORPHA:50815
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Rig... ORPHA:555874
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... ORPHA:99106
Diamond-Blackfan Anemia 4
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia OMIM:612527
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... OMIM:619313
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:310200
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Tricusp... ORPHA:422
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Barth Syndrome
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Dilated cardiomyopathy, Hypertroph... OMIM:302060
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Abnormal heart mor... ORPHA:398124
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Global systolic dysfunction OMIM:606842
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Tachycardia, Atrial septal defect, Ventricular septal defect, Arrhythmia... ORPHA:26793
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... OMIM:609040
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... ORPHA:2041
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... OMIM:619343
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy OMIM:607155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Meckel Syndrome 14
Single ventricle OMIM:619879
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453499
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis, Tricuspid regurgitation OMIM:619433
Holoprosencephaly
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, External ear malformation,... ORPHA:2162
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopat... ORPHA:99901
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:300845
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Ventricular tachycardia, Dilated cardiomyopathy, Ventricular fibrillation, Histio... OMIM:300952
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... OMIM:615745
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:261
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Abnormal cardiomyocyte mor... ORPHA:367
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement, Bi... ORPHA:555877
Cardiac Valvular Dysplasia 1
Mitral stenosis, Hypoplasia of right ventricle, Double inlet left ventricle, Pulmonic stenosis, A... OMIM:212093
Kallmann Syndrome-Heart Disease Syndrome
Mitral regurgitation, Aortic regurgitation, Pulmonary insufficiency, Double outlet right ventricl... ORPHA:2326
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Conductive hearing impairment, Incomplete partition of the coc... OMIM:113650
Gm1-Gangliosidosis, Type I
Congestive heart failure, Abnormal heart valve morphology, Dilated cardiomyopathy, Hypertrophic c... OMIM:230500
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... ORPHA:37553
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia OMIM:600776
Bor Syndrome
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... ORPHA:107
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Endocardial fibroelastosis, Mitral regurgitation OMIM:226100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... ORPHA:98855
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Sensorineural hearing impairment, Protruding ear ORPHA:435938
Mcleod Syndrome
Cardiomyopathy, Atrial fibrillation, Dilated cardiomyopathy OMIM:300842
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial fistula, Hearing... ORPHA:52429
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Single ventricle OMIM:308050
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy OMIM:609015
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... ORPHA:34217
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Collagenoma, Familial Cutaneous
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... OMIM:115250
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Cardiomyopathy, Hypertension ORPHA:3222
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Hearing impairment, Branchial cyst, Optic disc coloboma ORPHA:2260
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect OMIM:614435
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Protruding ear, Ventricular septal defect, Abnormal helix morphology, Hydrocephalus... ORPHA:261337
Leigh Syndrome With Cardiomyopathy
Mitral regurgitation, Pulmonic stenosis, Congestive heart failure, Cardiac conduction abnormality... ORPHA:70474
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardiac death, Sudden ... OMIM:614921
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... OMIM:234700
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Arrhythmia, Palpitation... ORPHA:263297
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Transpositi... OMIM:253800
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy ORPHA:70595
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:71212
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Cystic hygroma, Conductive hearing impairment, Protruding ear, Atr... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Cystic hygroma, Conductive hearing impairment, Protruding ear, Atr... ORPHA:352665
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Cardiomyopathy, Hematochezia, Congestive heart failure, Dilated cardiomyopathy OMIM:615895
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Right ventricular failure, Syncope, Palpitation... ORPHA:70591
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Arterial Tortuosity Syndrome
Myocarditis, Cardiac arrest, Telangiectasia of the skin, Hypertension, Abnormal myocardium morpho... ORPHA:3342
Alg3-Cdg
