| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
| Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... |
OMIM:261740 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... |
ORPHA:263297 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... |
OMIM:604765 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Increased circu... |
OMIM:232300 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia |
OMIM:616949 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Elevated ... |
ORPHA:308552 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... |
OMIM:620066 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... |
OMIM:618782 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Chorea, Benign Hereditary |
|
Gait disturbance, Chorea |
OMIM:118700 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... |
ORPHA:137675 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect |
OMIM:178650 |
| Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Palpitations, Shortened PR inte... |
ORPHA:79102 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... |
ORPHA:85451 |
| Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased cir... |
OMIM:601494 |
| Atrial Standstill |
|
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... |
ORPHA:1344 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... |
ORPHA:94093 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect, Hypernatremia |
OMIM:615508 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... |
OMIM:300539 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
| Coronary Arterial Fistula |
|
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... |
ORPHA:2041 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level |
OMIM:203400 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Elevated ... |
ORPHA:365 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Nephrogenic Diabetes Insipidus |
|
Hypovolemia, Hypernatremia |
ORPHA:223 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Palpitations, Elevated circulating creatine kinase conce... |
OMIM:310300 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... |
OMIM:616249 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556037 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... |
ORPHA:31824 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... |
ORPHA:3093 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level |
OMIM:177735 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556030 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures |
ORPHA:94090 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Arrhythmia, Hyponatremia, Hyperk... |
ORPHA:682 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
| Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... |
ORPHA:466677 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... |
OMIM:615745 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... |
ORPHA:3008 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Hepatomegaly, Myofi... |
OMIM:115197 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... |
ORPHA:860 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Third h... |
ORPHA:57777 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal T-wave, ST segment depression, Hypocalcemia, Raynaud phenom... |
ORPHA:358 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
| Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia |
ORPHA:79273 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Elevated circulati... |
ORPHA:466650 |
| Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT ... |
OMIM:601005 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... |
ORPHA:3092 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Increased QRS v... |
OMIM:619040 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal heart morphology |
ORPHA:391673 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
| Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Legionnaires Disease |
|
Splenomegaly, Arrhythmia, Endocarditis, Hypotension, Myocarditis, Hyponatremia, Pericarditis |
ORPHA:549 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Increased circulating renin level, Hyponatremi... |
ORPHA:427 |
| Naxos Disease |
|
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... |
OMIM:300257 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia |
ORPHA:83601 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
OMIM:255160 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Pulmonary arterial hypertension, Hyperuricemia |
OMIM:613845 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... |
ORPHA:173 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Whipple Disease |
|
Hepatomegaly, Splenomegaly, Hypotension, Myocarditis, Myocardial infarction, Hyponatremia, Gastro... |
ORPHA:3452 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, ... |
OMIM:618183 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... |
OMIM:267700 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... |
ORPHA:1677 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Decreased circulating renin level, Palpitations, Intracranial hemor... |
ORPHA:231625 |
| Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... |
OMIM:310200 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Reduced left v... |
ORPHA:268 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... |
ORPHA:615 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypert... |
ORPHA:251274 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Arrhythmia, Tra... |
OMIM:255120 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hypertension, Tachycardia, Hyponatremia |
ORPHA:79473 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Splenomegaly, Hype... |
OMIM:619381 |
| Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudication, Hepatomegaly, Increased... |
ORPHA:85443 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Arrhythmia, Increased s... |
OMIM:235200 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon... |
ORPHA:1667 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension |
ORPHA:361 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... |
OMIM:603553 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Increased circulating renin level, Myocardial ... |
ORPHA:95409 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Increased circ... |
ORPHA:26793 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Hypertension, Hyponatremia |
ORPHA:1764 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... |
ORPHA:980 |
| Refsum Disease, Classic |
|
Arrhythmia, Elevated levels of phytanic acid, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Hypocalcemic tetany, Elevated circulati... |
ORPHA:411634 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level |
ORPHA:90791 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Mirage Syndrome |
|
Intracranial hemorrhage, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypercalcemia |
ORPHA:199299 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
| Dextrocardia |
|
Situs inversus totalis, Dextrocardia, T-wave inversion, Abnormal EKG, Abnormal heart morphology |
ORPHA:1666 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... |
ORPHA:90038 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Hepatocellular Carcinoma |
|
Budd-Chiari syndrome, Hepatomegaly, Hyperbilirubinemia, Hypokalemia, Hypotension, Hypoalbuminemia... |
ORPHA:88673 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Hyponatremia, Bradycardia |
ORPHA:91355 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... |
OMIM:234700 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Acute Intermittent Porphyria |
|
Hypertension, Tachycardia, Hyponatremia |
ORPHA:79276 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Secundum atrial septal defect... |
OMIM:108800 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension |
ORPHA:95613 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration, Myocarditis, Hypovolemic shock |
ORPHA:810 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:293978 |
| Lysosomal Acid Lipase Deficiency |
|
Hypovolemia, Hepatosplenomegaly, Hypotension, Hypertriglyceridemia, Hyponatremia, Hypercholestero... |
ORPHA:275761 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Ele... |
ORPHA:70591 |
| Adenohypophysitis |
|
Orthostatic hypotension, Hyponatremia |
ORPHA:95512 |
| Alg12-Cdg |
|
Muscular ventricular septal defect, Hypocholesterolemia, Biventricular hypertrophy, Hypoalbuminem... |
ORPHA:79324 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, ... |
ORPHA:167 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Hepatosplenomegaly, Abnormal EKG, Telangiectasia, Abnormal heart morphology |
ORPHA:93400 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... |
ORPHA:230 |
| Panhypophysitis |
|
Orthostatic hypotension, Hyponatremia |
ORPHA:95513 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:2162 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension, Increased circulating renin level, Abnormal circulating cholesterol con... |
ORPHA:168558 |
| Addison Disease |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperurice... |
ORPHA:85138 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension, Increased circulating renin level, Abnormal circulating cholesterol con... |
ORPHA:289548 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
ORPHA:480864 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Myocarditis, Hyponatremia, Hypertensive crisis, Hypertension, Hyperkalemia |
ORPHA:544482 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, H... |
OMIM:619991 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomega... |
OMIM:208000 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, Splenomega... |
OMIM:219800 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Splenomegaly, Hepatosplenomegaly, Enlarged kidney, Portal hypertension, Hyponatremia, Gastrointes... |
ORPHA:731 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Hyper... |
OMIM:229310 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
| African Trypanosomiasis |
|
Narcolepsy, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Myocarditis, Third degree... |
ORPHA:3385 |
| Friedreich Ataxia 2 |
|
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... |
OMIM:601992 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypovolemia, Hyperkalemia, Hypotension, Shock, Hyponatremia, Hypochloremia |
ORPHA:90794 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Pro... |
OMIM:170390 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia |
ORPHA:534 |
| Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
| Steinert Myotonic Dystrophy |
|
Supraventricular tachycardia, Prolonged QRS complex, Dilated cardiomyopathy, Cardiac conduction a... |
ORPHA:273 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... |
OMIM:302900 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia |
ORPHA:2131 |
| Niemann-Pick Disease Type C |
|
Narcolepsy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
ORPHA:646 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave |
ORPHA:444072 |
| Truncus Arteriosus |
|
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Abnormal T-wave |
OMIM:241080 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Abnormal T-wave |
ORPHA:3464 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
|
ORPHA:2196 |
