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,  merg1a,  ether a go-go related,  ERG1,  merg1b,  Lqt2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Right bundle bran... OMIM:115197
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Short neck, Arrhythmia OMIM:300696
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Pulmonary arteria... ORPHA:2414
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failu... ORPHA:2041
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Cantu Syndrome
Congenital hypertrophy of left ventricle, Short neck, Patent ductus arteriosus, Lymphedema, Bicus... OMIM:239850
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestiv... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Nathalie Syndrome
Arrhythmia ORPHA:2663
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular ... OMIM:617021
Congenital Disorder Of Glycosylation, Type Il
Short neck, Ascites, Edema, Pericardial effusion, Abnormal cardiac septum morphology OMIM:608776
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Intrauterine growth retardation, Arrhythmia, Congestive heart failure OMIM:616198
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... OMIM:614022
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Intr... ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Congestive heart failure, Atrial septa... ORPHA:1880
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycar... OMIM:618775
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericardial effusion, Pericarditis ORPHA:231111
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Abnormal tricuspid valve morphology, Patent ductus arteriosu... ORPHA:1330
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Small vessel vasculitis, Ascites, ... ORPHA:36412
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Illum Syndrome
Bradycardia OMIM:208155
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Pleural effusion, Hypotension, Polyhydramnios, Cardiomyopathy, Feta... ORPHA:292
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Restricted neck movement due to contractures, Sudden cardiac death, Arrhy... OMIM:181350
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly ORPHA:1131
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pleural effusion, Elevated pulmonary artery pressure, Pedal edema, H... ORPHA:199241
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Variegate Porphyria
Tachycardia OMIM:176200
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Aicardi-Goutieres Syndrome 9
Portal hypertension, Intrauterine growth retardation, Edema, Hypertension, Increased blood pressu... OMIM:619487
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Acute Interstitial Pneumonia
Hypertension, Pleural effusion, Peripheral edema, Pericardial effusion ORPHA:79126
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral stenosis, Ventricular ... ORPHA:1686
Alkuraya-Kucinskas Syndrome
Webbed neck, Edema, Cystic hygroma, Pericardial effusion OMIM:617822
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Congestive heart failure, Atrial s... ORPHA:860
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Wolff-Parkinson-White s... OMIM:540000
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Raynaud phenomenon, Edema, Pericardial effusion ORPHA:93552
Gaucher Disease Type 1
Abnormal myocardium morphology, Pulmonary arterial hypertension, Pedal edema, Ascites, Pericardia... ORPHA:77259
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Endocardial fibroelastosis, Hypertr... OMIM:302060
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Epistaxis, Pleural effusion, Epidural hemorrhage, Abnormality of the ... ORPHA:464329
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Atrial septal defect, Pleural effusion, Lymphedema, Periorbital edema,... OMIM:235510
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:602390
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Pulmonic stenosis, Mitral valve prolapse, Tricuspid ... ORPHA:228410
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Abnormal left ventricu... ORPHA:75249
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, P... ORPHA:275766
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Q Fever
Abnormal heart valve morphology, Abnormal left ventricular function, Myocarditis, Pleural effusio... ORPHA:781
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Poems Syndrome
Pleural effusion, Pulmonary arterial hypertension, Ascites, Edema, Pericardial effusion ORPHA:2905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Cystic hygroma, Atrial septal defect, Pleural effusion, Abnormal... ORPHA:453499
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Alg9-Cdg
Right ventricular dilatation, Short neck, Atrial septal defect, Hydrops fetalis, Thickened nuchal... ORPHA:79328
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Intrauterine growth retardation, Arrhythmia, Congestive hear... ORPHA:1194
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Mitral valve ca... ORPHA:77261
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Cardiomyopathy, Pericardial effusion OMIM:212065
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Hypertension, Pleural effusion, Pericardial effusion OMIM:108050
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Edema, Generalized edema, Pericardial effusion ORPHA:90362
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Mitral valve prolapse, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, P... ORPHA:2847
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Pericardial effusion, Pul... ORPHA:73224
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Congestive... ORPHA:99094
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Aortic regurgitation, Atrial septal defect, Aortic aneurysm, Bra... ORPHA:261330
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Oligomeganephronia
Branchial cyst, Dehydration, Hypertension, Secundum atrial septal defect ORPHA:2260
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Umbilical hernia, Mitral valve prolapse, Pericardial effusion ORPHA:536532
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Myhre Syndrome
Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Hype... OMIM:139210
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Short neck, Arrhythmia ORPHA:3191
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, ST segment depression, Palpitat... ORPHA:358
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Limited neck flexion, Arrhythmia, Abnormal left ventricular function, Left anterior fascicular bl... ORPHA:437572
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Rheumatic Fever
Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Endocarditis, Myoc... ORPHA:3099
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Noonan Syndrome 5
Webbed neck, Short neck, Arrhythmia, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic ... OMIM:611553
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Hec Syndrome
Polyhydramnios, Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Pleural effusion, Cardiomyopathy, Ascites, ... OMIM:235200
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Aymé-Gripp Syndrome
Pericardial effusion, Patent ductus arteriosus, Pericarditis ORPHA:1272
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Arrhythmia, Predominantly lower limb lymphedema, L... OMIM:153400
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypotension, Ventricular arrhythmia, Hypertension, Palpitations, Perica... ORPHA:91347
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Abnormal heart morphology, Prolonged QT interval, Atrioventri... ORPHA:398124
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Short neck, Arrhythmia, Spinal dysraphi... ORPHA:2162
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Lymphedema, Transient ischemic attac... OMIM:301500
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Periorbital edema, Cardiomyopathy, Edema ORPHA:3386
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Palpebral edema, Tricuspid valve prolapse, Branchial fistu... ORPHA:261337
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Sudden cardiac death, Arrhythmia ORPHA:156
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Systemic Capillary Leak Syndrome
Arrhythmia, Myocarditis, Pleural effusion, Hypotension, Pedal edema, Pericarditis, Pulmonary edema ORPHA:188
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Webbed neck, Intrauterine g... ORPHA:500
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Chédiak-Higashi Syndrome
Epistaxis, Edema, Pleural effusion, Pericardial effusion ORPHA:167
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Aortic aneurysm, Ventricular sep... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Aortic aneurysm, Ventricular sep... ORPHA:352665
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Kniest-Like Dysplasia, Lethal
Short neck, Patent ductus arteriosus, Arrhythmia, Atrial septal defect, Polyhydramnios, Edema OMIM:245190
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Hydrops fetalis, Lymphedema, Ascites, Pericardial effusion ORPHA:2136
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Bradycardia, Tach... ORPHA:94093
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Peripheral edema, Gastrointestinal hemorrhage, Arrhyt... ORPHA:85443
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Heart-Hand Syndrome Type 2
Arrhythmia, Low posterior hairline ORPHA:1350
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Lymphangioleiomyomatosis
Chylothorax, Gastrointestinal hemorrhage, Lymphedema, Ascites, Chylopericardium ORPHA:538
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Hypotension, Myocarditis, Bradycardia, Shock ORPHA:319213
Lymphedema-Distichiasis Syndrome
Arrhythmia, Webbed neck, Predominantly lower limb lymphedema, Patent ductus arteriosus ORPHA:33001
19P13.12 Microdeletion Syndrome
Short neck, Intrauterine growth retardation, Aortic regurgitation, Arrhythmia, Atrial septal defe... ORPHA:254346
Encephalitis Lethargica
Bradycardia ORPHA:83600
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Pulmonary hemorrhage, Myocardial infarction, Pulmonary arteria... ORPHA:2038
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Weak pulse, Myocardial calcification, Retinal hemorrhage, ... ORPHA:51608
Congenital Hypothyroidism
Abnormal pericardium morphology, Arrhythmia, Hypotension, Palpebral edema, Hypertension, Umbilica... ORPHA:442
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Ogden Syndrome
Torticollis, Cardiogenic shock, Ventricular septal defect, Arrhythmia ORPHA:276432
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia, Ventricular hypertrophy ORPHA:228305
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Arrhythmia ORPHA:42
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Abnormal left ventricular function OMIM:618098
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Familial Multiple Nevi Flammei
Pulmonary embolism, Edema, Intracranial hemorrhage, Arrhythmia ORPHA:624
Typhoid
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99745
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Card... ORPHA:465508
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Capillary leak, Heart block... ORPHA:542323
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Hydrops fetalis, Arrhythmia, Congestive heart failure OMIM:609015
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Arrhythmia OMIM:530000
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Vasculitis, Pericarditis, Epis... ORPHA:727
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Intrauterine growth retardation, Arrhythmia, Hypertrophic cardiomyopathy, Hypertension, Umbilical... OMIM:614052
Legionnaires Disease
Arrhythmia, Hypotension, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Tricuspid regurgitati... ORPHA:746
Mgat2-Cdg
Arrhythmia, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, Ventricular sep... ORPHA:79329
Bor Syndrome
Branchial cyst ORPHA:107
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the neck, Arrhythmia OMIM:273400
Ileal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Palpitations, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Palpitations, ... ORPHA:100077
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Palpebral ... ORPHA:93672
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Ogden Syndrome
Torsade de pointes, Arrhythmia, Premature ventricular contraction, Atrial septal defect, Ventricu... OMIM:300855
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Hypotension, Myocarditis, D... ORPHA:31824
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia ORPHA:159
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypotension, Capillary leak, Pericarditis, Bradycardia, ... ORPHA:99826
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Mucosal telangiectasiae, Arrhyth... ORPHA:324
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, Arrhythmia OMIM:619184
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Arrhythmia, Abnormal cardiomyocyte morphology, Cardiomyopathy, Low-outp... ORPHA:565612
Lyme Disease
Joint swelling, Atrioventricular block, Arrhythmia ORPHA:91546
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal heart morphology, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:26791
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Arrhythmia ORPHA:2238
Scorpion Envenomation
Premature ventricular contraction, Arrhythmia, Congestive heart failure, T-wave inversion, Cardio... ORPHA:466677
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Duodenal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Hematemesis, M... ORPHA:100076
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Agel Amyloidosis
Arrhythmia, Blepharochalasis, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:85448
Pagod Syndrome
Arrhythmia, Sudden cardiac death, Situs inversus totalis, Hypoplastic left heart, Spina bifida, M... ORPHA:991
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
8Q24.3 Microdeletion Syndrome
Complete atrioventricular canal defect, Truncus arteriosus, Branchial cyst, Short neck, Intrauter... ORPHA:508488
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Kleefstra Syndrome
Tetralogy of Fallot, Delayed eruption of teeth, Arrhythmia, Ventricular septal defect, Bicuspid a... ORPHA:261494
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Hypovolemic shock, Arrhythmia ORPHA:171876
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Cardiomegaly, Oligohydram... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Arrhythmia, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Advanced eruption of teeth, Patent ductus arteriosus, Arrhythmia, Atrial sep... ORPHA:1519
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Noonan Syndrome
Abnormal pulmonary valve morphology, Webbed neck, Cystic hygroma, Arrhythmia, Thickened nuchal sk... ORPHA:648
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Cerebral ischemia, Arrhythmia ORPHA:60040
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Arrhythmia, Ventricular arrhythmia, Atrial fib... ORPHA:254892
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Dermatomyositis
