| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| 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 |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Short stature |
ORPHA:1705 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Analbuminemia |
|
Patent ductus arteriosus, Lipodystrophy, Hypotension |
OMIM:616000 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... |
ORPHA:229 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Short stature, Obesity, Hypotension |
ORPHA:369873 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... |
OMIM:615779 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
| Late-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556037 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Thrombocyto... |
ORPHA:99828 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556030 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Failure to thrive, Hypotension |
OMIM:203400 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Hypertension, Hypotension |
OMIM:611489 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... |
ORPHA:860 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... |
ORPHA:91547 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia |
ORPHA:188 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Chromosome 5Q12 Deletion Syndrome |
|
Postnatal growth retardation, Patent ductus arteriosus, Decreased body mass index, Hypotension |
OMIM:615668 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Stroke,... |
ORPHA:444463 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocyt... |
ORPHA:391673 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ... |
ORPHA:99050 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hypotension |
OMIM:264350 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Cardiomyopathy, Leuk... |
ORPHA:292 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Short stature, Postnatal growth retardation, Splenomegaly, Coarctation of aorta, Leukopenia, Lymp... |
OMIM:620210 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Palpitations, Hypotensio... |
ORPHA:100080 |
| Immunodeficiency 76 |
|
Splenomegaly, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abnormality of connective... |
ORPHA:91387 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hypotension |
OMIM:177735 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive, Coarctation of aorta |
OMIM:616069 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Atrophic scars, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Hypotension, Myeloprolifer... |
ORPHA:79456 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio... |
ORPHA:100082 |
| Legionnaires Disease |
|
Pericarditis, Myocarditis, Splenomegaly, Hypotension, Cellulitis, Arrhythmia, Lymphopenia |
ORPHA:549 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Leukocytosis, Leukopenia, Hypotension |
ORPHA:36238 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation |
OMIM:616166 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest |
ORPHA:49827 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Post-Traumatic Pituitary Deficiency |
|
Growth delay, Hypotension, Delayed puberty |
ORPHA:95619 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Growth delay, Hypotension, Failure to thrive |
ORPHA:427 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Weight loss, Ascend... |
ORPHA:449400 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal aortic morphology, ... |
ORPHA:1166 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
| Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Bradycardia... |
ORPHA:90051 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Weight loss, Palpitations, Facial telangiecta... |
ORPHA:97287 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Lymphopenia, T lymphocytopenia, B lymphocytopenia, Failure to thrive |
ORPHA:277 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Postnatal growth retardation, Obesity, Hypotension, Intrauteri... |
ORPHA:439822 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Weight loss, Melena, Iron defici... |
ORPHA:100075 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Decreased prop... |
OMIM:619846 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Cachexia, Vacuolated lymphocyt... |
ORPHA:275761 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Myocarditis, Splenome... |
ORPHA:3452 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... |
ORPHA:244242 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Beta-Ketothiolase Deficiency |
|
Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis |
ORPHA:134 |
| Meningococcal Meningitis |
|
Shock, Stroke, Hypotension |
ORPHA:33475 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Short stature, Hypotension, Mastocytosis, Ar... |
ORPHA:2135 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Tachycardia, Abscess, Myocarditis, Increased circulating myelocyte count, Capil... |
ORPHA:36234 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Iron deficiency a... |
ORPHA:100078 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Scrub Typhus |
|
Splenomegaly, Myocarditis, Hypotension |
ORPHA:83317 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Hypotension, Throm... |
ORPHA:20 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... |
ORPHA:3092 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p... |
ORPHA:1330 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... |
ORPHA:319213 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Stro... |
ORPHA:95409 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Normochromic anemi... |
OMIM:614857 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Weight loss, Hypoten... |
ORPHA:199299 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardiogenic shock,... |
ORPHA:31824 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Thrombocytopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Growth delay, Palpitations, Hypotension, Delayed ... |
OMIM:263800 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Telangiectasia, Anemia, Coarctation of aorta, Thrombocytopenia |
ORPHA:101028 |
| Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proportion of CD4-positi... |
OMIM:619510 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
| Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
| Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
| Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Intrauterine growth retardation, Short stature, Decreased proportion of naive CD8 T ... |
ORPHA:1830 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop... |
ORPHA:99827 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... |
OMIM:617237 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis |
OMIM:618496 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... |
OMIM:614921 |
| Scimitar Syndrome |
|
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Descendi... |
ORPHA:185 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Impaired neutrop... |
OMIM:618986 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Failure to thrive, Hypotension, Weight loss |
ORPHA:361 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arterios... |
ORPHA:251071 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hypotension, Abnormal l... |
ORPHA:293978 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Chronic lymphatic leukemia, Growth delay, Increased proportion of tr... |
OMIM:616005 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
| Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
OMIM:606003 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Small for gestational age, Thrombocytopenia, Disproporti... |
OMIM:242900 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Postnatal growth retardation, Patent ductus arteriosus, Abnormal aortic arch mor... |
ORPHA:2306 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Increased intraabdominal fat, Hypotension |
ORPHA:91349 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
| Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Hypertension, Hypotension |
OMIM:174000 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology |
ORPHA:2516 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Marburg Hemorrhagic Fever |
|
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Hypovolemia, Neutrophilia in pres... |
ORPHA:99826 |
| Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Neutropenia, Perianal abscess, Patent ductus arteriosus, He... |
OMIM:612541 |
| Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Hypotension |
ORPHA:95613 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
| Alexander Disease |
|
Hypotension, Hypertension, Failure to thrive, Sudden cardiac death |
ORPHA:58 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Short stature, Coarctation of aorta |
OMIM:615502 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hypotension |
ORPHA:90791 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
| Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Anemia |
ORPHA:3405 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Failure to thrive, Aortopulmonary collateral arteries |
ORPHA:293181 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
| Myofibrillar Myopathy 11 |
|
Overweight, Coarctation of aorta |
OMIM:619178 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Congestive heart failure, T... |
ORPHA:508542 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia,... |
ORPHA:486 |
| Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic hernia... |
OMIM:208050 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... |
ORPHA:505248 |
| Right Atrial Isomerism |
|
Inguinal hernia, Aortopulmonary collateral arteries, Asplenia, Total anomalous pulmonary venous r... |
OMIM:208530 |
| Addison Disease |
|
Normocytic anemia, Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Weight loss... |
ORPHA:85138 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
| Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Delayed puberty, Low-to-normal blood pressure, Varicos... |
ORPHA:358 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Telangiectasia of the skin, Myocardial infarction, Hiatus hernia... |
ORPHA:3342 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Medial calcification of large arteries, Short stature, Autoimmune th... |
ORPHA:391487 |
| Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, S... |
ORPHA:443811 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... |
ORPHA:392 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Patent duc... |
OMIM:601186 |
| Noonan Syndrome 9 |
|
Short stature, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... |
ORPHA:391665 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion contracture, Panniculit... |
OMIM:617591 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... |
ORPHA:91347 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
| Prolactinoma |
|
Hypotension, Delayed puberty |
ORPHA:2965 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Failure to thrive, Femoral hernia, Obesity, Conotruncal de... |
ORPHA:96147 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... |
OMIM:617827 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... |
ORPHA:276 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension, Delayed puberty |
ORPHA:168558 |
| Tatton-Brown-Rahman Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... |
ORPHA:404443 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension, Delayed puberty |
ORPHA:289548 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| Phaver Syndrome |
|
Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia,... |
ORPHA:2876 |
| Diabetic Embryopathy |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... |
ORPHA:1926 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Patent ductus arteriosus, Anomalous pul... |
ORPHA:1120 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Stroke, Dec... |
ORPHA:760 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... |
ORPHA:98863 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
| Mirage Syndrome |
|
Short stature, Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, D... |
OMIM:617053 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoi... |
OMIM:613179 |
| Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Growth delay, Weight loss, Decreased proportion of CD3-posi... |
ORPHA:90362 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leuko... |
OMIM:615688 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
| Icf Syndrome |
|
Short stature, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia |
ORPHA:2268 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal... |
OMIM:602450 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia, Aortic... |
ORPHA:397 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Aortic root aneurysm, Vasculitis in t... |
OMIM:615816 |
| Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous... |
OMIM:608978 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
| Pagod Syndrome |
|
Omphalocele, Short stature, Congenital diaphragmatic hernia, Sudden cardiac death, Abnormality of... |
ORPHA:991 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Inguinal hernia, Widened atrophic scar, Congestive heart failure, Elbow flexion contracture, Arte... |
ORPHA:1900 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Failure to thrive, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Short stature, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Imp... |
OMIM:618935 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
| Meacham Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Patent ductus arteriosus, Anomalous p... |
ORPHA:3097 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta |
ORPHA:284169 |
| Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aor... |
OMIM:614816 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Short stature, Patent ductus arteriosus, Coarctation of aorta, C... |
OMIM:605275 |
| Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Obesity, Abnormal aortic morphology, Umbilical he... |
ORPHA:1001 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
| Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intrauterine growt... |
OMIM:300514 |
| Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Short stature, Growth delay, Hypotension, Delayed puberty |
ORPHA:90695 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root aneurysm, Campt... |
OMIM:617602 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Coarctation of aorta, Supravalvar pulmonary stenosis, Aortic valve sten... |
OMIM:618164 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Thrombocytopenia |
ORPHA:90062 |
| Galloway-Mowat Syndrome 3 |
|
Short stature, Hiatus hernia, Coarctation of aorta, Hypertension, Camptodactyly, Intrauterine gro... |
OMIM:617729 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Atrioventricular block, Coarctation of aorta, Hypertension, Double outlet right vent... |
ORPHA:371428 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Short stature, Hypovolemia, Weight loss, Hypotension, Failure to thrive |
ORPHA:90794 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
| Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Short... |
OMIM:618460 |
| Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Short stature, Low-to-normal blood pressure, Failure to thrive, Chondr... |
OMIM:601678 |
| Ogden Syndrome |
|
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... |
OMIM:300855 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Short stature, Small for gestational age, Pure red... |
ORPHA:124 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Rhizomelia, Short stature, Small for gestational age, Coarctation of aorta,... |
OMIM:614114 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
| Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... |
ORPHA:2396 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Inguinal hernia, Short stature, Small for gestational age, Inc... |
ORPHA:84064 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Varicose veins, Atrophic scars, Camptodactyly, Pulmonic stenosis, Aort... |
OMIM:618343 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... |
ORPHA:1572 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Coarctation of aorta, Growth delay, Intrauterin... |
ORPHA:2409 |
| Generalized Pustular Psoriasis |
|
Overweight, Congestive heart failure, Leukocytosis, Obesity, Lymphopenia |
ORPHA:247353 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal eosinophil morphology, Epistaxis,... |
ORPHA:906 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Kleefstra Syndrome |
|
Short stature, Pulmonary artery stenosis, Obesity, Coarctation of aorta, Hernia, Arrhythmia, Tetr... |
ORPHA:261494 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Short stature, Coarctation of aorta, Pulmonary... |
ORPHA:93932 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Persistent left superior vena cava, Coarctation of aorta |
OMIM:618494 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Mitral stenosis, Asplenia, Patent ductus arteriosus, Hypoplastic aortic arch, Dextro... |
OMIM:306955 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Short stature, Low-to-normal blood pressure, Failure to thrive, Chondr... |
OMIM:241200 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
| Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Coarctation of aorta, Pulmonic stenosis, Decreased b... |
OMIM:300867 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venou... |
OMIM:270100 |
| Meester-Loeys Syndrome |
|
Short stature, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral... |
OMIM:300989 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Short stature, Patent ductus arteriosus, Hypoplastic aortic arch, Coarct... |
OMIM:617506 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Uterine prolapse, Inguinal hernia, Atrial fibrillation, Camptodactyly of fi... |
ORPHA:284984 |
| Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Inguinal hernia, Arterial tortuosity, Descending thoracic aorta aneurysm, P... |
OMIM:610168 |
| Distal Deletion 15Q |
|
Short stature, Small for gestational age, Congenital diaphragmatic hernia, Double outlet right ve... |
ORPHA:1596 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Patent ductus ... |
OMIM:620005 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu... |
OMIM:102700 |
| 15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... |
ORPHA:254892 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Atypical ... |
ORPHA:60030 |
| Degcags Syndrome |
|
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis |
OMIM:619488 |
| Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Short stature, Coarctation of aorta |
OMIM:617159 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Flexion contracture, Perip... |
ORPHA:217085 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... |
OMIM:613795 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Intrauterine growth retardation, ... |
ORPHA:2008 |
| Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic mo... |
ORPHA:2059 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive h... |
OMIM:105650 |
| Marfan Syndrome |
|
Inguinal hernia, Slender build, Cachexia, Congestive heart failure, Descending aortic dissection,... |
ORPHA:558 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Flexion contracture, Perip... |
ORPHA:217093 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Short stature, Patent ductus arteriosus, Weight loss,... |
ORPHA:84 |
| Alport Syndrome |
|
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short stature, Coarctation of aorta |
OMIM:600987 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
| Noonan Syndrome 10 |
|
Short stature, Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitra... |
OMIM:616564 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Short stature, Coarctation of aorta, Acute lymphoblastic leukemia, Growth d... |
ORPHA:1052 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Pulmonary insufficiency, Asplenia, Pulmonary artery stenosis, Patent ductus arterios... |
OMIM:265380 |
| Mucopolysaccharidosis Type 2 |
|
Inguinal hernia, Short stature, Splenomegaly, Peripheral arterial stenosis, Growth delay, Contrac... |
ORPHA:580 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Coarctation of aorta |
OMIM:618929 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Short stature, Coarctation of aorta |
OMIM:163200 |
| Toriello-Carey Syndrome |
|
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Coarctation of aorta, Card... |
ORPHA:3338 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Severe short stature, Coarctation of aorta |
ORPHA:2780 |
| Hardikar Syndrome |
|
Short stature, Portal hypertension, Hematemesis, Hypersplenism, Pulmonary artery stenosis, Patent... |
OMIM:301068 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Growth delay, Pituitary dwarfism, Hypotension, Delayed puberty |
ORPHA:95494 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Tetralogy ... |
OMIM:600460 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Inguinal hernia, Postnatal growth retardation, Congestive heart failure, Di... |
ORPHA:90348 |
| Cushing Disease |
|
Dorsocervical fat pad, Myocardial infarction, Leukocytosis, Increased body weight, Hypertension, ... |
ORPHA:96253 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Patent ductus arter... |
OMIM:618454 |
| Holoprosencephaly |
|
Omphalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Abnormality of the sp... |
ORPHA:2162 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Short stature, Coarctation of aorta |
OMIM:617260 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Flexion contracture, Coarctation of aorta, Growth delay, Interrupted ao... |
ORPHA:17 |
| Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
| Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Patent ductus arter... |
ORPHA:2745 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Atrophic scar... |
OMIM:614557 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia |
OMIM:618280 |
| Myhre Syndrome |
|
Short stature, Small for gestational age, Patent ductus arteriosus, Obesity, Coarctation of aorta... |
OMIM:139210 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia o... |
OMIM:620025 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... |
ORPHA:797 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Maternal Phenylketonuria |
|
Intrauterine growth retardation, Double outlet right ventricle, Tetralogy of Fallot, Coarctation ... |
ORPHA:2209 |
| Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Aortic regurgitation, Tricuspid regurgitation, Incisional he... |
OMIM:154700 |
| Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Abnormal aortic morphology, Disproportionate short-limb... |
ORPHA:1507 |
| Mosaic Trisomy 16 |
|
Small for gestational age, Patent ductus arteriosus, Coarctation of aorta, Intrauterine growth re... |
ORPHA:1708 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Inguinal hernia, Short stature, Abnormal dental enamel morphology, Cerebral... |
ORPHA:666 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Transient ischemic attack, Failure to thrive in infancy, ... |
ORPHA:51608 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Short stature, Small for gestational age, Postnatal growth retardation, Patent ... |
OMIM:180849 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Short stature, Abnormal internal carotid artery morphology, Renovascu... |
ORPHA:97685 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Prolonged QT interval, Short stature, Failure to thrive in infancy, Myocard... |
ORPHA:99413 |
| Turner Syndrome |
|
Aortic arch aneurysm, Prolonged QT interval, Short stature, Failure to thrive in infancy, Myocard... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Short stature, Failure to thrive in infancy, Myocard... |
ORPHA:99228 |
| Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Short stature, Failure to thrive in infancy, Myocard... |
ORPHA:99226 |
| Esophageal Atresia |
|
Omphalocele, Small for gestational age, Failure to thrive in infancy, Coarctation of aorta, Growt... |
ORPHA:1199 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Hypertro... |
OMIM:600268 |
| Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Short stature, Coarctation of aorta |
OMIM:244450 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Short stature, Arterial tortuosity, Patent ductu... |
OMIM:619472 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Distal arthrogryposis, Aortopulmonary collateral arteries |
OMIM:617557 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Thrombocytopenia, Leukocytosis, Patent ductus arteriosus, Hepatosple... |
OMIM:274000 |
| Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Postnatal growth retardation, Coarctation of aorta, Camptodact... |
OMIM:616145 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Coarctation of aorta |
OMIM:264480 |
| Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Peripheral arteriovenous fistula, Short stature, Cigarette-paper scars, Vari... |
ORPHA:286 |
| Nicolaides-Baraitser Syndrome |
|
Inguinal hernia, Failure to thrive, Short stature, Coarctation of aorta, Growth delay, Umbilical ... |
OMIM:601358 |
| Orofaciodigital Syndrome Vi |
|
Failure to thrive, Short stature, Coarctation of aorta |
OMIM:277170 |
| Jacobsen Syndrome |
|
Inguinal hernia, Short stature, Coarctation of aorta, Growth delay, Intrauterine growth retardati... |
ORPHA:2308 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Failure to thr... |
OMIM:163950 |
| Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Short stature, Cardiac conduction abnormality, Patent ductus arteriosus, Obesity, Vascular ring, ... |
ORPHA:353281 |
| Kabuki Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Obesity, Coarctation of aorta, Failure to thrive |
ORPHA:2322 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Short stature, Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot |
ORPHA:508498 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Inguinal hernia, Small for gestational age, Patent ductus arteriosus, Coarctation of aorta, Mitra... |
ORPHA:363611 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Failure to thrive, Shoulder flexion contracture, Flexion contracture, Elbow flex... |
OMIM:210710 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Coarctation of aorta, Hypertension, Mitral regurgitat... |
OMIM:220111 |
| Mullegama-Klein-Martinez Syndrome |
|
Failure to thrive, Short stature, Congenital diaphragmatic hernia, Coarctation of aorta |
OMIM:301022 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
| Smith-Lemli-Opitz Syndrome |
|
Short stature, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Hypert... |
OMIM:270400 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Accessory spleen, Camptodactyly of finger, Asplenia, Splenomegaly, Patent ductus art... |
OMIM:249000 |
| Alagille Syndrome 1 |
|
Failure to thrive, Coarctation of aorta, Stroke, Renal artery stenosis, Tetralogy of Fallot, Peri... |
OMIM:118450 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Short stature, Cardiac conduction abnormality, Postnatal growth retardation, Patent ductus arteri... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Short stature, Cardiac conduction abnormality, Postnatal growth retardation, Patent ductus arteri... |
ORPHA:353277 |
| Robinow Syndrome |
|
Small for gestational age, Short stature, Coarctation of aorta, Pulmonic stenosis, Umbilical hernia |
ORPHA:97360 |
| Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Rhizomelia, Coarctation of aorta |
ORPHA:50945 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Infancy onset short-trunk short stature, Short stat... |
ORPHA:508488 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis |
ORPHA:137605 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane... |
OMIM:612474 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Weight loss, Abnormal aortic morphology, Arteritis |
ORPHA:449395 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Patent ductus arteriosus, Short stature, Coarctation of aorta |
OMIM:617088 |
| Floating-Harbor Syndrome |
|
Inguinal hernia, Short stature, Coarctation of aorta, Umbilical hernia, Persistent left superior ... |
OMIM:136140 |
| Kabuki Syndrome 1 |
|
Hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Postnatal growth retardation, Coarc... |
OMIM:147920 |
| Floating-Harbor Syndrome |
|
Short stature, Small for gestational age, Coarctation of aorta, Growth delay, Tetralogy of Fallot... |
ORPHA:2044 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:618748 |
| Pallister-Hall Syndrome |
|
Inguinal hernia, Short stature, Large for gestational age, Patent ductus arteriosus, Coarctation ... |
ORPHA:672 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:619480 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Short stature, Pulmonary artery sling, Asplenia, Flexion contracture, Tetralog... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Decreased body weight, Short stature, Pulmonary artery sling, Asplenia, Patent ductus arteriosus,... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Short stature, Pulmonary artery sling, Asplenia, Patent ductus arteriosus, Fle... |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic l... |
OMIM:601803 |
| Craniofacial Microsomia 1 |
|
Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta |
OMIM:164210 |
