| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... |
OMIM:613690 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
| Erythrocytosis, Familial, 2 |
|
Failure to thrive, Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red ... |
OMIM:263400 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... |
OMIM:132900 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Short stature |
ORPHA:1705 |
| Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Analbuminemia |
|
Lipodystrophy, Patent ductus arteriosus, Hypotension |
OMIM:616000 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
| Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
| Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
| Chromosome 5Q12 Deletion Syndrome |
|
Growth delay, Decreased body mass index, Hypotension |
OMIM:615668 |
| Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
| Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276556 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Perry Syndrome |
|
Weight loss, Hypotension |
ORPHA:178509 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia |
OMIM:300952 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... |
ORPHA:98850 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276575 |
| Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276580 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
| Paragangliomas 1 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:168000 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Failure to thrive, Hypotension |
ORPHA:556037 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
| Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Failure to thrive, Hypotension |
ORPHA:556030 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Dengue Fever |
|
Cerebral hemorrhage, Leukopenia, Hypotension, Gastrointestinal hemorrhage, Thrombocytopenia, Epis... |
ORPHA:99828 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Failure to thrive, Anomalous pulmonary venous return, Left ventricular outflow tra... |
ORPHA:860 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Growth delay, Hypotension |
OMIM:203400 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemo... |
ORPHA:444463 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Hypochromic anemia, Pulmonic stenosis, Mitral re... |
ORPHA:99147 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Systemic Capillary Leak Syndrome |
|
Leukocytosis, Arrhythmia, Hypotension, Myocarditis, Weight loss, Pericarditis |
ORPHA:188 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Tachycardia, Hypotension, Anemia, Thrombocytopenia, Epist... |
ORPHA:91547 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot |
OMIM:615779 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Abnormal descending aorta morphology, Left ventricular outflow tract obstructi... |
ORPHA:99050 |
| Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... |
OMIM:613426 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Hypotension, Shock, Neutropenia, Thrombocytopenia, Brady... |
ORPHA:391673 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Arrhythmia, Abnormal aortic morphology |
ORPHA:3222 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay |
OMIM:619164 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Leukopenia, Myocarditis, Abnormal macrophage morphology, Hypotension, Neutropenia, ... |
ORPHA:292 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension, Short stature |
OMIM:618480 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... |
OMIM:540000 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmon... |
OMIM:618780 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hypotension |
OMIM:264350 |
| Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Shock, Vasculitis |
ORPHA:70578 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Pulmonic stenosis, Coa... |
OMIM:613854 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Sneddon Syndrome |
|
Lymphopenia, Cerebral hemorrhage, Stroke, Atrophic scars, Hypertension, Ischemic stroke |
OMIM:182410 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hypotension |
OMIM:177735 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
| Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Hypotension, Gastrointesti... |
ORPHA:79456 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
| Legionnaires Disease |
|
Lymphopenia, Cellulitis, Splenomegaly, Arrhythmia, Myocarditis, Hypotension, Pericarditis |
ORPHA:549 |
| Neuroendocrine Tumor Of The Rectum |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... |
ORPHA:100082 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
| Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia, Premature ventricular contraction, Right bundle branch block |
OMIM:602668 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukocytosis, Leukopenia, Hypotension, Shock |
ORPHA:36238 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Short stature, Tetralogy of Fallot, Abnormality of the pulmonary... |
ORPHA:1166 |
| Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Abnormal aortic arch morphol... |
ORPHA:449400 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... |
ORPHA:137675 |
| Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension |
ORPHA:79455 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... |
ORPHA:26793 |
| Familial Hypoaldosteronism |
|
Failure to thrive, Orthostatic hypotension, Hypovolemia, Hypotension, Growth delay |
ORPHA:427 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Tricuspid Atresia |
|
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... |
ORPHA:1209 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Growth delay, Hypotension |
ORPHA:95619 |
| Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Hypotension, Obesity, Intrauterine growth retardation, Abnormal den... |
ORPHA:439822 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... |
ORPHA:97287 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
| Sepsis In Premature Infants |
|
Decreased body weight, Leukocytosis, Splenomegaly, Small for gestational age, Tachycardia, Hypote... |
ORPHA:90051 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Autoimmune thrombocytopenia, Decreased proportion of class-switched memory B cells, ... |
OMIM:619846 |
| Paragangliomas 4 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:115310 |
| Mastocytosis |
|
Telangiectasia of the skin, Splenomegaly, Arrhythmia, Hypotension, Mastocytosis, Chronic leukemia... |
ORPHA:98292 |
| Neuroendocrine Tumor Of Stomach |
|
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... |
ORPHA:100075 |
| Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension |
ORPHA:139411 |
| Whipple Disease |
|
Splenomegaly, Cachexia, Myocarditis, Pericarditis, Hypotension, Myocardial infarction, Gastrointe... |
ORPHA:3452 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Stroke, Vacuolated lymphocytes, Precocious atherosclerosis, Hypovolemia, Hepat... |
ORPHA:275761 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Transposition of the great arteries, Patent ductus arteriosus, Coarctation of aorta, Truncus arte... |
OMIM:612474 |
| Ethylene Glycol Poisoning |
|
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... |
ORPHA:31826 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Mucoid extracellular matrix accumulation, Aortic dissection, Hernia, Aortic aneurysm, Cigarette-p... |
OMIM:130090 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100077 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hypotension, Thrombocytosis, Hypertension, Weight loss |
ORPHA:134 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
| Meningococcal Meningitis |
|
Shock, Stroke, Hypotension |
ORPHA:33475 |
| Congenital Hypothyroidism |
|
Short stature, Arrhythmia, Hypotension, Umbilical hernia, Hypertension |
ORPHA:442 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... |
ORPHA:3092 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Hypotension, Hemolytic anemia, Decreased mean corpusc... |
ORPHA:244242 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Angina pectoris, Anomalous pulmonary venous return, Atrial arrhyth... |
ORPHA:1330 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Cellulitis, Abscess, Tachycardia, Myocarditis, Hypotension... |
ORPHA:36234 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hypotension, Abnormal l... |
ORPHA:293978 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Syncope |
ORPHA:71273 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Short stature, Camptodactyly of finger, Arrhythmia... |
ORPHA:2135 |
| Scrub Typhus |
|
Hypotension, Myocarditis, Splenomegaly |
ORPHA:83317 |
| Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock |
ORPHA:173 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Cirrhotic Cardiomyopathy |
|
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... |
ORPHA:57777 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Immunodeficiency 31C |
|
Lymphopenia, Short stature, Delayed puberty, Autoimmune hemolytic anemia, Growth delay |
OMIM:614162 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension |
OMIM:223900 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Inguinal hernia, Coarctation of aorta, Pulmonary arterial hypertension, Patent... |
OMIM:614857 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Stroke, Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hypotension, ... |
ORPHA:95409 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
| Colchicine Poisoning |
|
Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive he... |
ORPHA:31824 |
| Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... |
ORPHA:423 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Leukopenia, Hypotension, Thrombocytosis, Dilated cardiomyopathy, Weight loss, Anemi... |
ORPHA:20 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
| Gitelman Syndrome |
|
Failure to thrive, Chondrocalcinosis, Palpitations, Hypotension, Ventricular tachycardia, Delayed... |
OMIM:263800 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Orthostatic hypotension, Eosinophilia, Normocytic anemia, Hypotension, Macrocy... |
ORPHA:199299 |
| Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased body weight, Hematemesis, Leukocytosis, Intracranial hemorrhage, Palpitations, ... |
ORPHA:340 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Coarctation of aorta, Telangiectasia, Thrombocytopenia |
ORPHA:101028 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Tetralogy of Fallot, Supravalvular aortic stenosis |
OMIM:618624 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... |
OMIM:217095 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukocytosis, Leukopenia, Myocarditis, Hypotension, Shock, Subconjunctival hemorrhag... |
ORPHA:319213 |
| Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
| Aorta Coarctation |
|
Stroke, Coarctation of the descending aortic arch, Tetralogy of Fallot, Pulmonary arterial hypert... |
ORPHA:1457 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Growth delay... |
OMIM:619510 |
| Double Outlet Right Ventricle |
|
Pulmonic stenosis, Tachycardia, Heart murmur |
ORPHA:3426 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Hy... |
OMIM:616878 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... |
ORPHA:94093 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... |
OMIM:115197 |
| Schimke Immuno-Osseous Dysplasia |
|
Stroke, Abnormal proportion of naive CD4 T cells, Disproportionate short-trunk short stature, Tra... |