Abnormal pinna morphology, Cardiomyopathy, Neural tube defect, Hearing impairment ORPHA:79321
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Alstrom Syndrome
Hypertension, Congestive heart failure, Dilated cardiomyopathy OMIM:203800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Branchial fistula, Aortic regurgitation, Sensori... ORPHA:261330
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy OMIM:608836
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Hypertension, Left ventricular hypertrophy OMIM:102200
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Melas
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Wolff-Parkinson-White sy... ORPHA:550
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Severe sensorineural hearing impairment, Conductive hearing impairment, Pulmonary a... OMIM:620186
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Treacher-Collins Syndrome
Encephalocele, Conductive hearing impairment, Iris coloboma, Branchial fistula, Narrow internal a... ORPHA:861
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Dilated cardiomyopathy OMIM:610505
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Dominant Beta-Thalassemia
Arrhythmia, High-output congestive heart failure, Dilated cardiomyopathy ORPHA:231226
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Prominent antihelix, Posteriorly rotated ears, Hearing impairment ORPHA:466950
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Dilated cardiomyopathy, Hypotension ORPHA:20
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmia, Palpitation... ORPHA:254892
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Right atrial enl... OMIM:620233
Vici Syndrome
Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Congestive heart failure, Dil... OMIM:242840
Sweet Syndrome
Small vessel vasculitis, Dilated cardiomyopathy ORPHA:3243
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dysplastic aortic valve, Atrioventricular canal defect, Short neck, Po... ORPHA:508488
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Left atrial enlargement, Sinus tachycardia... OMIM:614008
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral valve prolapse, Mitral regurgitation, Dilated cardiomyopathy OMIM:607459
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:164310
Beta-Thalassemia Major
Arrhythmia, High-output congestive heart failure, Dilated cardiomyopathy ORPHA:231214
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Abnormal heart morpholo... ORPHA:79282
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glycogen content, ... OMIM:261740
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Atrial septal defect, Atrioventricular canal defect, Hypertensio... OMIM:619573
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy ORPHA:89842
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Vasculitis, Hypertension, Portal hypertension, Dilated cardiomyopathy OMIM:615688
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Limitation of neck motion, Lipomyelomeningocele, Occipital meningocel... ORPHA:268810
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Intracranial hemorrhage, Pulmonary embolism, Myocardial eosinophilic infiltra... ORPHA:3260
Aneurysm Of Sinus Of Valsalva
Edema, Bacterial endocarditis, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Holoprosencephaly 2
Single ventricle OMIM:157170
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... ORPHA:3226
Holoprosencephaly 1
Single ventricle OMIM:236100
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Arrhythmia, Tricuspid valve prolapse, Tricuspid regurgitation, Dilated card... ORPHA:2556
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Neutrophilia, Pericarditis, Splenomegaly ORPHA:829
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Double inlet left ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:619869
Branchiooculofacial Syndrome
Fusion of middle ear ossicles, Low-set ears, Conductive hearing impairment, Iris coloboma, Short ... OMIM:113620
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Craniofacial Microsomia
Conductive hearing impairment, Underdeveloped tragus, Tetralogy of Fallot, Ventricular septal def... OMIM:164210
Steinert Myotonic Dystrophy
Prolonged QRS complex, Left ventricular systolic dysfunction, Supraventricular tachycardia, Prolo... ORPHA:273
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defec... OMIM:607872
1P36 Deletion Syndrome
Tetralogy of Fallot, Abnormal heart valve morphology, Telangiectasia, Dilated cardiomyopathy, Abn... ORPHA:1606
Witteveen-Kolk Syndrome
Uplifted earlobe, Iris coloboma, Protruding ear, Intracranial hemorrhage, Branchial fistula, Hear... OMIM:613406
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Semilobar Holoprosencephaly
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Abnormal heart rate variability, Hydrocephalus, Abnormal heart morphology, Sensorineura... 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
Schinzel-Giedion Syndrome
Low-set ears, Short neck, Abnormal helix morphology, Umbilical hernia, Infantile sensorineural he... ORPHA:798
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Portal hypertension, Dil... OMIM:243800
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Familial Mediterranean Fever
Neutrophilia, Pericarditis, Leukocytosis, Splenomegaly OMIM:249100
Alström Syndrome
Pulmonary arterial hypertension, Hypertension, Abnormal coronary artery physiology, Portal hypert... 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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