Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Gout, Myocardial infarction, Hypercholesterolemia, Diabetes mellitu... |
OMIM:610947 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Adrenogenital syndrome, Hyp... |
OMIM:103900 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:615703 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... |
ORPHA:94090 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... |
ORPHA:251274 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:404 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:403 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... |
ORPHA:231625 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Adrenocortical Carcinoma |
|
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... |
ORPHA:1501 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... |
OMIM:301033 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:264350 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:177735 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Hypovolemic shock, Atopic dermatitis, Pustule, Abnormal circulating a... |
ORPHA:171876 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Hypokalemia, Decreased circulating renin level, Hyperaldostero... |
OMIM:613677 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Distal Myopathy, Tateyama Type |
|
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Palpitations, ... |
ORPHA:231580 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:369929 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Hyperhidrosis, Sudd... |
ORPHA:34217 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Bradycardia, Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris |
OMIM:614025 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures,... |
ORPHA:36913 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Inflammatory abnormality of the skin, Prolonged QT inter... |
ORPHA:26793 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... |
OMIM:610198 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Hypertension, Abnormal response to corticotropin releasing horm... |
ORPHA:189427 |
Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Episodic hyperhidrosis, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Elevated circ... |
OMIM:212138 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Increased QRS voltage, Prolonged QTc interval... |
OMIM:619040 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... |
OMIM:603373 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:600649 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... |
OMIM:615830 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Hyperaldosteronism |
OMIM:619406 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Trimethylaminuria |
|
Hypertension, Recurrent pneumonia, Tachycardia |
OMIM:602079 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Episodic hyperhidrosis, Excessive insulin response to gluca... |
ORPHA:276556 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concen... |
OMIM:616878 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Goiter, Palpitations, Tachycardia, Hyperthyroidism |
OMIM:613239 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Episodic hyperhidrosis, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Goiter, Palpitations, Tachycardia, Hyperthyroidism |
OMIM:188580 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Hyperhidrosis |
ORPHA:2151 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Episodic hyperhidrosis, Maternal diabetes, Excessive insulin response to glucagon test, ... |
ORPHA:324575 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Prolonged QTc interval, Serosit... |
ORPHA:231111 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Epistaxis, Glucoc... |
ORPHA:231632 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... |
ORPHA:94089 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Macronodular adrenal hyperplasia, Primary hypercortisolism, In... |
OMIM:219080 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Dia... |
ORPHA:77296 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Malar rash, A... |
ORPHA:398124 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Elevated circulating creatine kinase concentration, Prolonged QT interval |
OMIM:615351 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... |
OMIM:615954 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... |
OMIM:600996 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Hyperammonemia, Elevated creatine kinase after exercise,... |
ORPHA:159 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Reduced ejection fraction, Atrial fibrillatio... |
ORPHA:217607 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Hyperinsulinemic hypo... |
ORPHA:71212 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypercholesterolemia, Hypogonadism, Diabetes mellitus |
ORPHA:181393 |
Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, T... |
OMIM:613327 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:201910 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Hypertriglyce... |
OMIM:616222 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Delayed puberty, Hypom... |
OMIM:263800 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Hyperkalemia, Ventricular tachycardia, Supraventricular tachyc... |
ORPHA:423 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Hyperaldosteronism, Hyperchloriduria, Increase... |
OMIM:607364 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... |
OMIM:171420 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:615812 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Hypocholesterolemia, Decreased LDL cholesterol concentration, Blephariti... |
