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Gene: Scn5a MGI:98251

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sodium channel, voltage-gated, type V, alpha
Synonyms:
Nav1.5c,  Nav1.5,  mH1,  SkM2

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 Scn5a mutations

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

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

The table below shows human diseases associated to Scn5a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Sudden Infant Death Syndrome
OMIM:272120

The table below shows human diseases predicted to be associated to Scn5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Nathalie Syndrome
Abnormal EKG OMIM:255990
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... OMIM:620734
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Nathalie Syndrome
Arrhythmia ORPHA:2663
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Suprave... ORPHA:98909
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611615
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Premature ventricular contraction, Heart block ORPHA:1964
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Cirrhotic Cardiomyopathy
Jaundice, Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, R... ORPHA:57777
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transamin... ORPHA:26793
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... OMIM:261740
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Variegate Porphyria
Tachycardia OMIM:176200
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... OMIM:255160
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Elevated circulating aspart... OMIM:619048
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617072
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Paroxysmal ... OMIM:613205
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra... ORPHA:398124
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkins... OMIM:618234
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Dk1-Cdg
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:91131
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98855
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Sandhoff Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent respiratory in... ORPHA:796
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Mitral valve prolapse OMIM:616166
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function OMIM:616827
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Dystonia 23
Arrhythmia OMIM:614860
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... OMIM:540000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Failure to thrive, Congestive heart failure OMIM:615440
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Acute hepatic failure, Supravent... ORPHA:423
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Limb-girdle mus... ORPHA:98863
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Atrophoderma Vermiculata
Heart block ORPHA:79100
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr... OMIM:620504
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Illum Syndrome
Bradycardia OMIM:208155
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Torsade de ... OMIM:616878
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul... OMIM:602668
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy OMIM:605676
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Cachexia, Flexion contra... ORPHA:157973
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Hereditary Butyrylcholinesterase Deficiency
Abnormality of the liver, Myocardial infarction, Congestive heart failure ORPHA:132
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy OMIM:611556
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276575
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyop... ORPHA:159
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Myopathy, Distal, 1
Left atrial enlargement, Dilated cardiomyopathy OMIM:160500
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276580
Mcleod Syndrome
Atrial fibrillation, Dilated cardiomyopathy, Cardiomyopathy OMIM:300842
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Failure to thrive, Decreased liver function, Congestive hea... ORPHA:70472
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Recur... OMIM:613327
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevate... OMIM:212140
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Failure to thrive, Congestive heart failure, Muscl... ORPHA:324604
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Low-output congestive heart failure ORPHA:91130
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l... OMIM:619566
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased amplitude of sensory action potentials, Abnormality of the... ORPHA:85446
Infantile Sialic Acid Storage Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:269920
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Ventricular hypertrophy, Heart murmur, Congestive heart failure ORPHA:3400
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Scorpion Envenomation
Acute pancreatitis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch ... ORPHA:466677
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left v... ORPHA:444013
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Pleural effusion, Splenomegaly, Pulmonary arte... ORPHA:2414
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Decreased liver function, Ventricular septal defect, Overri... OMIM:617021
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Obesity, Decreased body weight, First degree atrioventricular block, Abnorma... ORPHA:589821
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar... ORPHA:1194
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Obesity, Hepatic steatosis, Hypertension, Myocardial infarction OMIM:615703
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest OMIM:618951
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Failure to thrive, Decreased muscle mass, Congestive heart failure, Facial hypotonia, Atrial sept... ORPHA:500533
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Lower limb muscle weakness, Obesity, Palpitations, Rhabdomy... ORPHA:79102
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... OMIM:314400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur... OMIM:620609
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Axial muscle atrophy, Decreased cervical spi... ORPHA:254361