Sinus tachycardia, Arrhythmia, Myocarditis, Myocardial infarction, Telangiectasia of the skin, Pu... ORPHA:221
Mastocytosis
Gastrointestinal hemorrhage, Angioedema, Arrhythmia, Hypotension, Telangiectasia of the skin ORPHA:98292
Von Hippel-Lindau Disease
Abnormal left ventricular function, Arrhythmia, Myocarditis, Myocardial infarction, Macular edema... ORPHA:892
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Botulism
Xerostomia, Arrhythmia ORPHA:1267
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Gastrointestinal hemorrhage, Arrhythmia, Periorbital edema, ... ORPHA:900
Foodborne Botulism
Xerostomia, Arrhythmia ORPHA:228371
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:580
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Familial Mediterranean Fever
Arrhythmia, Myocardial infarction, Pedal edema, Vasculitis, Ascites, Pericarditis ORPHA:342
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Dehydration ORPHA:2131
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:217085
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Arrhythmia, Histiocytoid cardiomyopathy, Atrial septal defect, Ventricular sept... OMIM:309801
Dominant Beta-Thalassemia
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia ORPHA:231226
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Reduced ejection fraction, Arrhythmia, Pulmonary arterial hypertension, Cardiomyo... ORPHA:258
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Intrauterine growth retardation, Arrhythmia ORPHA:261211
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Hypertension, Ascites, Tachycardia ORPHA:139411
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia ORPHA:3138
Oculodentodigital Dysplasia
Umbilical hernia, Ventricular septal defect, Arrhythmia ORPHA:2710
Beta-Thalassemia Major
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia ORPHA:231214
Craniofacial Microsomia
Tetralogy of Fallot, Patent ductus arteriosus, Occipital encephalocele, Ventricular septal defect... OMIM:164210
Pmm2-Cdg
Anasarca, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Angina pectoris, Intracranial he... ORPHA:79318
Amoebiasis Due To Free-Living Amoebae
Cerebral edema, Arrhythmia, Myocardial necrosis, Nuchal rigidity, Stiff neck ORPHA:68
Leber Optic Atrophy
Arrhythmia OMIM:535000
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia OMIM:610131
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Hypotension, Arrhythmia ORPHA:2135
Costello Syndrome
Webbed neck, Short neck, Arrhythmia, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic ... OMIM:218040
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Branchiooculofacial Syndrome
Branchial anomaly, Short neck, Intrauterine growth retardation, Low posterior hairline OMIM:113620
Localized Scleroderma
Raynaud phenomenon, Vasculitis, Arrhythmia ORPHA:90289
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Short neck, Myocarditis, Arrhythmia OMIM:250220
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Tricuspid valve prolapse, Mitral... ORPHA:2556
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Wiskott-Aldrich Syndrome
Hematochezia, Recurrent intrapulmonary hemorrhage, Arrhythmia, Sudden cardiac death, Vasculitis, ... ORPHA:906
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Schwartz-Jampel Syndrome
Short neck, Arrhythmia, Pulmonary arterial hypertension, Polyhydramnios, Umbilical hernia ORPHA:800
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
African Trypanosomiasis
Second degree atrioventricular block, Arrhythmia, Congestive heart failure, Abnormal EKG, Third d... ORPHA:3385
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Ivic Syndrome
Arrhythmia ORPHA:2307
Plague
Arrhythmia, Hypotension, Hematemesis, Endocarditis, Tachycardia, Edema ORPHA:707
Cockayne Syndrome B
Delayed eruption of primary teeth, Hypertension, Intrauterine growth retardation, Arrhythmia OMIM:133540
Cockayne Syndrome A
Delayed eruption of primary teeth, Hypertension, Intrauterine growth retardation, Arrhythmia OMIM:216400
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Patent ductus arteriosus, Arrhythmia, Atrial septal defe... OMIM:312870
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Arrhythmia, Congestive heart failure OMIM:256040
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Arrhythmia, Atrial septal defect, Polyhydramnios, Ventricular septal de... OMIM:180849
Stickler Syndrome
Advanced eruption of teeth, Mitral valve prolapse, Arrhythmia ORPHA:828
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia OMIM:181450
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Sarcoidosis
Chylothorax, Portal hypertension, Ventricular tachycardia, Arrhythmia, Pleural effusion, Abnormal... ORPHA:797
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Umbilical hernia, Arrhythmia 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.

No publications found that use IMPC mice or data for Kcnh2.

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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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