Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction |
OMIM:608320 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoa... |
OMIM:264350 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Bradycardia, H... |
OMIM:601005 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Hype... |
ORPHA:171876 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l... |
OMIM:613677 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Myo... |
ORPHA:563 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris |
OMIM:614025 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Chronic mucocutaneo... |
ORPHA:36913 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, Elevated circulating cr... |
ORPHA:26793 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... |
ORPHA:90065 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat... |
ORPHA:94090 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... |
OMIM:300257 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... |
OMIM:212138 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free fatty acid leve... |
ORPHA:276575 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Acne, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level,... |
OMIM:615830 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati... |
OMIM:600649 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration |
OMIM:619040 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... |
ORPHA:231632 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Recurrent pneumonia |
OMIM:602079 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, Syncope, Palpit... |
ORPHA:276556 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Premature thelarche, Elevated... |
OMIM:616878 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Syncope, Type I diabete... |
ORPHA:276580 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... |
OMIM:620211 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Episodic hyperhidrosis, Hyp... |
ORPHA:324575 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Hyperhidrosis |
ORPHA:2151 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperaldosteronism, Pulm... |
OMIM:615474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration |
OMIM:615351 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Dilated cardiomyopathy, A... |
ORPHA:398124 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Chronic mucocutaneous can... |
ORPHA:3453 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... |
ORPHA:159 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... |
ORPHA:71212 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Tubulointerstitial nephritis, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:310300 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... |
OMIM:616834 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171420 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic... |
ORPHA:276608 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hyperactive... |
OMIM:607364 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Hypercholesterolemia, Precocious puberty, Maturity-onset diabetes of the ... |
ORPHA:254531 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Decreased response to growth hormone stimulation test, Pseudoh... |
ORPHA:94089 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hyperaldosteronism, Hypoc... |
ORPHA:73224 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Angina pectori... |
ORPHA:412 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:480864 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:214700 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... |
ORPHA:786 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
East Syndrome |
|
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Elevated circulati... |
ORPHA:90068 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Minimal change glomerulonephritis, Pulmonary embolism, Peritonitis, Hypoalb... |
ORPHA:567548 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transf... |
ORPHA:139507 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Renovascular hypertension, Type II diabetes mellitu... |
ORPHA:401923 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Elevated circulating creati... |
ORPHA:542323 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Cholangitis, Sclerosing cholangitis, Hypertension, Cholecystitis, Hypercholest... |
ORPHA:69663 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Cardiomyopathy |
ORPHA:1177 |
Laron Syndrome |
|
Abnormality of the endocrine system, Osteoarthritis, Hypohidrosis, Delayed puberty, Hypercholeste... |
ORPHA:633 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentration, Right vent... |
ORPHA:97287 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Acute infectious pneumonia, Tachycardia, Elevated car... |
ORPHA:264675 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Decreased circulating T4 concent... |
ORPHA:90674 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... |
ORPHA:31826 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Bilateral cryptorchidism, Dilated cardiomyopathy, Elevated circulating glu... |
ORPHA:66634 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... |
ORPHA:90791 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Congestive heart failure,... |
ORPHA:528 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Increased total bilirubin |
ORPHA:90037 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Bacterial endocar... |
ORPHA:97214 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia, Minimal change glomerulonephritis |
OMIM:616730 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, R... |
OMIM:616222 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugated hyperbiliru... |
OMIM:619662 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension |
ORPHA:70587 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79444 |
Tularemia |
|
Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Inflammatory a... |
ORPHA:3392 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Hydroxykynureninuria |
|
Stomatitis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171300 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Portal hype... |
OMIM:278000 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Eczema, Minimal change glomerulonephritis |
OMIM:618348 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... |
OMIM:601678 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Hyperkalemia,... |
ORPHA:90790 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Tachycardia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Increased level of galactitol in plasma, Hyperg... |
ORPHA:79237 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperhidrosis, Panc... |
ORPHA:263455 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Recurrent otitis media,... |
ORPHA:96184 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... |
ORPHA:860 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Hypovolemia, Gou... |
ORPHA:90041 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta... |
ORPHA:39812 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Elevated circulating creatine concentration |
OMIM:300352 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Decrea... |
ORPHA:79644 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating... |
ORPHA:89938 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus... |
ORPHA:97289 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Hyperinsuli... |
ORPHA:230 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalem... |
ORPHA:466650 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Interstitial pneumonitis, Hypotension |
ORPHA:330021 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation, Hashimoto thyroiditis |
ORPHA:94125 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Insulin-resist... |
OMIM:151660 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... |
ORPHA:139411 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Increased LDL cholesterol concentration, Cholesterol gallstones,... |
ORPHA:209902 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Endocarditis, Abnorma... |
ORPHA:3093 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase c... |
OMIM:614921 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Cheilitis, Arthritis, Hypokalem... |
ORPHA:534 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Aspiration pneumonia, Hyperhidrosis |
ORPHA:79264 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Hyperthyroidism, Maculopapular exanthema, Hypercalcemia, P... |
ORPHA:797 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Ogden Syndrome |
|
Eczema, Maternal diabetes, Cryptorchidism, Ventricular tachycardia, Premature ventricular contrac... |
OMIM:300855 |
Mirizzi Syndrome |
|
