| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... |
ORPHA:263297 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| 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 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart... |
OMIM:261740 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, H... |
ORPHA:276580 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:602079 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... |
ORPHA:79102 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia, Pigmentary retinopathy, Hepatomegaly |
OMIM:609016 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:255100 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:212138 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypo... |
ORPHA:276608 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Shortened PR interv... |
OMIM:614947 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating... |
ORPHA:26793 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly |
OMIM:121300 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuosity, Ar... |
ORPHA:104 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations |
OMIM:188580 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia |
ORPHA:199296 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... |
OMIM:171420 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:310300 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Increased total bilirubin |
ORPHA:90037 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Retinal dystrophy, Paroxysmal atria... |
ORPHA:49827 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... |
ORPHA:365 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glyco... |
ORPHA:263455 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy |
ORPHA:1177 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
| Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Raynaud ... |
ORPHA:358 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperamm... |
ORPHA:159 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Abnormal heart morphology, Bradycardia, Hypotension, Abnormal glucose homeos... |
ORPHA:391673 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Congestive heart failure, Decreased plasma f... |
OMIM:619048 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia |
ORPHA:171876 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia |
OMIM:613239 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Tachycardia, Optic disc pallor, Hyperglycemia |
OMIM:619737 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
| Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level |
ORPHA:264675 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... |
ORPHA:368 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circul... |
OMIM:616878 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Abnormal heart morphology, Pigmentary retinopathy, Retinal degene... |
ORPHA:79264 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... |
ORPHA:173 |
| Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Cardiomyocyte mitoch... |
ORPHA:423 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Bradycardia, Hyp... |
OMIM:614702 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval, Elevated circulating... |
OMIM:619040 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia |
OMIM:229700 |
| Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... |
OMIM:171300 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Ne... |
ORPHA:348 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... |
OMIM:613327 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Optic atrophy, Hypoglycemia |
OMIM:608688 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... |
ORPHA:466650 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect |
OMIM:613870 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... |
OMIM:614921 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pu... |
OMIM:613845 |
| Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin |
ORPHA:90036 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
| Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Cong... |
OMIM:235200 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrop... |
ORPHA:156 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Hypertrophic cardi... |
OMIM:300438 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
| Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... |
OMIM:266500 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Hyperphosphate... |
ORPHA:36913 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, H... |
OMIM:618234 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase |
OMIM:620265 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... |
ORPHA:231625 |
| Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Hepatomegaly, Myocardial infarction, Myo... |
ORPHA:3452 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Hypertrophi... |
ORPHA:361 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... |
ORPHA:330001 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ... |
OMIM:212140 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... |
ORPHA:71212 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra... |
ORPHA:480864 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... |
ORPHA:247353 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Hypertension |
ORPHA:79473 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... |
ORPHA:230 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Optic atrophy, Hypertension |
ORPHA:1764 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi... |
OMIM:619386 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemi... |
ORPHA:5 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial infarction, Hyperk... |
ORPHA:95409 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, ... |
ORPHA:199299 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalb... |
ORPHA:1667 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... |
OMIM:201475 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Neonatal hypoglycemia |
ORPHA:90791 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... |
OMIM:610131 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,... |
OMIM:610505 |
| Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyop... |
OMIM:229300 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... |
ORPHA:85443 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperam... |
OMIM:618120 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hypertension, Hyperkalemia, Glycosuria |
ORPHA:97362 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyp... |
ORPHA:42 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac... |
ORPHA:2394 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Increased circulating thyroglobulin level |
OMIM:609152 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypoalbuminemia, Vasculitis ... |
OMIM:619381 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Cln3 Disease |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Bradycardia, Lef... |
ORPHA:228346 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
| Rh Deficiency Syndrome |
|
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Hypertension, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... |
OMIM:618183 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... |
ORPHA:505248 |
| Alg8-Cdg |
|
Hyponatremia, Retinopathy, Optic atrophy |
ORPHA:79325 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... |
ORPHA:36234 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Intracranial hemorrhage, Hypoglycemia |
OMIM:617053 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Optic atrophy, Abnormal heart morphology, He... |
ORPHA:93400 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Palpitations, Bradycardia |
ORPHA:91355 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, B... |
ORPHA:90051 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Glycosuri... |
ORPHA:411634 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypoglycemia, Hypotension |
ORPHA:95613 |
| Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Myocarditis, Abnormal blood ion concentration, Hypovolemic shock |
ORPHA:810 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Premature ventricular contraction |
OMIM:617072 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Left ventri... |
ORPHA:251274 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:2162 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Cardiomegaly, Increased circulating ferriti... |
ORPHA:465508 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circu... |
ORPHA:85138 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Muscular ventricular septal defect, Biventricular hypertrophy, ... |
ORPHA:79324 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... |
OMIM:618775 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Graft Versus Host Disease |
|
Tachycardia, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:168558 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... |
ORPHA:340 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:289548 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
| Acitretin/Etretinate Embryopathy |
|
Abnormal retinal morphology, Conotruncal defect, Third degree atrioventricular block, Bradycardia... |
ORPHA:40366 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia, Hypotension |
ORPHA:293978 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Epistaxis, Pericardial e... |
ORPHA:167 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia |
OMIM:618182 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C... |
OMIM:617713 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Retinal pigment epithelial mottling,... |
OMIM:219800 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion |
ORPHA:1666 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
| Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618839 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension |
ORPHA:98849 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618835 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:280365 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypovolemia, Hyperkalemia, Hepatosplenomegaly, Pulmonary arte... |
ORPHA:275761 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... |
ORPHA:89938 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertens... |
ORPHA:544482 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty a... |
OMIM:610768 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Ogden Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, ... |
OMIM:300855 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... |
ORPHA:404443 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Diabetes mellitus, Elevated circulating creatine kinase concentration, Dilat... |
ORPHA:254892 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Lipemia retinalis, Hypertension, Hyperuricemia, Fasti... |
OMIM:232200 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension, Neonatal hypoglycemia |
ORPHA:90794 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia |
OMIM:616026 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Hepatosplenomegaly,... |
ORPHA:731 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom... |
OMIM:170390 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... |
OMIM:601992 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Hypokalemia, Hypophosphatemia, Hypercholest... |
ORPHA:534 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve |
ORPHA:1772 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response |
OMIM:617864 |
| Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Hepatosplenomegaly, Pulmonic stenosis, Hype... |
OMIM:619488 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia... |
OMIM:309801 |
| Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia |
ORPHA:707 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbu... |
OMIM:617156 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Dystonia, Memory impairment, Laryngea... |
ORPHA:845 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:201750 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Hypoka... |
ORPHA:91347 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Sarcoidosis |
|
Hepatomegaly, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Heart bl... |
ORPHA:797 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy |
ORPHA:2131 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:3464 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment |
OMIM:617527 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure |
OMIM:181270 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Papilledema, Myocarditis, Congestive heart failure, Spl... |
ORPHA:3385 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Premature ventricular contraction, Hypertensio... |
OMIM:602535 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
