| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Ventricular fibrillation, Tachycardia, Syncope |
OMIM:603829 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... |
OMIM:604772 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... |
OMIM:613485 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Bradycardia, Ventricular tachycardia |
OMIM:611938 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Syncope, Prolonged QT interval, Ventricular tachycardia |
OMIM:614021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... |
OMIM:611528 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia |
OMIM:612124 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... |
ORPHA:45453 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... |
OMIM:615441 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... |
OMIM:610193 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation |
OMIM:617280 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia |
OMIM:236800 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... |
OMIM:614954 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy |
OMIM:107970 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... |
OMIM:613838 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure |
OMIM:145500 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function |
OMIM:609909 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... |
OMIM:608758 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... |
ORPHA:45452 |
| Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
| Wolff-Parkinson-White Syndrome |
|
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... |
OMIM:194200 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Cardiomyopathy, Ventricular tachycardia |
OMIM:613873 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... |
OMIM:609621 |
| Atrial Fibrillation, Familial, 4 |
|
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... |
OMIM:611493 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope |
OMIM:600919 |
| Immunodeficiency 19 |
|
Lymphopenia, Failure to thrive |
OMIM:615617 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Ventricular extrasystoles, Tachycardia, Syncope |
OMIM:192445 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... |
ORPHA:90064 |
| Atrial Standstill |
|
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... |
ORPHA:1344 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... |
ORPHA:99105 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... |
OMIM:610476 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... |
OMIM:612158 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:220400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... |
OMIM:614022 |
| Short Qt Syndrome 1 |
|
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... |
OMIM:609620 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:613172 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension |
OMIM:611489 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613695 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... |
OMIM:108770 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:192500 |
| Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
| Long Qt Syndrome 9 |
|
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest |
OMIM:611818 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... |
ORPHA:300751 |
| Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope |
ORPHA:871 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans |
OMIM:618782 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... |
OMIM:135580 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... |
OMIM:616201 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Short stature |
ORPHA:1705 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Tachycardia, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... |
OMIM:115000 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Aortic regurgitation, Patent ductus arteriosus, Posterior cerebral a... |
OMIM:132900 |
| Long Qt Syndrome 12 |
|
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope |
OMIM:612955 |
| Analbuminemia |
|
Hypotension, Lipodystrophy, Patent ductus arteriosus |
OMIM:616000 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... |
OMIM:600996 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... |
ORPHA:3400 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia |
OMIM:145600 |
| Long Qt Syndrome 14 |
|
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Brugada Syndrome 3 |
|
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... |
OMIM:611875 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... |
OMIM:171420 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia |
OMIM:605676 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... |
OMIM:615373 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Obesity |
ORPHA:369873 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Patent ductu... |
ORPHA:229 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:612347 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... |
OMIM:615436 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... |
ORPHA:95459 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia |
OMIM:613239 |
| Naxos Disease |
|
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... |
ORPHA:34217 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... |
OMIM:611788 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... |
OMIM:115200 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Brugada Syndrome 6 |
|
Ventricular fibrillation, Cardiac arrest, ST segment elevation |
