| Wolff-Parkinson-White Syndrome |
|
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... |
OMIM:194200 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... |
ORPHA:1055 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... |
OMIM:613243 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortene... |
OMIM:261740 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... |
ORPHA:324575 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... |
ORPHA:45453 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... |
ORPHA:66529 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... |
OMIM:611528 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... |
OMIM:614954 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... |
OMIM:613485 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Syn... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... |
ORPHA:276580 |
| Brugada Syndrome 6 |
|
Ventricular fibrillation, Cardiac arrest, ST segment elevation |
OMIM:613119 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inversion, V... |
ORPHA:263297 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... |
ORPHA:276575 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly, ... |
OMIM:232300 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Hypercholesterolemia, Ischemic stroke, ST segment depressio... |
ORPHA:90065 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension |
OMIM:615378 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, H... |
ORPHA:137675 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... |
OMIM:612158 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... |
ORPHA:45452 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... |
OMIM:608758 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, Bundle branch block, ST segment elevation |
OMIM:612838 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg... |
ORPHA:75565 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Syncope, Prolonged QT interval, Ventricular tachycardia |
OMIM:614021 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Progressive neurologic deterioration, Hyperinsulinemic hypoglycemia, Hyperi... |
ORPHA:276608 |
| Atrial Standstill |
|
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... |
ORPHA:1344 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602087 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Shortened PR interval, Ca... |
ORPHA:308552 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Thyrotoxic Periodic Paralysis |
|
Palpitations, Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypophosphat... |
ORPHA:79102 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia |
OMIM:616949 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... |
OMIM:604772 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Trimethylaminuria |
|
Tachycardia, Hypertension, Splenomegaly |
OMIM:602079 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia, Hepatomegaly, Cardiome... |
OMIM:600649 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce... |
OMIM:212138 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602086 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Hyponatremia, Decreased circulating renin level, Irritability, ... |
OMIM:300539 |
| Romano-Ward Syndrome |
|
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... |
ORPHA:101016 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Cognitive impairment, Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... |
OMIM:613873 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... |
ORPHA:99103 |
| Cardiogenic Shock |
|
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... |
ORPHA:97292 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circu... |
ORPHA:94093 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... |
OMIM:611777 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Coproporphyria, Hereditary |
|
Hypertension, Hepatomegaly, Tachycardia, Anxiety, Splenomegaly |
OMIM:121300 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Retinal degeneration, Bradycardia |
OMIM:617173 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia |
OMIM:612124 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... |
OMIM:608751 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Bradycardia, Ventricular tachycardia |
OMIM:611938 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... |
OMIM:615441 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... |
OMIM:610193 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... |
ORPHA:99105 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval |
OMIM:612240 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Long Qt Syndrome 10 |
|
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... |
OMIM:611819 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Ventricular fibrillation, Tachycardia, Syncope |
OMIM:603829 |
| Peripartum Cardiomyopathy |
|
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... |
ORPHA:563 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... |
OMIM:618782 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... |
OMIM:145600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dementia, Abnormal heart morphology, Pigmentary retinopathy, Retinal degeneration, Emotional labi... |
ORPHA:79264 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Arrhythmia, Dilated cardiomyopathy, Patent foramen ovale, Atrial s... |
ORPHA:26793 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Arrhythmia, Hypoglycemia, Hyperalaninemia, Cognitive impairment, Optic atrophy, Hypertrophic card... |
OMIM:614702 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Progressive neurologic deterioration, Hyperinsulinemic hypoglycemia, Neonat... |
ORPHA:263455 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... |
ORPHA:300751 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia |
OMIM:236800 |
| Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia, Insulin insensitivity, Elevated circulating creatine kinase concentrat... |
OMIM:602668 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Hypokalemia, Tachycardia |
OMIM:613239 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Retinal degeneration, Prolonged PR in... |
ORPHA:542306 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Hypokalemia, Tachycardia |
OMIM:188580 |
| Propionic Acidemia |
|
Arrhythmia, Hypoglycemia, Hepatomegaly, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:220400 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation |
OMIM:617280 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... |
OMIM:171420 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, H... |
ORPHA:365 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... |
ORPHA:90064 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... |
ORPHA:1329 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... |
OMIM:614022 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
| Pyruvate Carboxylase Deficiency |
|
Hyperammonemia, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in bl... |
ORPHA:3008 |
| Scorpion Envenomation |
|
Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac... |
ORPHA:466677 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... |
OMIM:108770 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... |
OMIM:108900 |
| Long Qt Syndrome 14 |
|
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Elevated circulating creatine kinase concentration, Arrhythmia |
OMIM:310095 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hypotension, Hyponatremia, Neonatal hypoglycemia |
ORPHA:199296 |
| Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Palpitations, Reduced ejection fraction, Arrh... |
ORPHA:217607 |
| Timothy Syndrome |
|
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Paten... |
OMIM:601005 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Brugada Syndrome 3 |
|
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... |
OMIM:611875 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:192500 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Decreased plasma carnitine, Fasting hypoglycemia, Arrhythmia, Hypotension, Hypoketotic hypoglycem... |
ORPHA:159 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, X-Linked |
|
Hypernatremia, Irritability |
OMIM:304800 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... |
ORPHA:263458 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:612347 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Tachycardia, Splenomegaly |
ORPHA:90037 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Decreased plasma free carnitine, Hypoglycemia, Hepatomegaly, Hyperalanin... |
OMIM:619048 |
| Gitelman Syndrome |
|
Hypocalcemia, Hypermagnesemia, Pericardial effusion, Abnormal T-wave, Type II diabetes mellitus, ... |
ORPHA:358 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Retinal dystrophy... |
ORPHA:49827 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Orthostatic hypotension, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Sudden cardiac death, Tachycardia, Elevated circulating cre... |
OMIM:614921 |
| Long Qt Syndrome 11 |
|
Prolonged QT interval, Syncope |
OMIM:611820 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613695 |
| Atrial Standstill 2 |
|
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... |
OMIM:615745 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
| Naxos Disease |
|
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... |
OMIM:601214 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Hyponatremia, Hypokalemia, Congestive heart failure, Elevated circulating creatine ki... |
ORPHA:682 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Snakebite Envenomation |
|
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa... |
ORPHA:449285 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... |
OMIM:616201 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556037 |
| Danon Disease |
|
Arrhythmia, Dilated cardiomyopathy, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-Whi... |
OMIM:300257 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... |
OMIM:606069 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia |
OMIM:605676 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Hypotension, Hyponatremia, Shock, Hyperglycemia, Bradycardia, Abnormal... |
ORPHA:391673 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Arrhythmia, Hyponatremia, Increased circulating renin level, Hypovolemic shock, Hyperkalemia |
ORPHA:171876 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoglycemia, Congestive heart failure, C... |
ORPHA:2022 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556030 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Short Qt Syndrome 1 |
|
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... |
OMIM:609620 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG |
OMIM:178650 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Irritability, Hypoglycemia |
OMIM:229700 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... |
ORPHA:99106 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... |
ORPHA:31824 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Ventricular extrasystoles, Tachycardia, Syncope |
OMIM:192445 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... |
ORPHA:216694 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Cholera |
|
Hypocalcemia, Hypotension, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokale... |
ORPHA:173 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... |
OMIM:609621 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating ... |
OMIM:310200 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope |
OMIM:600919 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Hepatomegaly, Hypertriglyceridemia, Ta... |
OMIM:613327 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Hepatomegaly, Neonatal ... |
ORPHA:348 |
| Hereditary Coproporphyria |
|
Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Naxos Disease |
|
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... |
ORPHA:34217 |
| Acquired Methemoglobinemia |
|
Palpitations, Arrhythmia, Tachycardia, Anxiety, Syncope |
ORPHA:464453 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| Myofibrillar Myopathy 10 |
|
Increased circulating troponin I concentration, Increased QRS voltage, Left ventricular hypertrop... |
OMIM:619040 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... |
ORPHA:368 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Paragangliomas 3 |
|
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... |
OMIM:605373 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration |
ORPHA:264675 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Vitreous floaters, Atrioventricular block, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly |
OMIM:618052 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... |
OMIM:115197 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Hypoglycemia, Ventricular tachycardia, Ventricular fibrillation, Elevated cir... |
OMIM:616878 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope |
ORPHA:871 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hypotension, Hyponatremia |
OMIM:264350 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine k... |
OMIM:255120 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... |
OMIM:601419 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cognitive impairment, Abnormal EKG |
ORPHA:1177 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abn... |
ORPHA:466650 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... |
ORPHA:3093 |
| Long Qt Syndrome 9 |
|
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest |
OMIM:611818 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Anxiety |
ORPHA:83601 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Tachycardia, Hypertension, Ventricular septal defect |
OMIM:613870 |
| Long Qt Syndrome 12 |
|
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope |
OMIM:612955 |
| Paragangliomas 1 |
|
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... |
OMIM:168000 |
| Malignant Hyperthermia Of Anesthesia |
|
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Supr... |
ORPHA:423 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... |
ORPHA:542323 |
| Double Outlet Right Ventricle |
|
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Dou... |
ORPHA:3426 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
| Hsd10 Mitochondrial Disease |
|
Progressive neurologic deterioration, Aggressive behavior, Hypoglycemia, Retinal degeneration, Op... |
OMIM:300438 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... |
OMIM:600996 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Pheochromocytoma |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... |
OMIM:171300 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Tetanus |
|
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pulmonary arterial hypertension, Hyperuricemia, Hypomagnesemia, Diabetes mellitus |
OMIM:613845 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:617222 |
| Stiff-Person Syndrome |
|
Agoraphobia, Hypertension, Tachycardia, Anxiety, Diabetes mellitus |
OMIM:184850 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Tachycardia, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:91354 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased plasma carnitine, Hyperammonemia, Endocardial fibroelastosis, Impaired gluconeogenesis,... |
OMIM:212140 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
| Hydroxykynureninuria |
|
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia |
ORPHA:90036 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... |
ORPHA:427 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
| Infant Botulism |
|
Hypotension, Hyponatremia, Cardiac arrest, Hypertension |
ORPHA:178478 |
| Central Diabetes Insipidus |
|
Hyponatremia, Anxiety |
ORPHA:178029 |
| Legionnaires Disease |
|
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Hyponatremia, Splenomegaly, Myocarditis |
ORPHA:549 |
| Refsum Disease, Classic |
|
Arrhythmia, Elevated levels of phytanic acid, Retinal degeneration, Congestive heart failure, Car... |
OMIM:266500 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Hepatomegaly, Cong... |
OMIM:235200 |
| Atrial Fibrillation, Familial, 4 |
|
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... |
OMIM:611493 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... |
OMIM:163800 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia |
OMIM:300952 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Apathy, Hyponatremia, Abnormal circulating po... |
ORPHA:100924 |
| Whipple Disease |
|
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Hyponatremia, Hepatom... |
ORPHA:3452 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... |
OMIM:267700 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Elevated circulating crea... |
ORPHA:268 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave, Decreased circul... |
ORPHA:231625 |
| Porphyria Variegata |
|
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration, Anxiety |
ORPHA:79473 |
| Mercury Poisoning |
|
Hypotension, Hypokalemia, Tachycardia, Hypertension |
ORPHA:330021 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Hepatomegaly, Myocardial infarc... |
ORPHA:330001 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concent... |
OMIM:232400 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia |
OMIM:610021 |
| Friedreich Ataxia |
|
Abnormal echocardiogram, Congestive heart failure, Optic atrophy, Diabetes mellitus, Abnormal EKG... |
OMIM:229300 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Arrhythmia, Transient hyperlipidemia, Hypoglycemia, Sudden cardiac death, Hepatomegaly, Hypertrop... |
ORPHA:156 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Euphoria,... |
ORPHA:31826 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
| Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Hypotension, Ketotic hypoglycemia, Hyponatremia, Hyperkalemia, Hypertrophi... |
ORPHA:361 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morpholog... |
ORPHA:485405 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... |
OMIM:115200 |
| Relapsing Fever |
|
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... |
ORPHA:91547 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemic seizures, Arrhythmia, Elevated circulating creatine kinase concentration, Hypoglycem... |
ORPHA:480864 |
| Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Ir... |
ORPHA:36913 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Splenomegaly |
ORPHA:90033 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Orthostatic hypotension, Ele... |
ORPHA:230 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
| Al Amyloidosis |
|
Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Abnormal hea... |
ORPHA:85443 |
| Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage |
ORPHA:335 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... |
OMIM:610198 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased plasma carnitine, Reduced ejection fraction, Nonketotic hypoglycemia, Sudden cardiac de... |
OMIM:201475 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Atrial flutter, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Hyponatremia, Hypertension, Tachycardia, Optic atrophy |
ORPHA:1764 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Dilated cardiomyopathy, Hypog... |
OMIM:618120 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia, Anxiety, Memory impairment, Mental deterioration |
ORPHA:79276 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Inc... |
ORPHA:95409 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Serotonin Syndrome |
|
Hypotension, Hypertension, Tachycardia, Irritability, Anxiety, Mental deterioration |
ORPHA:43116 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Gitelman Syndrome |
|
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Hypokalemi... |
OMIM:263800 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperglycinemia, Hyperamylasemia, Hypoglycemia, Hyperalaninemia, Elevated circulating creatine ki... |
OMIM:619386 |
| Jervell And Lange-Nielsen Syndrome |
|
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope |
ORPHA:90647 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Atrioventricular block, Sinus bradycardia, Elevated circulating creatine kinase con... |
OMIM:616812 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:90791 |
| Glucocorticoid Resistance, Generalized |
|
Hypertension, Anxiety, Hypoglycemia |
OMIM:615962 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Double outlet right ventric... |
ORPHA:1667 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypocalcemia, Hematochezia, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbumin... |
OMIM:618183 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... |
OMIM:223900 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Hypercalcemia, T... |
ORPHA:199299 |
| Cocaine Intoxication |
|
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... |
ORPHA:90068 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Atrial septal defect, Patent foramen ovale, Enlarged kidney,... |
ORPHA:505248 |
| Hepatocellular Carcinoma |
|
Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chiari syndrome, Hypogly... |
ORPHA:88673 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... |
OMIM:617713 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Eleva... |
ORPHA:439232 |
| Congenital Sialidosis Type 2 |
|
Abnormal heart morphology, Yellow/white lesions of the retina, Hepatomegaly, Optic atrophy, Hypop... |
ORPHA:93400 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Hypoketotic hypoglycemia,... |
ORPHA:5 |
| Eisenmenger Syndrome |
|
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... |
ORPHA:97214 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Epistaxis, Hypertension, Hypokalemia, Prolonged QT interval, Left ventri... |
ORPHA:251274 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Retinal degeneration, Hypoglycemia, Hyperalaninemia, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:618329 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... |
ORPHA:36234 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Hyponatremia, Hypoglycemia, Bradycardia |
ORPHA:91355 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Arrhythmia, Abnormality of iron homeostasis, Apathy... |
ORPHA:465508 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Arrhythmia, Ventricular septal defect, Hyponatremia, Hypoglycemia, Abnorm... |
ORPHA:2162 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Decreased plasma total carnitine, Hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated ... |
ORPHA:42 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Anxiety, Hypertension |
OMIM:176000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Dementia, Diabetes mellitus, Bradycardia, Cardiomyopathy |
OMIM:609286 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Intracranial hemorrhage, Hypoglycemia |
OMIM:617053 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Abnormal cardiac ventricu... |
ORPHA:2394 |
| Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Atrial septal defect, Elevated circulating sebacic acid concentration, Increased ... |
OMIM:615160 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Progressive neurologic deterioration, Hyperammonemia, Optic atrophy, Hypoglycemia |
OMIM:618253 |
| Pituitary Apoplexy |
|
Hypotension, Hypertension, Hyponatremia, Hypoglycemia |
ORPHA:95613 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Cognitive impairment, Hyperlipidemia, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Abnormality of retinal pigmentatio... |
ORPHA:167 |
| Paragangliomas 4 |
|
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... |
OMIM:115310 |
| Addison Disease |
|
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circul... |
ORPHA:85138 |
| Sepsis In Premature Infants |
|
Hypotension, Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Sp... |
ORPHA:90051 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Recurrent hypoglycemia, Hyponatremia |
ORPHA:293978 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Impaired glucose tolerance, Bradycardia, Glucose intolerance |
OMIM:614407 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Myocarditis |
ORPHA:810 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Bradycardia |
OMIM:614653 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia, Irritability, Tachycardia |
ORPHA:39812 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Hyperalaninemia, Cardiomegaly, Pulmonary arteri... |
OMIM:619051 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Hyponatremia, Hypertension, Myocardial infarction,... |
ORPHA:90038 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypocalcemia, Hypovolemia, Hypouricemia, Elevated circulating creatinine concen... |
ORPHA:411634 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Bradycardia |
OMIM:614498 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Papilledema, Elevated circulating creatine kinas... |
OMIM:618775 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the optic nerve, Abnormal retinal morphology, Third degree atrioventricular... |
ORPHA:40366 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... |
ORPHA:1880 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:214700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Elevated circulating creatine kinase concentration, Prolonged QT interval |
OMIM:615351 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hypovolemia, Hypotension, Psychomotor deterioration, Hyponatremia, Pulmonar... |
ORPHA:275761 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Hepa... |
ORPHA:398124 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin level,... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin level,... |
ORPHA:289548 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Rett Syndrome |
|
Motor deterioration, Abnormal T-wave, Prolonged QTc interval, Dementia |
OMIM:312750 |
| Cystinosis, Nephropathic |
|
Decreased plasma carnitine, Progressive neurologic deterioration, Pigmentary retinopathy, Hypopho... |
OMIM:219800 |
| Familial Atrial Myxoma |
|
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... |
ORPHA:615 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Palpitations, Right ventricular failure, Increased HDL cholesterol concentration, Cardiac shunt, ... |
ORPHA:70591 |
| Ogden Syndrome |
|
Arrhythmia, Atrial septal defect, Ventricular septal defect, Ventricular extrasystoles, Ventricul... |
OMIM:300855 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Arrhythmia, Prolonged QT interval |
ORPHA:2151 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension |
OMIM:619064 |
| Dextrocardia |
|
Situs inversus totalis, Abnormal heart morphology, T-wave inversion, Dextrocardia, Abnormal EKG |
ORPHA:1666 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hypocalcemic tetany, Irritability, Anxiety, Prolonged QT interval, Hyperphosphatemi... |
ORPHA:94089 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
ORPHA:90790 |
| Carney Triad |
|
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage |
ORPHA:139411 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Arrhythmia, Decreased plasma total carnitine, Abnormal myocardium morphology, Hypoketotic hypogly... |
ORPHA:228308 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d... |
OMIM:619170 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Increased serum pyruva... |
OMIM:619355 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Dementia, Exaggerated startle response |
OMIM:272800 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Hepatomegaly, Tachycardia, Splenomegaly, Syncope |
ORPHA:98849 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Palpitations, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolonged QT inter... |
OMIM:170390 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia, Tachycardia |
ORPHA:521219 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia |
OMIM:613090 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Cardiomyopathy, Hypoglycemia |
OMIM:616483 |
| Truncus Arteriosus |
|
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... |
ORPHA:3384 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia |
OMIM:618182 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hypertensive crisis, Hypertension, Myocarditis, Diabetes mellitus, Hy... |
ORPHA:544482 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hyperinsulinemia, Aggressive behavior, Insulin resi... |
ORPHA:273 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, Bradycardia |
OMIM:610015 |
| Mucopolysaccharidosis, Type Iiib |
|
Progressive neurologic deterioration, Asymmetric septal hypertrophy, Aggressive behavior, Hepatom... |
OMIM:252920 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... |
OMIM:617877 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... |
OMIM:229310 |
| Friedreich Ataxia 2 |
|
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... |
OMIM:601992 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Aggressive behavior, Supraventricular tachycardia with an accessory connect... |
ORPHA:404443 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly... |
OMIM:261680 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hypoglycemia |
OMIM:618839 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... |
ORPHA:324410 |
| Dilated Cardiomyopathy With Ataxia |
|
Neonatal hypoglycemia, Elevated circulating glutaric acid concentration, Muscular ventricular sep... |
ORPHA:66634 |
| Renal Nutcracker Syndrome |
|
Tachycardia, Orthostatic hypotension, Syncope |
ORPHA:71273 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertrophic cardiomyopathy |
OMIM:618835 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia |
OMIM:602522 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Enlarged kidney, Hyponatremia, Hypertension, Splenomegaly, Cognitive... |
ORPHA:731 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... |
ORPHA:99125 |
| Japanese Encephalitis |
|
Cognitive impairment, Hyponatremia |
ORPHA:79139 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly, Hypertension |
OMIM:618886 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Diabet... |
OMIM:302900 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Dementia, Abnormal heart morphology, Pigmentary retinopathy, Subdural hem... |
ORPHA:79282 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Increased circulating renin level, Emotional lability, Hypokalemia, Hypochloremia, ... |
ORPHA:89938 |
| Congenital Tricuspid Valve Dysplasia |
|