OMIM:616834 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Episodic hy... |
ORPHA:79102 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia, Hyperhidrosis, Hyp... |
ORPHA:276608 |
Coronary Arterial Fistula |
|
Syncope, Bacterial endocarditis, Systolic heart murmur, Continuous heart murmur, Palpitations, El... |
ORPHA:2041 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Orthostatic hypotension, Ele... |
ORPHA:556037 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism |
OMIM:214700 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypocalcemic tetany, Hypomagnesemia, Congestive heart failure, Hyperaldos... |
ORPHA:73224 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:202110 |
Histiocytoid Cardiomyopathy |
|
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... |
ORPHA:137675 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Palpitations, Elevated circulating creat... |
OMIM:602668 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Tubulointerstitial nephritis, Ventricul... |
ORPHA:90068 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Abnormal EKG, Hyperamm... |
ORPHA:480864 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... |
ORPHA:412 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Diabetes mellitus, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Hypokalemia, ... |
OMIM:170390 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Recurrent otitis ... |
ORPHA:254531 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Pheochromocytoma, Palpitations, Increased circulating cortisol level, Medullary thy... |
OMIM:171400 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Orthostatic hypotension, Ele... |
ORPHA:556030 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
East Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism |
ORPHA:199343 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Hypertension, Decreased circulating aldosterone level, Increased urinary cor... |
ORPHA:786 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Tachycardia, Hyperphosphatemia,... |
OMIM:145600 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Conge... |
OMIM:310200 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Type II diabetes mellitus, H... |
ORPHA:189439 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610489 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Elevated circulating creatinine concentration, Tachycardia, Heart bloc... |
ORPHA:542323 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... |
ORPHA:567548 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Cholangitis, Cholelithiasis, Pancreatitis, Hypercholesterolemia, Diabetes mellitus,... |
ORPHA:69663 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
African Iron Overload |
|
Abnormal thyroid morphology, Elevated hepatic iron concentration, Peritonitis, Increased circulat... |
ORPHA:139507 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Hypohidrosis, Osteoarthritis, Delayed ... |
ORPHA:633 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Pneumonia, Palpitations, Increased serum seroto... |
ORPHA:97287 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Hyperkalemia, Prolonged QT interval, Atrial fibrillation, Tachycardia, Gastr... |
ORPHA:31826 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Hypocholesterol... |
ORPHA:90363 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Prolonged QT interval, Bilateral cryptorchidism, Elevated circulating glu... |
ORPHA:66634 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... |
ORPHA:401923 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... |
ORPHA:97214 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration,... |
ORPHA:264675 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Increased total bilirubin |
ORPHA:90037 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thy... |
ORPHA:90674 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Tachycardia, Goiter, Thyroid hyperplasia |
OMIM:609152 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
Ogden Syndrome |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... |
OMIM:300855 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Precocious puberty in females, Polycystic ovaries, Hypercholesterole... |
ORPHA:528 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... |
OMIM:202010 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Hypercholesterolemia, Minimal change glomerulonephritis, Hypoalbuminemia |
OMIM:616730 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... |
ORPHA:90791 |
Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Cardiac Diverticulum |
|
Premature ventricular contraction, Syncope, Tricuspid stenosis, Endocarditis, Palpitations, Ventr... |
ORPHA:1686 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Conjunctivitis, Hypocalcemic tetany, Prolonged QT... |
ORPHA:79444 |
Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hydroxykynureninuria |
|
Stomatitis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension |
ORPHA:79155 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... |
OMIM:604169 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration |
OMIM:144010 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Bile duct proliferation, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbiliru... |
OMIM:619662 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hepatitis, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency,... |
ORPHA:199296 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Tularemia |
|
Pneumonia, Tachycardia, Otitis media, Inflammatory abnormality of the eye, Skin rash, Erythema no... |
ORPHA:3392 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:613090 |
Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism |
OMIM:612780 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Capillary leak, Infectious enceph... |
ORPHA:36234 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... |
OMIM:614022 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hyperactive renin-angiotensin system, Hypokalemia, Increased serum prostaglandin E... |
OMIM:601678 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypertension, Conjunctivitis, Hypocalcemic tetany... |
ORPHA:79443 |
Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... |
OMIM:171300 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypercholesterolemia, Hypoalbuminemia, Incre... |
ORPHA:86816 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Eczema, Hypercholesterolemia, Minimal change glomerulonephritis |
OMIM:618348 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating fatty-acid concentration, Tachycardia, Pancre... |
ORPHA:263455 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased LDL cholesterol concent... |
OMIM:278000 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hyponatremia, Hyperkalemia, Macroorchidism, Hyperactive renin-angiotensin sy... |
ORPHA:90790 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypercholesterolemia, Premature ovarian insufficiency, Hypergonadotropic hypog... |
ORPHA:79237 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... |
ORPHA:652 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating cre... |
ORPHA:466650 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Orthostatic syncope, Elevated circulating creatinine concentrat... |
ORPHA:230 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Cryptorchidis... |
ORPHA:96184 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:602522 |
Acquired Methemoglobinemia |
|
Palpitations, Syncope, Arrhythmia, Tachycardia |
ORPHA:464453 |
Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Maternal diabetes, Abnormality of blood circulation, Tachycardia, Congestiv... |
ORPHA:860 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Endocarditis, Increased QRS voltage,... |
ORPHA:3093 |
Recessive Mitochondrial Ataxia Syndrome |
|
Hashimoto thyroiditis, ST segment elevation, Increased serum pyruvate |
ORPHA:94125 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Hypercalcemia, Neoplasm of the thymus, Increased circulating cortisol le... |
ORPHA:97289 |
Gaisböck Syndrome |
|
Hypertension, Hyperproteinemia, Elevated diastolic blood pressure, Gout, Hyperuricemia, Myocardia... |
ORPHA:90041 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Tachycardia, Hy... |
ORPHA:39812 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hepatitis, Hypercholesterolemia, Cholesterol gallstones,... |
ORPHA:209902 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary corticotropic cell a... |
ORPHA:913 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Hypercholesterolemia, Increased circulating chylo... |
OMIM:238600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Carney Triad |
|
Hypertension, Adrenal overactivity, Adrenocortical adenoma, Tachycardia, Paraganglioma, Gastroint... |
ORPHA:139411 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Hypercalcemia, Adenoma sebaceum, Increased circulating cortisol level, In... |
OMIM:131100 |
Paragangliomas 4 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Paraganglioma... |
OMIM:115310 |
Mercury Poisoning |
|
Hypertension, Interstitial pneumonitis, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Polyc... |
OMIM:151660 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Hypercalcemia, Keratoconjunctivitis sicca, Tubulointerstit... |
ORPHA:797 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland |
OMIM:182290 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Decreased serum insulin-like growth factor 1, Elevated circulating creati... |
OMIM:614921 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Pancreatitis, Hyperchol... |
ORPHA:247585 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... |
ORPHA:466677 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal salivary gland morphology, Abnormal P wave, Xerostomia, Inc... |
ORPHA:85443 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased serum prostaglandin E2, Hypochloremi... |
OMIM:241200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Diabetes insipidus, Hypokalemia, Chronic otitis media, Cheilitis, Hypophosphatemia,... |
ORPHA:534 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Shortened QT interval, Hypercalcemia, Thyroid car... |
ORPHA:99880 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Pulmonic stenosis, Aplasia/Hypoplasia of the thymus, Hypocalcemi... |
ORPHA:3426 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal echocardiogram, Congestive heart failure, Diabetes mellitus... |
OMIM:229300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Tachycardia, Hyperhidrosis |
ORPHA:79264 |
Nelson Syndrome |
|
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... |
ORPHA:199244 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Shortened QT interval, Hypercalcemia, Thyroid car... |
ORPHA:143 |
Mirizzi Syndrome |
|
Gallbladder perforation, Pancreatitis, Cholelithiasis, Tachycardia, Hyperbilirubinemia, Cholester... |
ORPHA:521219 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Elevated circulating C-reactive protein conc... |
ORPHA:70591 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Increased radioactive iodine upta... |
ORPHA:95716 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... |
OMIM:174800 |
Sitosterolemia 1 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Arthritis, Hyperapobetalipop... |
OMIM:210250 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Epistaxis, Tachycardia, Increased total bilirubin,... |
