banner
Genes Phenotypes Help, News, Blog

Gene: Kcnip2 MGI:2135916

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Kv channel-interacting protein 2
Synonyms:
KChIP2

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 Kcnip2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kcnip2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
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, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Nathalie Syndrome
Abnormal EKG OMIM:255990
Nathalie Syndrome
Arrhythmia ORPHA:2663
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... ORPHA:263297
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro... OMIM:613690
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... OMIM:613697
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... OMIM:310300
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa... OMIM:613424
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction OMIM:613876
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... OMIM:612158
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Dystonia 23
Arrhythmia OMIM:614860
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... OMIM:181350
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Arrhythmia ORPHA:85447
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... ORPHA:3093
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Gitelman Syndrome
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... ORPHA:358
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... OMIM:540000
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ... ORPHA:466650
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Hemochromatosis, Type 2A
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:602390
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Mahvash Disease
Palpitations OMIM:619290
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... ORPHA:1880
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... OMIM:115197
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... ORPHA:99104
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Cardiac Valvular Dysplasia 2
Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmonary insufficiency, Heart mur... OMIM:620067
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Arrhythmia OMIM:618098
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon OMIM:611773
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopa... OMIM:610198
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left ventricular func... ORPHA:75249
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Arrhythmia, Pulmonic stenosis, Tricuspid regurgitation ORPHA:228410
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear... ORPHA:860
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Friedreich Ataxia
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG OMIM:229300
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Fixed Subaortic Stenosis
Systolic heart murmur, Left ventricular outflow tract obstruction, Diastolic heart murmur, Syncop... ORPHA:3092
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Absent atrioventricular node, Atrial arrhythmia, Ca... OMIM:234700
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... OMIM:613426
Al Amyloidosis
Reduced left ventricular ejection fraction, Abnormal EKG, Hypertrophic cardiomyopathy, Jaw claudi... ORPHA:85443
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... ORPHA:398124
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... ORPHA:275766
Typhoid
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99745
Autoimmune Hemolytic Anemia
Congestive heart failure, Arrhythmia ORPHA:98375
Hec Syndrome
Cardiomyopathy, Arrhythmia ORPHA:2119
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG ORPHA:230
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG ORPHA:268
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... ORPHA:542323
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Dilated cardiomyopathy, Pericardi... ORPHA:732
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia OMIM:616298
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Dk1-Cdg
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:91131
Familial Multiple Nevi Flammei
Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia OMIM:249270
Familial Hyperaldosteronism Type Iii
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... ORPHA:980
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Leber Optic Atrophy
Arrhythmia OMIM:535000
American Trypanosomiasis
Cardiomyopathy, Myocarditis, Congestive heart failure, Arrhythmia ORPHA:3386
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... ORPHA:26793
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Hemochromatosis, Type 1
Cardiomyopathy, Telangiectasia, Congestive heart failure, Arrhythmia OMIM:235200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:1194
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Left bundle branch block, Ventricular bigeminy, Arrhythmia OMIM:610131
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... ORPHA:437572
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Systemic Capillary Leak Syndrome
Hypotension, Myocarditis, Pericarditis, Arrhythmia ORPHA:188
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Barth Syndrome
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:302060
Fabry Disease
Transient ischemic attack, Congestive heart failure, Angina pectoris, Hypertension, Myocardial in... OMIM:301500
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, S... OMIM:232300
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Hydrops Fetalis
Capillary leak, Arrhythmia ORPHA:1041
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... OMIM:170390
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Chromosome 2Q37 Deletion Syndrome
Arrhythmia OMIM:600430
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia OMIM:611553
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia OMIM:617877
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Cerebral ischemia, Arrhythmia ORPHA:60040
Ileal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... ORPHA:100077
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Botulism
Arrhythmia ORPHA:1267
Rheumatic Fever
Pericarditis, Myocarditis, Epistaxis, Arrhythmia ORPHA:3099
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia ORPHA:159
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Juvenile Dermatomyositis
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... ORPHA:93672
Microscopic Polyangiitis
Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Vascu... ORPHA:727
Foodborne Botulism
Arrhythmia ORPHA:228371
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia ORPHA:228305
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis ORPHA:31824
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Arrhythmia, Cardiomyopathy ORPHA:746
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Symptomatic Form Of Hemochromatosis Type 1
Elevated jugular venous pressure, Congestive heart failure, Arrhythmia, Portal hypertension, Card... ORPHA:465508
Friedreich Ataxia 2
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Abnormal EKG OMIM:601992
Ogden Syndrome
Cardiogenic shock, Arrhythmia ORPHA:276432
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Persistent fetal circulation, Congestive heart failure, Mitral r... ORPHA:363705
Mastocytosis
Hypotension, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia ORPHA:98292
Duodenal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpitations, Tricuspid st... ORPHA:100076
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Arrhythmia ORPHA:254346
Legionnaires Disease
Hypotension, Myocarditis, Pericarditis, Arrhythmia ORPHA:549
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Giant Cell Arteritis
Sudden cardiac death, Cerebral ischemia, Epistaxis, Pericarditis, Arrhythmia, Vasculitis ORPHA:397
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Palpitations, Arrhythmia, Cardiomyopathy ORPHA:565612
Congenital Hypothyroidism
Hypotension, Hypertension, Arrhythmia ORPHA:442
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Palpitations, Se... ORPHA:79102
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:26791
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Ivic Syndrome
Arrhythmia ORPHA:2307
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infarction, Arrhythmia, Pulmonic ste... ORPHA:500
Fabry Disease
Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia of the sk... ORPHA:324
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... ORPHA:94093
Von Hippel-Lindau Disease
Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitations, Arrhythmia... ORPHA:892
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Arrhythmia ORPHA:85448
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Arrhythmia, Heart block ORPHA:228308
Hennekam-Beemer Syndrome
Hypotension, Telangiectasia of the skin, Arrhythmia ORPHA:2135
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Dilated cardiomyopathy, Palpi... ORPHA:254892
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex OMIM:611174
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia ORPHA:2874
African Trypanosomiasis
Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Pericarditis, Arrhyt... ORPHA:3385
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia OMIM:608836
Localized Scleroderma
Vasculitis, Raynaud phenomenon, Arrhythmia ORPHA:90289
Dominant Beta-Thalassemia
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231226
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Dermatomyositis
Pulmonary arterial hypertension, Sinus tachycardia, Telangiectasia of the skin, Pericarditis, Myo... ORPHA:221
Wiskott-Aldrich Syndrome
Sudden cardiac death, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, Arrhythmia, Hemate... ORPHA:906
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Cardiomyopathy, Reduced left ventricular ejection fraction, Arrh... ORPHA:258
Mgat2-Cdg
Reflex asystolic syncope, Arrhythmia ORPHA:79329
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Kleefstra Syndrome
Arrhythmia ORPHA:261494
Granulomatosis With Polyangiitis
Cerebral ischemia, Angina pectoris, Hypertension, Pericarditis, Epistaxis, Gastrointestinal hemor... ORPHA:900
Beta-Thalassemia Major
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231214
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Arrhythmia ORPHA:342
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia OMIM:309801
Kawasaki Disease
Congestive heart failure, Pericarditis, Arrhythmia, Myocarditis, Vasculitis ORPHA:2331
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Oculodentodigital Dysplasia
Arrhythmia ORPHA:2710
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Subconjunctival ... ORPHA:509
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Dilated cardiomyopathy, Cardiac conduction abnormality, Left ventri... ORPHA:273
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Ogden Syndrome
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Premature atri... OMIM:300855
Pagod Syndrome
Sudden cardiac death, Arrhythmia ORPHA:991
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Holoprosencephaly
Arrhythmia ORPHA:2162
Amoebiasis Due To Free-Living Amoebae
Arrhythmia ORPHA:68
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Hypertension, Heart murmur, Arrhythmia ORPHA:217085
Noonan Syndrome
Arrhythmia ORPHA:648
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Arrhythmia, Tricuspid ... ORPHA:2556
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Hypertension, Heart murmur, Arrhythmia ORPHA:217093
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Mucopolysaccharidosis Type 2
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:580
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Sarcoidosis
Abnormal cardiac ventricular function, Heart block, Ventricular tachycardia, Arrhythmia, Portal h... ORPHA:797
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Plague
Hypotension, Tachycardia, Hematemesis, Arrhythmia ORPHA:707
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia OMIM:218040
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia OMIM:256040
Stickler Syndrome
Arrhythmia ORPHA:828
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia ORPHA:285
Simpson-Golabi-Behmel Syndrome, Type 1
Arrhythmia, Pulmonic stenosis, Cardiomyopathy OMIM:312870

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 Kcnip2

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 Kcnip2.

No publications found that use IMPC mice or data for Kcnip2.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Kcnip2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnip2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kcnip2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter