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Gene: Kcnh2 MGI:1341722

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
potassium voltage-gated channel, subfamily H (eag-related), member 2
Synonyms:
M-erg,  LQT,  merg1b,  ether a go-go related,  ERG1,  merg1a,  Lqt2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Kcnh2 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 predicted to be associated to Kcnh2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... OMIM:239850
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Congenital Disorder Of Glycosylation, Type Il
Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, Ascites OMIM:608776
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Nathalie Syndrome
Arrhythmia ORPHA:2663
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Short neck OMIM:613885
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Sudden cardiac death, Neck joint contracture, Dilated cardio... OMIM:181350
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Limited neck flexion, Arrhythmia, Short neck OMIM:300696
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Intrauterine growth retardation, Truncus a... OMIM:615583
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... OMIM:620070
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... ORPHA:36412
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Illum Syndrome
Bradycardia OMIM:208155
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... ORPHA:199241
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hypertension, Increased blood pre... OMIM:619487
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Webbed neck, Pleural effusion, Cystic hygroma OMIM:617822
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Abnormal myocardium morpholog... ORPHA:77259
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites ORPHA:93552
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Symmetrical Thalamic Calcifications
Arrhythmia, Polyhydramnios ORPHA:1314
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Abnormality of ... ORPHA:464329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Pericar... ORPHA:99827
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Alg9-Cdg
Thickened nuchal skin fold, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Shor... ORPHA:79328
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valve morphology, ... ORPHA:1194
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy OMIM:212065
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Atrial septal defect, Intraut... ORPHA:261330
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta, Mitral valve prolapse ORPHA:230839
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... ORPHA:2847
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Hypertension, Dehydration ORPHA:2260
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Aortic root aneurysm, Webbed neck, Umbilical hernia ORPHA:536532
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus... OMIM:235200
Myhre Syndrome
Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Hypertensi... OMIM:139210
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Gitelman Syndrome
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-normal blood pressure, Sy... ORPHA:358
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine gr... OMIM:615846
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short neck, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Hec Syndrome
Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis ORPHA:2119
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Noonan Syndrome 5
Polyhydramnios, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Arrhythmia, Hyp... OMIM:611553
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, Abnormal aor... ORPHA:3099
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Aymé-Gripp Syndrome
Pericardial effusion, Patent ductus arteriosus, Pericarditis ORPHA:1272
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Spinal... ORPHA:2162
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
D-Glyceric Aciduria
Bradycardia OMIM:220120
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Pedal edema, Hypotension, Arrhythmia, Pleural effusion, Pulmonary edema ORPHA:188
Hennekam Syndrome
Delayed eruption of teeth, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Patent du... ORPHA:261337
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Epistaxis, Edema ORPHA:167
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... OMIM:617877
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Xerostomia, Jaw... ORPHA:85443
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites ORPHA:538
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Short neck, Mitral regurgitation, Atrial septal ... ORPHA:254346
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Short neck, Atrioventricu... ORPHA:508488
Encephalitis Lethargica
Bradycardia ORPHA:83600
Heart-Hand Syndrome Type 2
Arrhythmia, Low posterior hairline ORPHA:1350
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Predominantly lower limb lymphedema, Arrhythmia, Webbed neck ORPHA:33001
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Cardiomegaly ORPHA:42
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly OMIM:255120
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Ogden Syndrome
Cardiogenic shock, Torticollis, Ventricular septal defect, Arrhythmia ORPHA:276432
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Arrhythmia ORPHA:228305
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Intrauterine growth retardation, Arrhythmia, Neonatal death, Umbilical hernia, Hype... OMIM:614052
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism ORPHA:624
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Polyhydramnios, Pulmonary arterial hypertension, Atrial septal defec... OMIM:620186
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia, Double ... ORPHA:397
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Bor Syndrome
Branchial cyst ORPHA:107
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Joint swelling, Arrh... ORPHA:465508