ORPHA:1830 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Hypertension |
ORPHA:1764 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Pancytopenia,... |
ORPHA:99827 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
| Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
| Cardiac Diverticulum |
|
Angina pectoris, Tricuspid stenosis, Omphalocele, Umbilical hernia, Palpitations, Arrhythmia, Tet... |
ORPHA:1686 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus,... |
OMIM:618164 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... |
OMIM:618986 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Failure to thrive, Coarctation of aorta |
OMIM:614300 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Hypertension, Short stature, Connective tissue nevi, Atypical scarring of sk... |
ORPHA:1306 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Pulmonary arterial hypertension, Abort... |
OMIM:614921 |
| Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, Short stature, B lymphocytopenia, Chronic lymphatic leukemia, Decrease... |
OMIM:616005 |
| 8P23.1 Microdeletion Syndrome |
|
Growth delay, Congenital diaphragmatic hernia, Short stature, Tetralogy of Fallot, Weight loss, P... |
ORPHA:251071 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Fl... |
OMIM:208050 |
| Hepatocellular Carcinoma |
|
Budd-Chiari syndrome, Polycythemia, Venous insufficiency, Hypotension, Thrombocytosis, Weight los... |
ORPHA:88673 |
| Transaldolase Deficiency |
|
Telangiectasia, Failure to thrive, Splenomegaly, Small for gestational age, Hepatosplenomegaly, C... |
OMIM:606003 |
| Familial Bicuspid Aortic Valve |
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Aortic valve stenosis, Thoracic aorta calcification, Ascending aortic dissection, Coarctation of ... |
ORPHA:402075 |
| 16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261243 |
| Scimitar Syndrome |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Left-to-right shunt, Left super... |
ORPHA:185 |
| Duodenal Neuroendocrine Tumor |
|
Melena, Increased hematocrit, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... |
ORPHA:100076 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss, Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
| Schimke Immunoosseous Dysplasia |
|
Growth delay, Transient ischemic attack, Lymphopenia, Stroke, Small for gestational age, Cerebral... |
OMIM:242900 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus |
ORPHA:1455 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cardiomyopathy, Neutropenia |
OMIM:604250 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Intermittent claudication, Bl... |
ORPHA:2299 |
| Catel-Manzke Syndrome |
|
Inguinal hernia, Coarctation of aorta, Camptodactyly, Umbilical hernia, Postnatal growth retardat... |
OMIM:616145 |
| Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... |
ORPHA:980 |
| Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Increased intraabdominal fat, Hypotension |
ORPHA:91349 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
| Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Failure to thrive, Mucosal telangiectasiae, Lymphopenia, Short statur... |
ORPHA:100 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Aortic valve stenosis, Anomalous branches of internal carotid artery, Short stature, Mitr... |
ORPHA:363705 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Splenomegaly, Erythroid hypoplasia, Intermittent thrombocytopenia, Patent ductus arteriosus, Anem... |
OMIM:612541 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:300257 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Supraventricular tachycardia, Tricuspid regurgitati... |
ORPHA:97214 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Anemia, Hypotension |
OMIM:174000 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Short stature |
OMIM:615502 |
| Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia, Pulmonary artery stenosis, Umbilical hernia |
OMIM:617237 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... |
OMIM:242700 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Hypovolemia, Leukopenia, Tachycardia, Abnormal lymphocyte morphology, Pericarditis, ... |
ORPHA:99826 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Premature arteriosclerosis, Peripheral arterial stenosis, Abnormal left ventricu... |
ORPHA:391665 |
| Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Hypotension |
ORPHA:95613 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Lymphopenia, Tricuspid regurgitation, Short stature, Leukopenia, B lymp... |
ORPHA:508542 |
| Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal aortic morphology |
ORPHA:3405 |
| Poliomyelitis |
|
Hypertension, Hypotension, Hypovolemic shock |
ORPHA:2912 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Intrauterine growth retardati... |
ORPHA:3384 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Paroxysmal supraventricular tachycardia, Bradycardia |
OMIM:601375 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Myofibrillar Myopathy 11 |
|
Overweight, Coarctation of aorta |
OMIM:619178 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
| Alexander Disease |
|
Hypertension, Sudden cardiac death, Failure to thrive, Hypotension |
ORPHA:58 |
| Mullegama-Klein-Martinez Syndrome |
|
Failure to thrive, Short stature, Congenital diaphragmatic hernia, Coarctation of aorta |
OMIM:301022 |
| Right Atrial Isomerism |
|
Inguinal hernia, Pulmonic stenosis, Tetralogy of Fallot, Pulmonary artery atresia, Total anomalou... |
OMIM:208530 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arter... |
OMIM:175050 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