ORPHA:91547 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Hypercholesterolemia, Pulmonary carc... |
ORPHA:363618 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Diabetes mellitus |
ORPHA:49827 |
Leprechaunism |
|
Hypertrophic cardiomyopathy, Central hypothyroidism, Hypokalemia, Enlarged ovaries, Hyperaldoster... |
ORPHA:508 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ovarian serous cystadenoma, Unilateral cryptorchidism, Prolonged QT interval, Streak ovary, Recur... |
ORPHA:1772 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Pituitary Apoplexy |
|
Hypertension, Increased circulating prolactin concentration, Hyponatremia, Hypergonadotropic hypo... |
ORPHA:95613 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Acute pancreatitis, D... |
ORPHA:99827 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Heart block |
ORPHA:1964 |
17Q24.2 Microdeletion Syndrome |
|
Pineal cyst, Recurrent otitis media, Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hypertension, Hyperphosphatemia, Hyponatremia, Hypernatremia, Elevated circulating ... |
ORPHA:94093 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Polycystic ovaries, Cardiomyopathy, Hyperchol... |
ORPHA:370 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Decreased serum insulin-like growth factor 1, Hyperlipidemia, Hypogonadotropic h... |
OMIM:241080 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia, Hydrocele testis |
OMIM:618810 |
Cholera |
|
Hyponatremia, Hypovolemic shock, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Aspiration ... |
ORPHA:173 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Bilateral cryptorchidism, Elev... |
OMIM:618156 |
Stiff-Person Syndrome |
|
Hypertension, Hyperhidrosis, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Mandibuloacral Dysplasia |
|
Insulin-resistant diabetes mellitus, Increased circulating free fatty acid level, Hypercholestero... |
ORPHA:2457 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertension, Inflammation of the large intestine, Hyperlipidemia, Epistaxis, Polycystic ovaries,... |
ORPHA:79259 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentrat... |
ORPHA:64753 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Smith-Magenis Syndrome |
|
Chronic otitis media, Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Precocious pube... |
ORPHA:819 |
Cushing Disease |
|
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Capillary fragility, Increas... |
ORPHA:96253 |
Ppoma |
|
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... |
ORPHA:97278 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Tachycardia |
ORPHA:335 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Reduced ejection fraction, Righ... |
ORPHA:268 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... |
ORPHA:95699 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Polycystic ovaries, Cardiomyopathy, Hyperchol... |
ORPHA:264580 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Eczema, Congenital adrenal hyperplasia, Hydrocele testis |
ORPHA:96181 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hypomagnesemia, H... |
ORPHA:89938 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Homozygous Familial Hypercholesterolemia |
|
Hypertension, Mitral regurgitation, Heart murmur, Supravalvular aortic stenosis, Hyperlipidemia, ... |
ORPHA:391665 |
Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... |
ORPHA:99413 |
Turner Syndrome |
|
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... |
ORPHA:99228 |
Monosomy X |
|
Hypertension, Abnormality of the ovary, Inflammation of the large intestine, Prolonged QT interva... |
ORPHA:99226 |
Somatostatinoma |
|
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... |
ORPHA:97283 |
Glucagonoma |
|
Adrenocortical adenoma, Hypercalcemia, Stomatitis, Increased circulating cortisol level, Neoplasm... |
ORPHA:97280 |
Grfoma |
|
Adrenocortical adenoma, Pheochromocytoma, Hypercalcemia, Neoplasm of the thymus, Increased circul... |
ORPHA:97261 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... |
ORPHA:90673 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Episodic hyperhidrosis, Orthostatic hypotension, Elevated circulating creatinine co... |
OMIM:223900 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Decreased testicular size, Palmoplantar hyperhidrosis, Hypertriglyceridemia |
OMIM:610644 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia, Hyperhidrosis |
OMIM:614653 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased ser... |
ORPHA:3464 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Hypertension, Hyperphosphatemia, Intracranial hemorrhage, Hyperkalemia, Tubulointerstitial... |
ORPHA:340 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Giant cell hepatitis |
OMIM:607765 |
Porphyria Variegata |
|
Hypertension, Hyponatremia, Inappropriate antidiuretic hormone secretion, Tachycardia, Abnormal c... |
ORPHA:79473 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Pulmonary arterial hypertension, Primary adrenal insufficiency, Hyper... |
ORPHA:275761 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Tachycardia |
ORPHA:485405 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypothyroidism |
OMIM:610883 |
Absence Of The Pulmonary Artery |
|
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Bronchiectasis, Pulmonary ... |
ORPHA:980 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Atrio... |
ORPHA:98855 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Intracranial hemorrhage, Increased circulating ... |
ORPHA:90795 |
Marburg Hemorrhagic Fever |
|
Hyperammonemia, Uveitis, Maculopapular exanthema, Capillary leak, Hyperamylasemia, Pericarditis, ... |