OMIM:613119 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia |
ORPHA:79155 |
| Paragangliomas 3 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy |
OMIM:604401 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... |
OMIM:263400 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:601493 |
| Peripartum Cardiomyopathy |
|
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... |
ORPHA:563 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis |
OMIM:617222 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
| Long Qt Syndrome 10 |
|
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... |
OMIM:611819 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... |
OMIM:615897 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles |
OMIM:612956 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276556 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval |
OMIM:612240 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... |
ORPHA:263297 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... |
OMIM:611777 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Arrhythmia, Cardiomyopathy |
OMIM:614676 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation |
OMIM:615770 |
| Snakebite Envenomation |
|
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... |
ORPHA:449285 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Obesity, Decreased QR... |
ORPHA:66529 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Decreased body mass index, Growth delay |
OMIM:615668 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276575 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Paragangliomas 1 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... |
OMIM:212138 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276580 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... |
OMIM:608751 |
| Acquired Methemoglobinemia |
|
Palpitations, Arrhythmia, Tachycardia, Syncope |
ORPHA:464453 |
| Romano-Ward Syndrome |
|
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... |
ORPHA:101016 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension |
OMIM:613870 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... |
ORPHA:98850 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Failure to thrive, Postnatal growth retardation, Orthostatic hypotension |
ORPHA:556037 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1345 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
| Sinus Node Disease And Myopia |
|
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome |
OMIM:182190 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... |
OMIM:601419 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
| Familial Dilated Cardiomyopathy |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... |
ORPHA:217607 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
| Naxos Disease |
|
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... |
OMIM:601214 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia |
OMIM:300952 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Leukemia, Gastrointestinal hemorrhage, Cutaneous mastocytosis |
ORPHA:79456 |
| Mercury Poisoning |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:330021 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Failure to thrive, Postnatal growth retardation, Orthostatic hypotension |
ORPHA:556030 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... |
ORPHA:231160 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension |
OMIM:615378 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak |
ORPHA:542323 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... |
OMIM:609040 |
| Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Weight loss, Normocytic ... |
ORPHA:98849 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... |
OMIM:163800 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Growth delay, Failure to thrive |
OMIM:203400 |
| Cardiogenic Shock |
|
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... |
ORPHA:97292 |
| Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
| Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... |
ORPHA:99103 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Cerebral hemorrhage, Leuko... |
ORPHA:99828 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... |
ORPHA:1329 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Aortic valve stenosis, Coarctation of aorta |
OMIM:615779 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Atrial Standstill 2 |
|
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
| Pheochromocytoma |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... |
OMIM:171300 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia |
OMIM:602668 |
| Systemic Capillary Leak Syndrome |
|
Arrhythmia, Pericarditis, Leukocytosis, Hypotension, Weight loss, Myocarditis |
ORPHA:188 |
| Jervell And Lange-Nielsen Syndrome |
|
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope |
ORPHA:90647 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Hypotension, Neutropenia, Thrombocytopenia, Small for gestational age, Shock, Brady... |
ORPHA:391673 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... |
OMIM:617514 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation |
OMIM:614049 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation |
OMIM:612201 |
| Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Hypertension |
ORPHA:3222 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Abnormal macrophage morphology, Hypotension, Neutropenia, Thrombocytopenia, Anemia,... |