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Failure to thrive, Congestive heart failure OMIM:616045
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Mahvash Disease
Palpitations OMIM:619290
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflow tract obstruction, L... ORPHA:308552
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Glycogen Storage Disease Ii
Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa... OMIM:232300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Mitral regurgitation OMIM:615959
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Atrial... ORPHA:185
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... OMIM:609015
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Syncope, Hepatomegaly, Tachycardia, Small for gestationa... ORPHA:324575
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:367
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... OMIM:618775
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:71212
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy OMIM:161800
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Failure to thrive, Wolff-Parkinson-White syndrome OMIM:618378
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... ORPHA:66634
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Myocarditis ORPHA:3386
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy ORPHA:254913
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower r... OMIM:253250
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Failure to thrive in infancy, ... ORPHA:746
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Tachycardia, Interictal EEG abnormality, Aspiration pneumonia ORPHA:79264
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Diaphragmatic eventration, Generalized amyotrophy... OMIM:616866
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Rett Syndrome
Skeletal muscle atrophy, Abnormal T-wave, Cachexia, EEG abnormality, Prolonged QTc interval OMIM:312750
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Prolonged QT int... ORPHA:358
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Cednik Syndrome
Abnormality of peripheral nerve conduction, Congestive heart failure ORPHA:66631
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Mitral regurgitation, Cardiomyopathy OMIM:212112
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy OMIM:255310
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... ORPHA:465508
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Congestive heart failure, Splenomegaly, Pericarditis ORPHA:163596
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Cardiomyopathy OMIM:606842
Hemochromatosis, Type 4
Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatomegaly OMIM:606069
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:99901
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... OMIM:620294
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... ORPHA:368
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Babesiosis
Hepatic failure, Congestive heart failure, Splenomegaly, Recurrent pharyngitis, Hepatomegaly, Jau... ORPHA:108
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Abnormal heart morphology, Abnormal tricuspid valve morphology, Abnormal intra... ORPHA:485405
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy ORPHA:272
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Failure to thrive, Tetralogy of Fallot, Heart m... ORPHA:3426
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol... OMIM:170390
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Arrhythmia... OMIM:300855
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Postural hypotension with com... ORPHA:85443
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Atrial septal defect, Ventricular septal defect OMIM:601927
Tibial Muscular Dystrophy, Tardive
Cardiomyopathy OMIM:600334
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Tachycardia, Right ventricula... ORPHA:335
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia ORPHA:1666
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Orthostatic Hypotension 1
Atrial fibrillation, Orthostatic hypotension OMIM:223360
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro... OMIM:301500
Stuve-Wiedemann Syndrome 2
Camptodactyly, Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Hydrops Fetalis
Abnormal heart morphology, Pleural effusion, Arrhythmia, Pericardial effusion, Small for gestatio... ORPHA:1041
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Abnormal peric... ORPHA:67
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy OMIM:607155
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal EKG, Arrhythmia, Prolonged QT i... ORPHA:480864
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Gaucher Disease Type 2
Cardiac arrest ORPHA:77260
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Atrial fibr... ORPHA:31826
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... ORPHA:90068
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Severel... OMIM:620646
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia OMIM:617397
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Failure to thrive, Aspiration pneumonia, Ventricula... OMIM:602535
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Failure to thrive, Conges... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Myopathy,... ORPHA:79083
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Cardiomyopathy,... ORPHA:26791
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Infantile Refsum Disease
Failure to thrive, Cardiomyopathy, Arrhythmia, Hepatomegaly, Facial palsy ORPHA:772
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Cap Myopathy
Sinus tachycardia, Reduced systolic function ORPHA:171881
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Myopathy,... ORPHA:2348
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... ORPHA:500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Focal EEG discharges with secondary generalization, Congestive heart failure ORPHA:3077
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Flexion contracture, Camptodactyly of finger, Congestive heart failure ORPHA:261519
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Increased hepatic glycogen conten... OMIM:619259
Congenital Generalized Lipodystrophy
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirr... ORPHA:528
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... ORPHA:93672
