| 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 |
|
Memory impairment, Dementia |
OMIM:609636 |
| Schizophrenia |
|
Social and occupational deterioration |
OMIM:181500 |
| Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Cognitive impairment |
OMIM:614934 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
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 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia |
OMIM:616949 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... |
OMIM:300539 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| 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 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Pu... |
ORPHA:94093 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Hypernatremia |
OMIM:615508 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556037 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Nephrogenic Diabetes Insipidus |
|
Hypovolemia, Hypernatremia |
ORPHA:223 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556030 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... |
ORPHA:31824 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hypotension, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Cardiomyopathy, Dilated, 1D |
|
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... |
OMIM:601494 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Liddle Syndrome 3 |
|
Hypertension, Hypokalemia |
OMIM:618126 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures |
ORPHA:94090 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... |
ORPHA:3008 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Arrhythmia, Hyponatremia, Hyperk... |
ORPHA:682 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Elevated circulating creatine kinase concentration, Palp... |
OMIM:310300 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Hyponatremia |
ORPHA:199296 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Increased ... |
ORPHA:85451 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... |
ORPHA:466677 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:91354 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia |
ORPHA:79273 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Hyponatremi... |
ORPHA:427 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated circulati... |
ORPHA:466650 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia |
ORPHA:83601 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Pulmonary arterial hypertension, Hyperuricemia |
OMIM:613845 |
| Atrial Standstill 2 |
|
Hyperpepsinogenemia I, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial ... |
OMIM:615745 |
| Gitelman Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Abnormal T-wave, ST segment depression, Raynaud phenom... |
ORPHA:358 |
| Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
| Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Hyponatremia |
ORPHA:178478 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... |
ORPHA:173 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Hyponatremia, Bradycardia |
ORPHA:391673 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
| Legionnaires Disease |
|
Arrhythmia, Hypotension, Myocarditis, Hyponatremia, Pericarditis |
ORPHA:549 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Decreased circulating renin ... |
ORPHA:231625 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Hyp... |
OMIM:601678 |
| Whipple Disease |
|
Myocarditis, Hypotension, Myocardial infarction, Hyponatremia, Gastrointestinal hemorrhage, Peric... |
ORPHA:3452 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
OMIM:255160 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia, Hypertension |
OMIM:618114 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Tachycardia, Hypertension, Hyponatremia |
ORPHA:79473 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Myocardial ... |
ORPHA:95409 |
| Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Vasculitis in the skin, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, H... |
OMIM:619381 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Hypertrophic cardiomyopathy, Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
| Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... |
ORPHA:99106 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Hypocalcemic tetany, Elevated circulati... |
ORPHA:411634 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... |
ORPHA:75566 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Inc... |
OMIM:241200 |
| Muscular Dystrophy, Duchenne Type |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... |
OMIM:310200 |
| Cirrhotic Cardiomyopathy |
|
Abnormal A-type atrial natriuretic peptide level, Third heart sound, Increased circulating NT-pro... |
ORPHA:57777 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Hypertension, Hyponatremia |
ORPHA:1764 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Mirage Syndrome |
|
Intracranial hemorrhage, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension, Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... |
ORPHA:90038 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
| Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
| Pituitary Apoplexy |
|
Hypotension, Hypertension, Hyponatremia |
ORPHA:95613 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... |
ORPHA:3093 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Hypercalcemi... |
ORPHA:88673 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Hyponatremia, Bradycardia |
ORPHA:91355 |
| Shigellosis |
|
Abnormal blood ion concentration, Hypovolemic shock, Hyponatremia, Myocarditis |
ORPHA:810 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:293978 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epistaxis |
ORPHA:251274 |
| Acute Intermittent Porphyria |
|
Hypertension, Tachycardia, Hyponatremia |
ORPHA:79276 |
| Adenohypophysitis |
|
Orthostatic hypotension, Hyponatremia |
ORPHA:95512 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypovolemia, Hypotension, Shock, Hyponatremia, Hypochloremia, Hyperkalemia |
ORPHA:90794 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Panhypophysitis |
|
Orthostatic hypotension, Hyponatremia |
ORPHA:95513 |
| Addison Disease |
|
Orthostatic hypotension, Increased circulating renin level, Hypotension, Hyponatremia, Hyperurice... |
ORPHA:85138 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... |
ORPHA:168558 |
| Lysosomal Acid Lipase Deficiency |
|
Hypovolemia, Hypotension, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Pulmonary art... |
ORPHA:275761 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... |
ORPHA:289548 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
| Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Increased circulating NT-proBNP concentration, Arrhythmia, Abn... |
ORPHA:85443 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia... |
ORPHA:167 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Myocarditis, Hyponatremia, Hypertensive crisis, Hypertension, Hyperkalemia |
ORPHA:544482 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... |
ORPHA:230 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Holoprosencephaly |
|
Arrhythmia, Hyponatremia |
ORPHA:2162 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
ORPHA:480864 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Reduced left ventricular ejecti... |
ORPHA:268 |
| Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... |
OMIM:219800 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Elevated circulating C-reacti... |
ORPHA:70591 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... |
ORPHA:860 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia |
ORPHA:534 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Portal hypertension, Hyponatremia, Gastrointestinal hemorrhage, Hypertension, Increased serum bil... |
ORPHA:731 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, H... |
OMIM:619991 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Palpitations, Syncope, Bidirectional ventricular ectopy, Prolonged QTc interval, Pro... |
OMIM:170390 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Cardiac Diverticulum |
|
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... |
ORPHA:1686 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG |
ORPHA:93400 |
| Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
| Dextrocardia |
|
T-wave inversion, Abnormal EKG |
ORPHA:1666 |
| Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... |
ORPHA:980 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Concentric hypertrophic card... |
OMIM:229310 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia |
ORPHA:2131 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Abnormal T-wave |
OMIM:241080 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy |
OMIM:302900 |
| African Trypanosomiasis |
|
Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atrioventricular bloc... |
ORPHA:3385 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Abnormal T-wave |
ORPHA:3464 |