ORPHA:292 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... |
OMIM:615344 |
| Relapsing Fever |
|
Leukocytosis, Hypotension, Epistaxis, Thrombocytopenia, Tachycardia, Anemia, Leukopenia, Neutroph... |
ORPHA:91547 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Pulmonary artery atres... |
OMIM:618780 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, Growth delay, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension, Short stature |
OMIM:618480 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hypotension, Failure to thrive |
OMIM:264350 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, Bundle branch block, ST segment elevation |
OMIM:612838 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Aborted sudden cardiac death, Tachycardia, Dilated cardiomyopathy |
OMIM:614921 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Neuroendocrine Tumor Of The Colon |
|
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Weight los... |
ORPHA:100080 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, B lymphocytopenia, Failure to thrive |
ORPHA:277 |
| Serotonin Syndrome |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:43116 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy |
OMIM:261740 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Failure to thrive |
OMIM:177735 |
| Acquired Von Willebrand Syndrome |
|
Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracra... |
ORPHA:99147 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection |
OMIM:616166 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Weight loss, Thoracic aortic aneurysm, Hypereosinophilia, Abnorm... |
ORPHA:449400 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Pulmonic stenosis, Doubl... |
OMIM:613854 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Vasculitis, Shock |
ORPHA:70578 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Patent ductus arteriosus, Abnormal left ventricular function, Aortic root aneurysm, Transient isc... |
ORPHA:91387 |
| Legionnaires Disease |
|
Arrhythmia, Pericarditis, Cellulitis, Hypotension, Lymphopenia, Splenomegaly, Myocarditis |
ORPHA:549 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Short stature, Congenital diaphragmatic hernia, Abnormality of the pu... |
ORPHA:1166 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest |
ORPHA:49827 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... |
ORPHA:137675 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
| Neuroendocrine Tumor Of The Rectum |
|
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... |
ORPHA:100082 |
| Hemorrhagic Fever-Renal Syndrome |
|
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Leu... |
ORPHA:340 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia |
ORPHA:159 |
| Cardiomyopathy, Dilated, 1S |
|
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Congestive heart fa... |
OMIM:613426 |
| Paragangliomas 4 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... |
ORPHA:1209 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Growth delay, Failure to thrive |
ORPHA:427 |
| Carney Triad |
|
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage |
ORPHA:139411 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... |
ORPHA:26793 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension, Growth delay, Delayed puberty |
ORPHA:95619 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Bradycardia |
OMIM:614653 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Hypotension, Postnatal growth retardation, Intrauterine growth... |
ORPHA:439822 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Bronchial Neuroendocrine Tumor |
|
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation,... |
ORPHA:97287 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukocytosis, Leukopenia, Shock, Neutrophilia |
ORPHA:36238 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... |
ORPHA:330001 |
| Sepsis In Premature Infants |
|
Leukocytosis, Hypotension, Neutropenia, Decreased body weight, Thrombocytopenia, Tachycardia, Sma... |
ORPHA:90051 |
| Ethylene Glycol Poisoning |
|
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... |
ORPHA:31826 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Cigarette-paper scars, Mucoid extracellular matrix accumulation, Hernia, Aortic dissection, Aorti... |
OMIM:130090 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Ebstein Anomaly |
|
Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden cardiac death, Right bu... |
OMIM:224700 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tract obstruction, Aortic val... |
OMIM:614980 |
| Cocaine Intoxication |
|
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... |
ORPHA:90068 |
| Mastocytosis |
|
Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the ski... |
ORPHA:98292 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... |
OMIM:615518 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Patent ductus arteriosus, Transposition of the great arteries, Coarctation of... |
OMIM:612474 |
| Whipple Disease |
|
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Myocardial infarction, Splenomegaly, Cach... |
ORPHA:3452 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... |
ORPHA:75565 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Palpitations, Cardiogenic shock, Arrhythmia, Right ventricular failure, H... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Iron deficiency anemia, Palpitations, Cardiogenic shock, Arrhythmia, Right ventricular failure, H... |
ORPHA:100077 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hypotension, Hypertension, Weight loss |