Tachycardia, Pancreatitis, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal d... |
ORPHA:521219 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasia/Hypoplasi... |
ORPHA:3426 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis |
OMIM:184850 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Diabetes mellitus, Cardiac arrest |
ORPHA:49827 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Shortened QT interval, Primary hyp... |
ORPHA:99880 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag... |
ORPHA:363618 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Increased circulating NT-proBNP concentration, Tachycard... |
ORPHA:466677 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchi... |
ORPHA:1772 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... |
OMIM:201810 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... |
ORPHA:85443 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Shortened QT interval, Primary hyp... |
ORPHA:143 |
Leprechaunism |
|
Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, Incr... |
ORPHA:508 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Delayed puberty, Chronic otitis media, Hypercholesterol... |
ORPHA:819 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Decreased response to growth hormone stimulation test, Pineal cyst, Pulmon... |
ORPHA:529962 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Paradoxical increased cortisol secre... |
ORPHA:96253 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:602522 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Cln3 Disease |
|
T-wave inversion, Acne, Bradycardia, Increased circulating androgen concentration |
ORPHA:228346 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension |
OMIM:620029 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... |
ORPHA:2457 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypokalemia, Hypovolemic shock, Hypo... |
ORPHA:173 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Enterocolitis, Gout, Ulcerative colitis, Thyroid... |
ORPHA:79259 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Eczema, Increased serum testosterone level |
ORPHA:96181 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension |
OMIM:611489 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Arthriti... |
OMIM:210250 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hypocholesterolemia |
OMIM:610883 |
Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage |
ORPHA:335 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure |
OMIM:229300 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Tachycardia, Decreased response to growth hormone stimulation test |
ORPHA:485405 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycystic ovaries, Car... |
ORPHA:264580 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Bilateral cryptorchidism, Decreased LDL cholesterol... |
OMIM:618156 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Giant cell hepatitis, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri... |
ORPHA:79473 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con... |
OMIM:223900 |
Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth... |
ORPHA:97278 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Hyperkalemia, Hypovolemia, Primary adr... |
ORPHA:275761 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis, Decreased testicular size |
OMIM:610644 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Hyperhidrosis, Tachycardia, Pneumonia, Glomerulonephritis, Epistaxis, Hematemesis, Hyperka... |
ORPHA:340 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated... |
ORPHA:97283 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir... |
ORPHA:268 |
Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth... |
ORPHA:97261 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Skin rash, Hypercalcemi... |
ORPHA:97280 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, ... |
ORPHA:562 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevate... |
ORPHA:97282 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Ovarian neoplasm, Palpitati... |
ORPHA:100079 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Recurre... |
ORPHA:980 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... |
ORPHA:391665 |
Steinert Myotonic Dystrophy |
|
Decreased serum testosterone concentration, Atrial fibrillation, Prolonged QRS complex, Left vent... |
ORPHA:273 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Hyperhidrosis, Hypohidrosis, Hypertension |
ORPHA:1764 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage... |
ORPHA:99826 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Enterocolitis, Bradycardia, H... |
ORPHA:90051 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Supernumerary nipple, Cryptorchidism, Cardiomyopathy,... |
ORPHA:373 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Increased circulat... |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Increased circulat... |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Increased circulat... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Increased circulat... |
ORPHA:99226 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Abnormal atriov... |
ORPHA:280365 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Hyperhidrosis |
ORPHA:43116 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, P... |
ORPHA:79240 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Rh Deficiency Syndrome |
|
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Skin rash |
OMIM:618321 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Hypergonadotropic hypogonadism, Hypothyroidism, Cardiomyopathy, Hypoalbuminemia, St... |
OMIM:212065 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration, Exocri... |
OMIM:300972 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia |
OMIM:614653 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypercholester... |
OMIM:248370 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Congestive heart failure, Decreased LDL cholesterol conc... |
ORPHA:14 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Conjunctivi... |
ORPHA:505248 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval |
ORPHA:86309 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Angular cheilitis |
ORPHA:35858 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Telangiectasia |
ORPHA:93400 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia, Hyperhidrosis |
ORPHA:79276 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Abnormality of the ... |
ORPHA:3385 |
Plague |
|
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Enterocolitis,... |
ORPHA:707 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Rec... |
OMIM:606721 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Cryptorchidism, Recurrent pneumonia, ... |
ORPHA:79324 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Hyperthyroidism, Elevated circulating creatine kinase concentration, Diabete... |
ORPHA:254892 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Diabetic ketoacidosis, Congestive heart fai... |
OMIM:601992 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia... |
ORPHA:681 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Hyperhidrosis, Cardiomyopathy, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Hypoplasia of the thymus, Abnormal heart valve physiology, Pul... |
ORPHA:3384 |
Dubowitz Syndrome |
|
Cryptorchidism, Eczema, Otitis media, Hypocholesterolemia |
OMIM:223370 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Papillary thyroid carcinoma, Exocrine pancreatic insu... |
OMIM:118450 |
Smith-Lemli-Opitz Syndrome |
|
Eczema, Precocious puberty, Cryptorchidism, Hypertension, Hypoalbuminemia, Elevated circulating 7... |
OMIM:270400 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... |
OMIM:309000 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Hamamy Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Mitral regurgitation, Prolonged QRS complex |
OMIM:611174 |
Degcags Syndrome |
|
Tachycardia, Pneumonia, Cryptorchidism, Rhinitis, Hyperbilirubinemia, Pulmonic stenosis, Pulmonar... |
OMIM:619488 |
Congenital Heart Defects, Multiple Types, 9 |
|
Pulmonic stenosis, Left axis deviation |
OMIM:620294 |
Doors Syndrome |
|
Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism |
ORPHA:79500 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Cryptorchidism |
ORPHA:444072 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Pyelonephritis, Hypohidrosis, Hypertension, Breast aplasia, Supraventri... |
OMIM:181270 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Cardiac-Urogenital Syndrome |
|
Cryptorchidism, Tachycardia, Unilateral cryptorchidism |
OMIM:618280 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Xanthelasma, Pulmonic stenosis, Ovarian neoplasm |
ORPHA:137605 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |