| Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
| Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
| Alzheimer Disease 10 |
|
Dementia, Memory impairment |
OMIM:609636 |
| Schizophrenia |
|
Social and occupational deterioration |
OMIM:181500 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Hyperchloremia |
OMIM:614495 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Hyperchloremia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hypertension, Hyperchloremia |
OMIM:614496 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Dementia, Cognitive impairment |
OMIM:616230 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Elevated systolic blood pressure, Decreased serum creatinine, Decreased circulating... |
OMIM:300539 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated circulating creatin... |
ORPHA:97292 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypertension, Hypernatremia, Elevated circulating creatine kinase con... |
ORPHA:94093 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hypotension |
OMIM:203400 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Orthostatic hypotension |
OMIM:610600 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Increased circulating renin level, Hypotension |
ORPHA:556037 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Nephrogenic Diabetes Insipidus |
|
Hypovolemia, Hypernatremia |
ORPHA:223 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hypotension |
OMIM:177735 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Increased circulating renin level, Hypotension |
ORPHA:556030 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia |
ORPHA:94090 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hypotension |
OMIM:264350 |
| Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypomagnesemia, Cong... |
ORPHA:31824 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Liddle Syndrome 3 |
|
Hypertension, Hypokalemia |
OMIM:618126 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... |
ORPHA:3008 |
| Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Cong... |
ORPHA:682 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:613090 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... |
ORPHA:466677 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Hypovolemic shock, Increased circulating renin level, Arrhythmia |
ORPHA:171876 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Frontotemporal dementia, Dementia, Memory impairment |
OMIM:619132 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
| Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Hypokalemia, Palpitations, ST ... |
ORPHA:358 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:602522 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyponatremia, Pulmonary arterial hypertension, Hyperuricemia |
OMIM:613845 |
| Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Cholera |
|
Hyponatremia, Hypovolemic shock, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Abnormal bl... |
ORPHA:173 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Conge... |
OMIM:310200 |
| Liddle Syndrome 2 |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:618114 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... |
ORPHA:100924 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Bradycardia, Hypotension |
ORPHA:391673 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Hematochezia |
OMIM:618183 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Decreased circulating renin level, Hypoka... |
ORPHA:231625 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Arrhythmia, Hypotension |
ORPHA:549 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Low-to-normal blood ... |
OMIM:601678 |
| Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Increased QRS voltage, Prolonged QTc interval... |
OMIM:619040 |
| Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Whipple Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypo... |
ORPHA:3452 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
| Porphyria Variegata |
|
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Orthostatic hypotension, Hyperuricemia, Myocardial inf... |
ORPHA:95409 |
| Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
| Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypotension, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Low-to-normal blood pressure, Hypom... |
OMIM:241200 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level |
ORPHA:89938 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia |
ORPHA:1667 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Prolonged QT interval, Ventricular arrhythmia, Hypocalcemic seizures, Hypoca... |
ORPHA:36913 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Hypotension |
ORPHA:90791 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Hyponatremia, Hypertension, Tachycardia |
ORPHA:1764 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Orthostatic hypotension, Hyperuricemia, Hypotension |
ORPHA:199299 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... |
ORPHA:3093 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypertension, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating cr... |
ORPHA:90038 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Intracranial hemorrhage |
OMIM:617053 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Hypernatremia, Hyp... |
OMIM:619381 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, Epistaxis |
ORPHA:251274 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension |
ORPHA:95613 |
| Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypoalbuminem... |
ORPHA:88673 |
| Shigellosis |
|
Myocarditis, Hyponatremia, Hypovolemic shock, Abnormal blood ion concentration |
ORPHA:810 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Hyponatremia, Bradycardia, Palpitations |
ORPHA:91355 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:293978 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal P wave, Increased circulating troponin T concentration, Inc... |
ORPHA:85443 |
| Adenohypophysitis |
|
Orthostatic hypotension, Hyponatremia |
ORPHA:95512 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Shock, Hypochloremia, Hypovolemia, Hypotension |
ORPHA:90794 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Panhypophysitis |
|
Orthostatic hypotension, Hyponatremia |
ORPHA:95513 |
| Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Orthostatic hypotension, Hyperuricemia, Increased circ... |
ORPHA:85138 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Hypovolemia, Increase... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Hypovolemia, Increase... |
ORPHA:289548 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hypertriglycer... |
ORPHA:275761 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia |
ORPHA:79324 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Orthostatic syncope, Elevated circulating creatinine concentrat... |
ORPHA:230 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Reduced ejection fraction, Righ... |
ORPHA:268 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Elevated circulating creatine kin... |
ORPHA:26793 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Hypertension, Myocarditis, Hypertensive crisis, Hypocalcemia |
ORPHA:544482 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure |
OMIM:229300 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Elevated circulating a... |
ORPHA:480864 |
| Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Hyponatremia, Epistaxis, Increased circulating ferritin concentration, Hypertrig... |
ORPHA:167 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Abnormal left ventricular function, Palpitat... |
ORPHA:70591 |
| Holoprosencephaly |
|
Hyponatremia, Arrhythmia |
ORPHA:2162 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Hypokalemia, ... |
OMIM:170390 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... |
ORPHA:860 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... |
ORPHA:79102 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypertension, Gastrointestinal hemorrhage, Increased serum bile acid concentration,... |
ORPHA:731 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Decreased plasma carnitine, Hypophosphatemic rickets |
OMIM:219800 |
| Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
| Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Elevated circul... |
ORPHA:90068 |
| Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG |
ORPHA:93400 |
| Cardiac Diverticulum |
|
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... |
ORPHA:1686 |
| Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
| Absence Of The Pulmonary Artery |
|
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... |
ORPHA:980 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... |
OMIM:229310 |
| Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... |
OMIM:601992 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality |
ORPHA:2131 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... |
OMIM:302900 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |
| African Trypanosomiasis |
|
Myocarditis, Third degree atrioventricular block, Pericarditis, Second degree atrioventricular bl... |
ORPHA:3385 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
| Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
ORPHA:3464 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Supraventricular tac... |
ORPHA:273 |