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Third degree atrioventricular block OMIM:530000
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Palpebral edema, Angina pectoris,... ORPHA:93672
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven... ORPHA:746
Legionnaires Disease
Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the neck, Arrhythmia OMIM:273400
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Cardiac arrest ORPHA:168593
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Abnormal cardiomyocyte morphology, Cardiomy... ORPHA:565612
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... ORPHA:31824
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal heart morphology ORPHA:26791
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Intrauterine growth retardation, Arrhythmia, Patent foramen ovale OMIM:619184
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Palpitations, Hypotensi... ORPHA:100078
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Arrhythmia ORPHA:2238
Lyme Disease
Joint swelling, Arrhythmia, Atrioventricular block ORPHA:91546
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Scorpion Envenomation
Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Myocarditis, Congestive ... ORPHA:466677
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short ne... OMIM:300855
Agel Amyloidosis
Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Arrhythmia, Orthostatic hypotension due to a... ORPHA:85448
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Pagod Syndrome
Encephalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningocele, Hypoplast... ORPHA:991
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Kleefstra Syndrome
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Advanced eruption of... ORPHA:261494
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Dehydration ORPHA:171876
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Oligohydram... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Advanced eruption of teeth, Atrial septal de... ORPHA:1519
Noonan Syndrome
Thickened nuchal skin fold, Abnormal pulmonary valve morphology, Lymphedema, Low posterior hairli... ORPHA:648
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Edema, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, P... ORPHA:254892
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida, Lymphedema ORPHA:2874
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... ORPHA:221
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Botulism
Arrhythmia, Xerostomia ORPHA:1267
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Pedal edema, Arrhythmia, Ascites ORPHA:342
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Arrh... ORPHA:258
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Foodborne Botulism
Arrhythmia, Xerostomia ORPHA:228371
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites ORPHA:139411
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Arrhythmia, Tricuspid regurgitation ORPHA:261211
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... ORPHA:217085
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231226
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... ORPHA:217093
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect ORPHA:2710
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect ORPHA:3138
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, ... OMIM:164210
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula, Polyhydramnios, Intrauterine growth retardation OMIM:613406
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231214
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... ORPHA:79318
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Leber Optic Atrophy
Arrhythmia OMIM:535000
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Stiff neck, Nuchal rigidity, Arrhythmia, Cerebral edema ORPHA:68
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Short neck, Mitral valve prolapse... OMIM:218040
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Branchiooculofacial Syndrome
Intrauterine growth retardation, Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Localized Scleroderma
Raynaud phenomenon, Arrhythmia, Vasculitis ORPHA:90289
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia, Short neck OMIM:250220
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Mitral regurgitation, Abn... ORPHA:2556
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Schwartz-Jampel Syndrome
Polyhydramnios, Short neck, Pulmonary arterial hypertension, Umbilical hernia, Arrhythmia ORPHA:800
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Second degree atri... ORPHA:3385
Ivic Syndrome
Arrhythmia ORPHA:2307
Plague
Tachycardia, Edema, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Cockayne Syndrome B
Intrauterine growth retardation, Arrhythmia, Hypertension, Delayed eruption of primary teeth OMIM:133540
Cockayne Syndrome A
Intrauterine growth retardation, Arrhythmia, Hypertension, Delayed eruption of primary teeth OMIM:216400
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Cardiomyopathy, Total anomal... OMIM:312870
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia, Cardiomegaly OMIM:256040
Stickler Syndrome
Advanced eruption of teeth, Arrhythmia, Mitral valve prolapse ORPHA:828
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect OMIM:181450
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Arrhythmia, Ascending tubular aorta aneurysm ORPHA:285

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 Kcnh2

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 Kcnh2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Optimized Tuning of Auditory Inner Hair Cells to Encode Complex Sound through Synergistic Activity of Six Independent K+ Current Entities. Cell reports (July 2020) Kcnh2tm1c(EUCOMM)Wtsi Kcnh2tm1a(EUCOMM)Wtsi 32640234

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
Kcnh2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kcnh2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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