Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:606685 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... |
ORPHA:66529 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
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 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... |
OMIM:615184 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Muscular Dystrophy, Becker Type |
|
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG |
OMIM:300376 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Mildly elevated creatine kinase, Bradycardia |
OMIM:620265 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Congestive heart failure, Hyperalaninemia, Bradycardia |
OMIM:619048 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Decreased circulating carnitine concentration, Brady... |
OMIM:618235 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... |
OMIM:616299 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... |
OMIM:212138 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... |
OMIM:615373 |
Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
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 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
Timothy Syndrome |
|
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... |
OMIM:601005 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Palpitations, Elevated circulating creatine kinase concentr... |
OMIM:616812 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperalaninemia, Hyperammonemia, Bradycardia |
OMIM:614702 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Glycogen Storage Disease Iv |
|
Abnormal circulating creatine kinase concentration, Portal hypertension, Cardiomyopathy, Bradycardia |
OMIM:232500 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... |
ORPHA:439232 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia |
ORPHA:3299 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration |
OMIM:601369 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... |
OMIM:300614 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, Bradycardia |
OMIM:610015 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... |
OMIM:303110 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... |
OMIM:145600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent fetal circulation, Elevated circulating creatine kinase c... |
OMIM:618775 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Opticocochleodentate Degeneration |
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Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
Atrial Fibrillation, Familial, 14 |
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Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Congenitally Corrected Transposition Of The Great Arteries |
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Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Bradycardia |
OMIM:614498 |
Usher Syndrome Type 1 |
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Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment |
ORPHA:231169 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Bradycardia, Elevated circulating creatine kinase concentration, Prolonged QT interval, Hypertrig... |
OMIM:613327 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Sinus bradycardia |
OMIM:126320 |
Cardiomyopathy, Dilated, 1Y |
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Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
Neuroleptic Malignant Syndrome |
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Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc... |
ORPHA:94093 |
Attrv122I Amyloidosis |
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Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
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Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Brugada Syndrome 4 |
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Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Pendred Syndrome |
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Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... |
ORPHA:705 |
Hyperthyroidism, Familial Gestational |
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Tachycardia |
OMIM:603373 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Bradycardia |
ORPHA:226313 |
Congenital Myopathy 22A, Classic |
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Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia |
OMIM:620351 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Hypokalemia, Tachycardia, Palpitations |
OMIM:188580 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Acitretin/Etretinate Embryopathy |
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Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Congenital Disorder Of Glycosylation, Type Im |
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Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
D-Glyceric Aciduria |
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Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia |
OMIM:220120 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia |
ORPHA:90673 |
Pseudo-Torch Syndrome 2 |
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Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Necrotizing Enterocolitis |
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Shock, Hypotension, Hyponatremia, Bradycardia |
ORPHA:391673 |
Glossopharyngeal Neuralgia |
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Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Branchiogenic Deafness Syndrome |
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Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... |
ORPHA:50815 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hereditary Pulmonary Alveolar Proteinosis |
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Tachycardia, Abnormal circulating protein concentration, Elevated circulating carcinoembryonic an... |
ORPHA:264675 |
Peripartum Cardiomyopathy |
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Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Coronary Arterial Fistula |
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Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Hypotension, Cystathioninemia, Hypomethioninemia, Pulmonary arterial hypertension, Hyperhomocysti... |
OMIM:277400 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Tachycardia, Increased total bilirubin, Congestive heart failure |
ORPHA:90037 |
Sepsis In Premature Infants |
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Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Bradycardia |
ORPHA:565624 |
Lujo Hemorrhagic Fever |
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Hypotension, Shock, Elevated circulating C-reactive protein concentration, Bradycardia, Myocardit... |
ORPHA:319213 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... |
ORPHA:90674 |
Bor Syndrome |
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Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... |
ORPHA:107 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo... |
ORPHA:26793 |
Encephalitis Lethargica |
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Bradycardia |
ORPHA:83600 |
Marburg Hemorrhagic Fever |
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Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... |
ORPHA:99826 |
Crimean-Congo Hemorrhagic Fever |
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Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
Branchiootorenal Syndrome 1 |
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Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... |
OMIM:113650 |
Sheehan Syndrome |
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Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Tropical Endomyocardial Fibrosis |
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Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Tachycardia |
OMIM:601887 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Hypokalemia, Tachycardia |
OMIM:613239 |
Yellow Fever |
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Shock, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentration,... |
ORPHA:99829 |
Mohr-Tranebjaerg Syndrome |
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Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... |
ORPHA:52368 |
Proximal Spinal Muscular Atrophy |
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Bradycardia |
ORPHA:70 |
Hydroxykynureninuria |
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Tachycardia, Hypotension, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
Complete Atrioventricular Septal Defect |
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Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia |
OMIM:218700 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
Woolly Hair Nevus |
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Enlarged vestibular aqueduct |
ORPHA:79414 |
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
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Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment |
OMIM:620469 |
Waardenburg Syndrome, Type 2E |
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Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... |
OMIM:611584 |
Crouzon Syndrome |
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Narrow internal auditory canal, Conductive hearing impairment, Hearing impairment |
ORPHA:207 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Sinus bradycardia |
OMIM:618397 |
Gorham-Stout Disease |
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Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Pheochromocytoma |
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Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
Distal Deletion 10Q |
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Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... |
ORPHA:96148 |
Bohring-Opitz Syndrome |
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Bradycardia |
ORPHA:97297 |
7Q31 Microdeletion Syndrome |
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Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... |
ORPHA:251061 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Narrow internal auditory canal, Synotia |
ORPHA:990 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Bradycardia |
ORPHA:226307 |
3-Methylglutaconic Aciduria, Type Viii |
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Bradycardia |
OMIM:617248 |
Saethre-Chotzen Syndrome |
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Low-set ears, Conductive hearing impairment, Hearing impairment, Prominent crus of helix, Narrow ... |
ORPHA:794 |
Xq21 Microdeletion Syndrome |
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Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Sensorineural... |
ORPHA:1435 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia |
OMIM:614437 |
Isotretinoin-Like Syndrome |
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Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... |
ORPHA:2306 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Sinus bradycardia |
OMIM:619482 |
Duane Retraction Syndrome |
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Hearing impairment, Narrow internal auditory canal, Stenosis of the external auditory canal, Sens... |
ORPHA:233 |
Schinzel-Giedion Syndrome |
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Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, Abnormality... |
ORPHA:798 |
Tick-Borne Encephalitis |
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Tinnitus, Vertigo, Hearing impairment, Abnormality of the vestibular nerve |
ORPHA:297 |
Treacher-Collins Syndrome |
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Narrow internal auditory canal, Abnormality of the middle ear, Conductive hearing impairment, Mic... |
ORPHA:861 |
Holt-Oram Syndrome |
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Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... |
OMIM:142900 |
Cardiospondylocarpofacial Syndrome |
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Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... |
OMIM:157800 |
Distal Renal Tubular Acidosis |
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Enlarged vestibular aqueduct, Sensorineural hearing impairment |
ORPHA:18 |
Norrie Disease |
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Abnormal helix morphology, Sensorineural hearing impairment, Protruding ear, Macrotia, Abnormal c... |
ORPHA:649 |
Floating-Harbor Syndrome |
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Low-set ears, Conductive hearing impairment, Cochlear malformation |
ORPHA:2044 |
Proteus Syndrome |
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Low-set ears, Exostosis of the external auditory canal, Narrow internal auditory canal, Macrotia |
ORPHA:744 |