ORPHA:134 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta |
OMIM:614823 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Renal Nutcracker Syndrome |
|
Tachycardia, Orthostatic hypotension, Syncope |
ORPHA:71273 |
| Congenital Hypothyroidism |
|
Arrhythmia, Hypotension, Hypertension, Umbilical hernia, Short stature |
ORPHA:442 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Arrhythmia, Hypotension, Telangiectasia of the skin, Short stature, Fail... |
ORPHA:2135 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hypotension, Abnormal lymphocyte morpholog... |
ORPHA:293978 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... |
ORPHA:216694 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Hypovolemia, Hypotension, Coronary artery atheros... |
ORPHA:275761 |
| Scrub Typhus |
|
Hypotension, Myocarditis, Splenomegaly |
ORPHA:83317 |
| Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Hypotension, Myocarditis, Increased circulating metamyelocyte count, Thrombocytopenia... |
ORPHA:36234 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Tachycardia, Orthostatic hypotension |
OMIM:223900 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia |
OMIM:613327 |
| Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Palpitations, Cardiogenic shock, Right ventricular failure, Hematemesis, ... |
ORPHA:100075 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia, Growth delay, Delayed puberty, Short stature |
OMIM:614162 |
| Double Outlet Right Ventricle |
|
Pulmonic stenosis, Heart murmur, Tachycardia |
ORPHA:3426 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Patent ductus arteriosus, Neutropen... |
OMIM:612541 |
| Cholera |
|
Hypotension, Tachycardia, Hypovolemic shock |
ORPHA:173 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Partial Atrioventricular Septal Defect |
|
Palpitations, Anomalous pulmonary venous return, Angina pectoris, Atrial flutter, Mitral regurgit... |
ORPHA:1330 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Thrombocytosis, Leukocytosis, Hypotension, Weight loss, Cardiac arrest, Anemia, Leukopenia, Dilat... |
ORPHA:20 |
| Gitelman Syndrome |
|
Palpitations, Chondrocalcinosis, Hypotension, Growth delay, Ventricular tachycardia, Delayed pube... |
OMIM:263800 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia |
ORPHA:261102 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Neutropenia, Thrombocytopenia, Inguinal hernia, Anemia, Coarctation of aorta, Pulmo... |
OMIM:614857 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Coarctation of aorta, Hepatosplenomegaly, Telangiectasia |
ORPHA:101028 |
| Colchicine Poisoning |
|
Cardiogenic shock, Arrhythmia, Hypovolemia, Leukocytosis, Hypotension, Congestive heart failure, ... |
ORPHA:31824 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension, Weight loss, Normocytic anemia, Failure to thrive, Eosinoph... |
ORPHA:199299 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... |
ORPHA:169154 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Coarctati... |
OMIM:217095 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
| Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen... |
ORPHA:244242 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Neuroleptic Malignant Syndrome |
|
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Brad... |
ORPHA:94093 |
| Scorpion Envenomation |
|
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... |
ORPHA:466677 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Ventricular extrasystoles, Ventricular tachycardia, High-output con... |
ORPHA:423 |
| Familial Dysautonomia |
|
Hypertension, Tachycardia, Orthostatic hypotension |
ORPHA:1764 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
| Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension |
ORPHA:178478 |
| Porphyria Variegata |
|
Tachycardia, Hypertension |
ORPHA:79473 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope |
OMIM:616812 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Prolonged QTc interval, Torsad... |
OMIM:616878 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Supravalvular aortic stenosis, Tetralogy of Fallot, Lymphopenia |
OMIM:618624 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
T lymphocytopenia, Monocytopenia, Cellulitis, Lymphopenia, Abnormally low T cell receptor excisio... |
OMIM:618986 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal aortic morphology, Growth delay, Patent ductus arteriosus, Weight loss, Intrauterine gro... |
ORPHA:251071 |
| Transaldolase Deficiency |
|
Patent ductus arteriosus, Pancytopenia, Thrombocytopenia, Splenomegaly, Small for gestational age... |
OMIM:606003 |
| Buschke-Ollendorff Syndrome |
|
Atypical scarring of skin, Abnormal aortic morphology, Flexion contracture, Connective tissue nev... |
ORPHA:1306 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double outlet right ventricle, Coa... |
OMIM:618164 |
| Meningococcal Meningitis |
|
Hypotension, Shock |
ORPHA:33475 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Periventricular Nodular Heterotopia |
|
Aortic aneurysm, Hernia, Patent ductus arteriosus, Aortic regurgitation |
ORPHA:98892 |
| Familial Bicuspid Aortic Valve |
|
Thoracic aorta calcification, Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart mu... |
ORPHA:402075 |
| Schimke Immunoosseous Dysplasia |
|
Arteriosclerosis, Lymphopenia, Neutropenia, Hypertension, Thrombocytopenia, Abnormal T cell morph... |
OMIM:242900 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Failure to thrive, Coarctation of aorta |
OMIM:614300 |
| Autosomal Dominant Cutis Laxa |
|
Umbilical hernia, Pulmonic stenosis, Inguinal hernia, Hernia, Aortic aneurysm |
ORPHA:90348 |
| Schimke Immuno-Osseous Dysplasia |
|
Arteriosclerosis of small cerebral arteries, Ischemic stroke, Abnormal proportion of naive CD4 T ... |
ORPHA:1830 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Weight loss, Normocytic anemia, Myocardial inf... |
ORPHA:95409 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
| Aapoaiv Amyloidosis |
|
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... |
ORPHA:439232 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Cardiomyopathy, Neutropenia, Anemia |
OMIM:604250 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hypertension, Thoracic... |
OMIM:613834 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm |
ORPHA:1455 |
| Yellow Fever |
|
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:99829 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, Aortic tortuosity, Ischemic stroke, Aortic regurgitation, Generalized arterial tor... |
OMIM:208050 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Failure to thrive, Weight loss, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Duodenal Neuroendocrine Tumor |
|
Iron deficiency anemia, Palpitations, Cardiogenic shock, Increased hematocrit, Arrhythmia, Right ... |
ORPHA:100076 |
| Catel-Manzke Syndrome |
|
Camptodactyly, Coarctation of aorta, Umbilical hernia, Postnatal growth retardation, Inguinal her... |
OMIM:616145 |
| Aorta Coarctation |
|
Patent ductus arteriosus, Coarctation of the descending aortic arch, Hypoplastic aortic arch, Cor... |
ORPHA:1457 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Ogden Syndrome |
|
Arrhythmia, Ventricular extrasystoles, Ventricular tachycardia, Supraventricular tachycardia, Tor... |
OMIM:300855 |
| Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
| Hepatocellular Carcinoma |
|
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Budd-Chiari syndrome, Weight loss... |
ORPHA:88673 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Telangiectasia of the skin, Delayed puberty, Mucosal telangiectasiae, Short stature,... |
ORPHA:100 |
| Mass Syndrome |
|
Aortic aneurysm |
OMIM:604308 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Increased intraabdominal fat, Anemia of inadequate production |
ORPHA:91349 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypotension, Hypertension, Anemia |
OMIM:174000 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Anomalous pulmonary venous re... |
ORPHA:185 |
| Immunodeficiency 36 |
|
Lymphopenia, Growth delay, Chronic lymphatic leukemia, Short stature, Splenomegaly |
OMIM:616005 |
| Acute Intermittent Porphyria |
|
Tachycardia, Hypertension |
ORPHA:79276 |
| Timothy Syndrome |
|
Bradycardia, Prolonged QT interval |
OMIM:601005 |
| Homozygous Familial Hypercholesterolemia |
|
Calcification of the aorta, Premature coronary artery atherosclerosis, Coronary artery aneurysm, ... |
ORPHA:391665 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, P... |
ORPHA:3384 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... |
OMIM:617780 |
| Immunodeficiency 49 |
|
Lymphopenia, Eosinophilia, Umbilical hernia, Pulmonary artery stenosis |
OMIM:617237 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Bradycardia, Cardiomyopathy |
OMIM:609286 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tricuspid regurgitation, Congestive heart failure, Tachycardia, Pulmonary arterial hypertension, ... |
ORPHA:505248 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Lymphopenia, Panniculitis, Neutropenia, Tricuspid regurgitation, Re... |
ORPHA:508542 |
| Pituitary Apoplexy |
|
Hypotension, Normochromic anemia, Hypertension |
ORPHA:95613 |
| Poliomyelitis |
|
Hypotension, Hypertension, Hypovolemic shock |
ORPHA:2912 |
| Mental Retardation, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Short stature, Coarctation of aorta |
OMIM:615502 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... |
ORPHA:331206 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Anemia |
ORPHA:3405 |
| Myofibrillar Myopathy 11 |
|
Overweight, Coarctation of aorta |
OMIM:619178 |
| Eisenmenger Syndrome |
|
Ventricular arrhythmia, Palpitations, Right ventricular failure, Hepatojugular reflux, Supraventr... |
ORPHA:97214 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Mullegama-Klein-Martinez Syndrome |
|
Coarctation of aorta, Failure to thrive, Short stature, Congenital diaphragmatic hernia |
OMIM:301022 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Addison Disease |
|
Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Hypotension, Weight loss, Norm... |
ORPHA:85138 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Failure to thrive |
ORPHA:90791 |
| Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Splenomegaly |
OMIM:605309 |
| Alexander Disease |
|
Sudden cardiac death, Failure to thrive, Hypotension, Hypertension |
ORPHA:58 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Polysplenia, Pulmonic stenosis, Inguinal hernia, Asplenia, Pu... |
OMIM:208530 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Truncus arteriosus, Coarctation of aorta, Patent d... |
OMIM:601186 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Cellulitis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic ane... |
ORPHA:486 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, Abnormal carotid artery morphology, Aortic aneurysm, Vascular dilatation, Telangie... |
ORPHA:3342 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Vasculitis in the... |
ORPHA:443811 |