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventricula... ORPHA:254892
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Shock, Bradycardia ORPHA:391673
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou... ORPHA:2326
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Left v... ORPHA:365
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Weight loss, Pancreatitis, Myocarditi... ORPHA:188
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi... OMIM:620067
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Subaortic Stenosis-Short Stature Syndrome
Obesity, Biliary tract abnormality, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvul... ORPHA:3191
Leber Optic Atrophy
Arrhythmia OMIM:535000
Gm1-Gangliosidosis, Type I
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive ... OMIM:230500
Congenital Sialidosis Type 2
Abnormal heart morphology, Telangiectasia, Abnormal EKG ORPHA:93400
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Sple... ORPHA:280365
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Abnormal left ventricle morphology, Hypertension, Dilated cardiomyopathy OMIM:300845
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Elevated circulating hepatic transaminase ... ORPHA:100080
Marfan Syndrome
Aortic regurgitation, Spontaneous pneumothorax, Pulmonary artery dilatation, Skeletal muscle atro... ORPHA:558
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal pleura morphology, Abnormal aortic valve mor... ORPHA:3099
Truncus Arteriosus
Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati... ORPHA:3384
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Failure to thrive, Abnormal lung lobation, Hypertrophic cardiomyopathy... OMIM:270400
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia OMIM:616298
Tularemia
Tachycardia ORPHA:3392
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy OMIM:615352
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
D-Glyceric Aciduria
Bradycardia OMIM:220120
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Cardiomyopathy OMIM:301075
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Encephalitis Lethargica
Bradycardia ORPHA:83600
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy, Abnormality of visual evoked po... ORPHA:96
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis ORPHA:99745
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hyper... OMIM:619573
Graves Disease
Weight loss, Congestive heart failure OMIM:275000
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske... ORPHA:682
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Complete atrioventricular canal defec... OMIM:617063
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Dia... ORPHA:423461
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Alpha-Thalassemia
Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, Pleural effusion, Sp... ORPHA:846
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Periton... ORPHA:727
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Oculopharyngodistal Myopathy 1
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Dilated cardiomyopathy OMIM:164310
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Truncal obesity, Failure to thrive in infancy, Pulmonic stenosis ORPHA:529962
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur... OMIM:619355
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri... ORPHA:97287
Mucopolysaccharidosis Type 3
Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Respira... ORPHA:581
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congest... ORPHA:98908
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Large for gestational age, Pancreatic is... ORPHA:263455
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... OMIM:619064
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Congestive heart failure, Abnormal hear... ORPHA:91139
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Marbach-Rustad Progeroid Syndrome
Ventricular septal hypertrophy, Right bundle branch block, Pulmonary insufficiency OMIM:619322
Sarcoidosis
Hepatic failure, Chylothorax, Decreased liver function, Emphysema, Abnormal pleura morphology, Po... ORPHA:797
Dpagt1-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatomegaly, Camptod... ORPHA:86309
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegal... OMIM:309900
Gm1 Gangliosidosis
Failure to thrive, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Aspiratio... ORPHA:354
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation OMIM:619576
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Adult-Onset Cervical Dystonia, Dyt23 Type
Supraventricular arrhythmia ORPHA:420492
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EEG with burst suppressi... OMIM:617713
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E... ORPHA:100082
Refsum Disease
Cardiomyopathy, Heart block ORPHA:773
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Polysplenia, Bundle branch block, Camptodactyly of finger, Splenomegaly, Pancreat... ORPHA:373
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Elevated serum tr... ORPHA:509
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Congestive heart failure, Abnormal heart morphology, Cerebral ischemia, H... ORPHA:137667
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Hepatospleno... ORPHA:99931
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial ... OMIM:617303
Multiple Endocrine Neoplasia Type 1
Hypertension, Hematemesis, Shortened QT interval, Melena ORPHA:652
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure ORPHA:73224
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Amyloidosis, Finnish Type
Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension OMIM:105120
Myopathy, Myofibrillar, 4
Cardiomyopathy OMIM:609452
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Failure to thrive, Decreased liver function, Congestive heart fail... OMIM:608779
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Fail... ORPHA:39812
Erythermalgia, Primary
Palpitations OMIM:133020
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, T... ORPHA:505248
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Heart murmur, Congestive heart failure ORPHA:1054
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Duchenne Muscular Dystrophy
Cardiomyopathy ORPHA:98896
Erdheim-Chester Disease
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Abnormal aortic valv... ORPHA:35687
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Failure to thrive in inf... ORPHA:231226
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Emphysema, Mitral regur... ORPHA:363618
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Undetectable visual evoked potentials, Hypertrophic cardiomyopathy, Tric... OMIM:619051
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Splenomegaly, Congestive heart failure ORPHA:75564
Renal Nutcracker Syndrome
Tachycardia, Syncope, Orthostatic hypotension ORPHA:71273
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Failure to thrive, Mitral regurgitation, Hypertension, Left atrial enlargement... OMIM:614008
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Seckel Syndrome 10
Acute pancreatitis, Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspar... OMIM:617253
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Legionnaires Disease
Hypotension, Hepatitis, Abnormal pleura morphology, Splenomegaly, Arrhythmia, Jaundice, Pancreati... ORPHA:549
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch blo... OMIM:617403
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Tetrasomy 5P
Failure to thrive, Congestive heart failure, Pulmonary arterial hypertension, Aplasia/Hypoplasia ... ORPHA:3309
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Large for gestational age, Arrhythmia, Atrial septal defect, Pulmoni... OMIM:611553
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage OMIM:608836
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy ORPHA:70595
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Bicuspid aortic valve, Muscle hypertrophy of the lower extremities, Prolonged QT interva... ORPHA:1772
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart... ORPHA:579
Martsolf Syndrome 1
Cardiac arrest, Recurrent respiratory infections, Cardiomyopathy, Congestive heart failure OMIM:212720
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Arrhythm... ORPHA:228308
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Failure to thriv... OMIM:601808
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Hepatitis, Shock, Respiratory tract infection, Myositis, Peritonitis, Myo... ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618250
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Small for gestational age, Congestive heart failure OMIM:166210
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Portal fibrosis, Congestive heart ... ORPHA:3260
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis, Obesity OMIM:600430
Mitochondrial Dna-Associated Leigh Syndrome
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction abnormality ORPHA:255210
Beta-Thalassemia Major
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Failure to thrive in inf... ORPHA:231214
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Failure to thrive, Absence of the pulmonary... ORPHA:1600
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dilated cardiomyopathy ORPHA:20
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Carcinoid Syndrome
Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiectasia, Heart mu... ORPHA:100093
Triosephosphate Isomerase Deficiency
Cholelithiasis, Skeletal muscle atrophy, Failure to thrive, Congestive heart failure, Splenomegal... OMIM:615512
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Porphyria Variegata
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:79473
Avian Influenza
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Congestive heart f... ORPHA:454836
Aarskog-Scott Syndrome
Camptodactyly of finger, Congestive heart failure ORPHA:915
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... ORPHA:220393
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Botulism
Arrhythmia ORPHA:1267
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient isch... ORPHA:2038
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Failure to thrive in infancy, Arrhythmia, Weight loss, Recurre... ORPHA:171876
Meconium Aspiration Syndrome
Pulmonary insufficiency, Pulmonary arterial hypertension, Abnormal heart rate variability ORPHA:70588
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Obesity, Mitral regurgitation, Supraventricular tachycardia with an acce... ORPHA:404443
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:100075
Wound Botulism
Cardiac arrest ORPHA:178475
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Obesity, Calcinosis ORPHA:79444
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Kawasaki Disease
Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:2331
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy OMIM:251110
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... ORPHA:171
Foodborne Botulism
Arrhythmia ORPHA:228371
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Elevated circulating hepatic transaminase concentration, Hepatic steat... ORPHA:348
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pleural effusion, S... ORPHA:33226
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Jaundice, Pancreatitis, ... ORPHA:521219
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Torticollis ORPHA:276432
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri... OMIM:252920
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:99413
Mosaic Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:99228
Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:881
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega... ORPHA:85450
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Hepatic failure, E... ORPHA:100078
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, ... ORPHA:1900
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D... ORPHA:90349
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Obesity, Mitral regurgitation, Hepatic steatosis, Ventricular septal defect... ORPHA:254346
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Cardiomyopathy, Atelectasis, Absent muscle fiber merosin, Reduc... ORPHA:258
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Splenomegaly, Syncope, Weight loss, Hepatomegaly, Tachycardia ORPHA:98849
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Werner Syndrome
Skeletal muscle atrophy, Congestive heart failure, Slender build, Pulmonary artery stenosis, Tela... ORPHA:902
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Obesity, Hypertension, Calcinosis ORPHA:79443
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Recurrent pneumonia, Failure to thrive, Congestive heart fail... OMIM:252500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Congestive heart failure, Tricuspid regurgitation, ... ORPHA:508542
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral... ORPHA:1830
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Con... ORPHA:14
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy ORPHA:119
Giant Cell Arteritis
Vasculitis, Epistaxis, Hepatic failure, Double outlet right ventricle with subpulmonary ventricul... ORPHA:397
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent forame... OMIM:620642
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Abnormal heart morphology, Mitral regurgitation, Left ventricular hypertrop... ORPHA:284984
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri... ORPHA:3427
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Failure to thrive, Hypertrophic cardiomyopathy, Tricuspid r... OMIM:617506
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension ORPHA:231580
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Congestive heart failure OMIM:260450
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subco... ORPHA:340
Leigh Syndrome
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Congestive heart failure, Hypertroph... ORPHA:506
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Atria... ORPHA:648
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Vici Syndrome
Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Myopathy, Le... OMIM:242840
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Flexion contracture, Hepatic steatosis, Congestive heart failure OMIM:616271
Alstrom Syndrome
Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentrat... OMIM:203800
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... ORPHA:231222
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Mgat2-Cdg
Failure to thrive, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hypsarrhythm... ORPHA:79329
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... OMIM:256040
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Wolff-Parkinson-White syndrome OMIM:601338
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Sweet Syndrome
Dilated cardiomyopathy, Small vessel vasculitis ORPHA:3243
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect ORPHA:444072
Ivic Syndrome
Arrhythmia ORPHA:2307
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated circulating hepatic transaminase concentration, Type 2 muscle fiber predominance, Failur... OMIM:615471
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cong... OMIM:617156
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Generalized Pustular Psoriasis
Obesity, Overweight, Elevated circulating hepatic transaminase concentration, Congestive heart fa... ORPHA:247353
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Myopathy, Rhabdomyolysis, Hepatic calcification, Arrhythmia, Hep... ORPHA:157
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Agel Amyloidosis
Cardiomyopathy, Respiratory tract infection, Orthostatic hypotension due to autonomic dysfunction... ORPHA:85448
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Geleophysic Dysplasia 1
Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ... OMIM:231050
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:99845
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Palpitations,... ORPHA:100085
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Patent foramen ovale, M... OMIM:617402
Listeriosis
Pneumonia, Arteritis, Liver abscess, Congestive heart failure, Cholecystitis, Rhabdomyolysis, Per... ORPHA:533
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R... OMIM:614437
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatitis, Congestive heart failure, Hepatosplenome... ORPHA:391487
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:607459
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia OMIM:620475
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia, Hy... ORPHA:79276
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy ORPHA:89842
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Weight loss, Suprave... ORPHA:91347
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Atrial septal defect, Patent foramen ovale OMIM:619184
Aceruloplasminemia
Torticollis, Elevated hepatic iron concentration, Abnormal pancreas morphology, Congestive heart ... ORPHA:48818
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Small for gestational age OMIM:614052
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis... OMIM:253200
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension OMIM:615688
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... ORPHA:158687
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Loeys-Dietz Syndrome 3
Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Bicus... OMIM:613795
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice, Hypertension OMIM:603903
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia ORPHA:2959
Cartilage-Hair Hypoplasia
Failure to thrive, Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, EEG abno... ORPHA:175
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Gastrointestinal ... ORPHA:774
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo... ORPHA:79282
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa... OMIM:611174
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Neoplasm of the pancreas, Distal lower ... ORPHA:892
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Chylothorax, Ventricular septal defect OMIM:153400
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Pulmonary artery dilatation, Decreased muscle... OMIM:154700
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure OMIM:181270
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridin... OMIM:309801
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmonary hypoplasia OMIM:620306
Ulnar-Mammary Syndrome
Camptodactyly of finger, Obesity, Ventricular septal defect, Arrhythmia, Aplasia of the pectorali... ORPHA:3138
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... ORPHA:95430
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia ORPHA:261211
Plague
Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Acute infectious pneumonia, Hepatomegaly, Tac... ORPHA:707
Kleefstra Syndrome
Tetralogy of Fallot, Obesity, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Pulmo... ORPHA:261494
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Abnormal heart morphology, Aspiration pneumonia, Obesity, Patent forame... ORPHA:444077
Phakomatosis Pigmentokeratotica
Arrhythmia, Raynaud phenomenon ORPHA:2874
Spinocerebellar Ataxia Type 7
Failure to thrive, Congestive heart failure ORPHA:94147
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Diamond-Blackfan Anemia 1
Failure to thrive, Congestive heart failure, Ventricular septal defect, Atrial septal defect, Sma... OMIM:105650
Degcags Syndrome
Pneumonia, Failure to thrive, Cholestasis, Hepatosplenomegaly, Patent foramen ovale, Ventricular ... OMIM:619488
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Pleuritis, Hypertension, A... ORPHA:900
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Wolff-Parkinson-White syndrome OMIM:191100
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu... ORPHA:90348
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Contractures of the large joints, Cardiomyopathy, A... ORPHA:580
Hennekam-Beemer Syndrome
Pneumonia, Hypotension, Failure to thrive, Camptodactyly of finger, Arrhythmia, Telangiectasia of... ORPHA:2135
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Failure to thrive,... OMIM:619475
Familial Mediterranean Fever
Vasculitis, Acute hepatic failure, Splenomegaly, Arrhythmia, Peritonitis, Pancreatitis, Pleuritis... ORPHA:342
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Failure to thrive, Co... ORPHA:79474
Incontinentia Pigmenti
Congestive heart failure, Camptodactyly of finger, Cerebral ischemia, Telangiectasia of the skin,... ORPHA:464
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Non-small cell lung carcinoma, Mitral valve pro... ORPHA:137605
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Mitral valve prolapse, Wolff-Parkinson-White syndrome, Macroglossia ORPHA:369950
Dermatomyositis
Vasculitis, Elevated circulating hepatic transaminase concentration, Sinus tachycardia, Inflammat... ORPHA:221
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Recurrent upper respiratory tract infections, Cardiomyopathy, Camptodactyly of fing... ORPHA:217085
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Mitral regurgitation, Mitral valve prolapse, Pulmonary arteriovenous mal... OMIM:175050
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Recurrent upper respiratory tract infections, Cardiomyopathy, Camptodactyly of fing... ORPHA:217093
Tuberous Sclerosis 2
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Wolff-Parkinson-White syndrome OMIM:613254
Alg9-Cdg
Abnormal heart morphology, Tricuspid regurgitation, Ventricular septal defect, Atrial septal defe... ORPHA:79328
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arterial rupture, Gastrointestinal hemorrhage, Recurrent pneumonia, Congestive heart failure OMIM:225400
Hallermann-Streiff Syndrome
Abdominal situs inversus, Congestive heart failure ORPHA:2108
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Arrhythmia, Arthrogryposis multiplex congenita, Splenomegaly ORPHA:163746
1P36 Deletion Syndrome
Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Telangiectasia, Abn... ORPHA:1606
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Oculodentodigital Dysplasia
Arrhythmia, Joint contracture of the 5th finger, Atrial septal defect OMIM:164200
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Respiratory tract infection, Arrhythmia, Facial palsy ORPHA:68
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Non... OMIM:607872
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy ORPHA:79408
Holoprosencephaly
Tetralogy of Fallot, Failure to thrive in infancy, Abnormality of the spleen, Abnormal pulmonary ... ORPHA:2162
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Arrhythmia, Atrial septal defect, Ventricular septal defect ORPHA:1519
Costello Syndrome
Failure to thrive, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect,... OMIM:218040
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Cockayne Syndrome B
Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction velocity, Sple... OMIM:133540
Carney Complex
Congestive heart failure, Increased body weight, Cardiac myxoma, Abdominal obesity, Hypertension,... ORPHA:1359
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... ORPHA:906
Oculodentodigital Dysplasia
Arrhythmia, Camptodactyly of finger, Ventricular septal defect ORPHA:2710
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Cockayne Syndrome A
Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction velocity, Sple... OMIM:216400
Parkes Weber Syndrome
Lower limb muscle weakness, High-output congestive heart failure, Bounding pulse, Subarachnoid he... ORPHA:90307
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Choreoacanthocytosis
Dilated cardiomyopathy ORPHA:2388
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatoblastoma, Hepatomega... OMIM:130650
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Cirrhosis, Facial telangiectasia, Cerebral hemorrhage, Fingerpad tel... OMIM:600376
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Myopathy, Dec... ORPHA:800
Alström Syndrome
Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Abnormal coronary artery physiolo... ORPHA:64
Stickler Syndrome
Skeletal muscle atrophy, Slender build, Mitral valve prolapse, Arrhythmia, Cachexia, Macroglossia... ORPHA:828
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Portal hypertension, Ventricular septal defect, A... OMIM:243800
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Polysplenia, Dia... OMIM:312870
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Obesity, Ventricular septal defect OMIM:181450
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Decreased nerve conduction velocity, Mitral valve prolapse, Arrhythmia, Aplasia/Hypopl... ORPHA:285
Viss Syndrome
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... OMIM:619472
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Failure to thrive, Transient ischemic attac... ORPHA:2929
Sudden Infant Death Syndrome
OMIM:272120

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 Scn5a

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 Scn5a.

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

Title Journal IMPC Allele PubMed ID
Nav1.5 in astrocytes plays a sex-specific role in clinical outcomes in a mouse model of multiple sclerosis. Glia (September 2018) Scn5atm1c(EUCOMM)Hmgu Scn5atm1a(EUCOMM)Hmgu 30194875

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Scn5atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Scn5atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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