ORPHA:99826 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Cardiomyopathy, Bundle branch block, Pancreatic islet-cell hyperplasia, Cr... |
ORPHA:373 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia |
OMIM:613426 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... |
ORPHA:99889 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... |
ORPHA:98853 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
Familial Dysautonomia |
|
Hypertension, Hyponatremia, Orthostatic hypotension, Tachycardia, Hyperhidrosis, Hypohidrosis |
ORPHA:1764 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Testicular atrophy, Non-medullary thyroid carcinoma, Atrial fibrillation,... |
ORPHA:273 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Tricuspid stenosis, Palpitations, Increased serum serotonin, Primary hypercorti... |
ORPHA:100079 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Bilateral cryptorchidism, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Enterocolitis, Elevated circulating C-reactive protein concentration, H... |
ORPHA:90051 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Decreased HDL cholesterol concentration, Ventricular arrhythmia, Pol... |
ORPHA:280365 |
Tsh-Secreting Pituitary Adenoma |
|
Ventricular arrhythmia, Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-... |
ORPHA:91347 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Hyperhidrosis |
ORPHA:43116 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98863 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Polycystic ovaries, Hypertriglyceridemia, Elevated circulating creatine kin... |
ORPHA:79240 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Tachycardia, Hyperbilirubinemia |
ORPHA:71275 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Dextrocardia |
|
Abnormal EKG, Pancreatic hypoplasia, T-wave inversion |
ORPHA:1666 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Hypocholesterolemia, Cardiomyopathy, Hypothyroidism, Hypoalbumine... |
OMIM:212065 |
Vipoma |
|
Adrenocortical adenoma, Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Neoplas... |
ORPHA:97282 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Tubulointerst... |
ORPHA:470 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... |
ORPHA:96180 |
Friedreich Ataxia And Congenital Glaucoma |
|
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Dia... |
OMIM:229310 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Patterson Pseudoleprechaunism Syndrome |
|
Premature adrenarche, Increased circulating cortisol level, Diabetes mellitus |
OMIM:169170 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnorma... |
ORPHA:14 |
Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Diabetic ketoacidosis, Congestiv... |
OMIM:601992 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, Tachycardia, ... |
ORPHA:505248 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG |
ORPHA:93400 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Angular cheilitis |
ORPHA:35858 |
African Trypanosomiasis |
|
Myocarditis, Abnormal prolactin level, Third degree atrioventricular block, Pericarditis, Abnorma... |
ORPHA:3385 |
Acute Intermittent Porphyria |
|
Hypertension, Hyponatremia, Tachycardia, Hyperhidrosis |
ORPHA:79276 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Exocrine pancreatic insufficiency, Decreased circulating copper concentrati... |
OMIM:300972 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval |
ORPHA:86309 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
Plague |
|
Inflammation of the large intestine, Erythema nodosum, Endocarditis, Lymphadenitis, Chapped lip, ... |
ORPHA:707 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Tachycardia, Hypotension |
ORPHA:98849 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Diabetic ketoacidosis, Congestiv... |
OMIM:302900 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol l... |
ORPHA:249 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycar... |
ORPHA:404443 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Wolff-Parkinson-White syndrome, Shortened PR ... |
OMIM:232300 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Chronic rhinitis... |
ORPHA:79324 |
Carney Complex |
|
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... |
ORPHA:1359 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... |
ORPHA:254892 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Cardiac conduction abnormality, Cardiomyopathy, Hyperhidrosis, Arrhythmia |
ORPHA:2131 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Diabetes insipidus, Bile duct proliferation, Aortic regurgitation, Pulmonary... |
OMIM:619534 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Aortic regurgitation, Tachycardia, Pulmonic... |
ORPHA:3384 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Exocrine pancreatic insufficiency, Papillary thyroid carcinoma, Hypertrigly... |
OMIM:118450 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
Degcags Syndrome |
|
Pneumonia, Rhinitis, Pulmonary arterial hypertension, Hyperbilirubinemia, Tachycardia, Pulmonic s... |
OMIM:619488 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Cryptorchidism, Elevated amnioti... |
OMIM:309000 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Abnormal T-wave |
ORPHA:444072 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia |
ORPHA:79500 |
Legius Syndrome |
|
Xanthelasma, Paroxysmal atrial tachycardia, Ovarian neoplasm, Pulmonic stenosis |
ORPHA:137605 |
Smith-Lemli-Opitz Syndrome |
|
Eczema, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Recurrent otitis media, Cryptorchidis... |
OMIM:270400 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral regurgitation, Pulmonary arterial hypertension, Low-output cong... |
ORPHA:99125 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |