Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... |
ORPHA:45452 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Narcolepsy Type 1 |
|
Obesity, Transient global amnesia, Syncope |
ORPHA:2073 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Tachycardia, Agitation, Increased body weight |
ORPHA:276608 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... |
ORPHA:276556 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... |
ORPHA:276575 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Large for gestational age, Agitation, Hypertrophic cardiomyopathy, Palpitations, Polypha... |
ORPHA:276580 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Syncope, Large for gestational age, Agitation, Palpitations, Polyphagi... |
ORPHA:324575 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... |
OMIM:612124 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation |
OMIM:615770 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... |
OMIM:616201 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Hypertension, Polyphagia, Obesity |
ORPHA:71529 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Supraventricular tachycardia, Dysphagia |
OMIM:255100 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension, Anxiety |
OMIM:121300 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Cognitive impairment, Polyphagia, Attention deficit hyperactivity disorder, Obesity,... |
ORPHA:369873 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Emotional lability |
OMIM:309585 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Myocarditis, Reduced left ventricular ejection ... |
ORPHA:563 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Obesity, Hypertension |
OMIM:608320 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Anxiety, ... |
OMIM:613670 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Abnormal c... |
ORPHA:90064 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Bardet-Biedl Syndrome 5 |
|
Obesity, Cognitive impairment |
OMIM:615983 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Motor deterioration, Dementia, Emotional lability, Anxiety, Dysphagia, Tach... |
ORPHA:79264 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Obesity, Memory impairment, Tachycardia |
OMIM:619737 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Weight loss |
OMIM:188580 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight |
OMIM:620065 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:618725 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
16P12.1P12.3 Triplication Syndrome |
|
Hyperactivity, Failure to thrive, Attention deficit hyperactivity disorder, Skin-picking, Nail-bi... |
ORPHA:485405 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas, Anxiety |
OMIM:103200 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Small for gestational age, Failure to thrive, Anxiety |
OMIM:609425 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
OMIM:612158 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Agitation, Progressive neurologic deterioration, Tachycardia, Increase... |
ORPHA:263455 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... |
OMIM:604169 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Bulimia, Aortic regurgitation, Mitral regurgitation, Overweight,... |
OMIM:614651 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Acquired Methemoglobinemia |
|
Syncope, Arrhythmia, Palpitations, Anxiety, Tachycardia |
ORPHA:464453 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Interphalangeal thumb joint contracture, Hypertension, Agitation, Tachycardia |
OMIM:613870 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inguinal hernia, Failure to thrive |
OMIM:618362 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa... |
OMIM:613424 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity |
OMIM:301013 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia... |
ORPHA:26793 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Aggressive behavior, Self-injurious behavior, Large for gestational age, Agitation |
OMIM:616116 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Hypotension, Cerebral ischemia, Pseudobulbar paralysis, Cardiogenic shoc... |
ORPHA:449285 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome |
OMIM:617182 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... |
OMIM:613873 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Obesity, Polyphagia |
ORPHA:329249 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Emotional lability, Polyphagia, Abnormal eating behavior, Obesity |
OMIM:614963 |
Paragangliomas 3 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:605373 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... |
ORPHA:263297 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Cognitive impairment, Severely reduc... |
OMIM:300257 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Polyphagia, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Polyphagia, Obesity |
ORPHA:71526 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Polyphagia, Self-mutilation |
OMIM:616521 |
Serotonin Syndrome |
|
Hypotension, Hypertension, Agitation, Anxiety, Mental deterioration, Irritability, Restlessness, ... |
ORPHA:43116 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Small for gestational ag... |
ORPHA:860 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Congestive heart failure, Polyphagia, Irritability |
OMIM:275000 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Failure to thrive in infancy, Tachycardia |
ORPHA:264675 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Hyperactivity, Tachycardia |
OMIM:609152 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Obesity, Congestive heart failure, Hypertension |
OMIM:615703 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia, Happy demeanor |
ORPHA:411515 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Failure to thrive, Prolonged QT interval, Lipodystrophy, Dysphagia, Bradycar... |
OMIM:613327 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... |
ORPHA:137675 |
Paragangliomas 1 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:168000 |
Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:611878 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Irritabili... |
OMIM:261600 |
Central Precocious Puberty |
|
Overgrowth, Obesity, Increased body weight |
ORPHA:759 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro... |
OMIM:613690 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension, Dysphagia |
ORPHA:3299 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... |
OMIM:601214 |
Juvenile Huntington Disease |
|
Hyperactivity, Irritability, Dementia, Weight loss |
ORPHA:248111 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Arrhythmia, Obesity |
OMIM:600430 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Stiff-Person Syndrome |
|
Tachycardia, Agoraphobia, Hypertension, Anxiety |
OMIM:184850 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Facial telangiectasia, Contracture of the proximal interphala... |
OMIM:620141 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Polyphagia |
OMIM:614962 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... |
ORPHA:37553 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Cognitive impairment, Telangiectasia |
ORPHA:459033 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Graft Versus Host Disease |
|
Fasciitis, Lipodystrophy, Failure to thrive, Dupuytren contracture, Irritability, Tachycardia |
ORPHA:39812 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Increased body weight |
ORPHA:589905 |
Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Supraventricular tachycardia with an accessory connection mediated pathway, ... |
ORPHA:404443 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... |
ORPHA:542323 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Attention deficit hyperactivity disorder, Anxiety, Slender build, Pu... |
OMIM:617600 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Failure to thrive, Ventricul... |
OMIM:300952 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia |
OMIM:229700 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia |
OMIM:602668 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia |
OMIM:145600 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Bundle branch block, Dysphagia, Bradyphrenia, Obesity, Firs... |
ORPHA:589821 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, Euphoria, Alco... |
ORPHA:31826 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Hereditary Coproporphyria |
|
Atypical scarring of skin, Tachycardia |
ORPHA:79273 |
Double Outlet Right Ventricle |
|
Failure to thrive, Pulmonic stenosis, Tachycardia, Heart murmur |
ORPHA:3426 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Gitelman Syndrome |
|
Hypotension, Failure to thrive, Prolonged QT interval, Ventricular tachycardia, Palpitations, Sal... |
OMIM:263800 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased body weight |
OMIM:614450 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... |
OMIM:613426 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Attention deficit hyperactivity disorder, Increased body weight |
OMIM:274300 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
Insulinoma |
|
Polyphagia, Palpitations, Anxiety, Transient global amnesia, Increased body weight |
ORPHA:97279 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... |
ORPHA:98855 |
Acute Intermittent Porphyria |
|
Memory impairment, Anxiety, Pseudobulbar paralysis, Hypertension, Mental deterioration, Restlessn... |
ORPHA:79276 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
Hydroxykynureninuria |
|
Hypotension, Tachycardia |
ORPHA:79155 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... |
OMIM:616878 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... |
ORPHA:261 |
Porphyria Variegata |
|
Tachycardia, Scarring, Hypertension, Anxiety |
ORPHA:79473 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Dorsocervical fat pad, Hypertension, Emotional lability, Increased body weight |
OMIM:615830 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ventricular tachycardia, Syncope, Dilated cardiomyopathy |
OMIM:615821 |
Sepsis In Premature Infants |
|
Hypotension, Decreased body weight, Small for gestational age, Bradycardia, Tachycardia |
ORPHA:90051 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Anxiety, Hypertension, Agitation, Hypertensive crisis, Arrhythmi... |
ORPHA:94093 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Congestive heart failure, Hypertension, Emotional lability, Fai... |
ORPHA:525731 |
Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension, Anxiety |
OMIM:176000 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Tachycardia, Weight loss |
ORPHA:35858 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular tachycardia, Arrhythmia, Irritability, Cardiomyopathy |
ORPHA:159 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Obesity, Self-m... |
ORPHA:412035 |
Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Morgagni-Stewart-Morel Syndrome |
|
Cognitive impairment, Suicidal ideation, Hypertension, Obesity, Memory impairment |
ORPHA:77296 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Aggressive behavior, Irritability, Dilated cardiomyopathy |
OMIM:618321 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Achilles tendon con... |
ORPHA:98863 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
Relapsing Fever |
|
Hypotension, Epistaxis, Tachycardia |
ORPHA:91547 |
Scorpion Envenomation |
|
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... |
ORPHA:466677 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Cognitive impairment |
OMIM:612463 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Wagro Syndrome |
|
Aggressive behavior, Hypertension, Agitation, Emotional lability, Polyphagia, Anxiety, Low frustr... |
OMIM:612469 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Atrial Standstill 2 |
|
Scarring, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wav... |
OMIM:615745 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Intracranial hemorrhage, Agitation, Internal hemorrhage, Shoc... |
ORPHA:340 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Smith-Magenis Syndrome |
|
Hyperactivity, Head-banging, Self-mutilation, Increased body weight |
OMIM:182290 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
Paragangliomas 4 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:115310 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... |
OMIM:224700 |
Mercury Poisoning |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:330021 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia |
ORPHA:348 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Skin-picking, Mental deterioration, Low frustration tolerance... |
ORPHA:163681 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity, Pulmonic stenosis |
OMIM:619239 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Tricuspid regurgitation |
OMIM:600151 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Polyphagia, Polydipsia, Truncal obesity |
OMIM:615986 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Cellulitis, Fasciitis, Shock, Capillary leak, Myocarditis, Tachycardia |
ORPHA:36234 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171300 |
Cholera |
|
Hypotension, Hypovolemic shock, Irritability, Tachycardia |
ORPHA:173 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, Corneal scarring, Hypertension, Bradycardia, Tachycardia |
OMIM:614653 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:98849 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Ventricular arrhythmia, Supraventricul... |
ORPHA:280365 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Emotional lability |
OMIM:223900 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Polyphagia |
OMIM:617885 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Dilated cardiomyopathy, Aborted sudden car... |
OMIM:614921 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Hypertension, Increased body weight |
OMIM:615954 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Adrenocortical Carcinoma |
|
Weight loss, Hypertension, Panic attack, Palpitations, Anxiety, Irritability, Increased body weight |
ORPHA:1501 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... |
ORPHA:99827 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Anxiety, Irrit... |
ORPHA:36913 |
Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy |
OMIM:600996 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Obesity, Polyphagia, Emotional lability |
ORPHA:179494 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Self-injurious behavior, Increased body weight |
OMIM:300860 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Flexion contracture, Hernia, Congestive heart failure, Hypertrop... |
ORPHA:505248 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... |
ORPHA:1686 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Supraventricular tachycardia, Ventricular tachycardia, High-ou... |
ORPHA:423 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia |
ORPHA:254534 |
Carney Triad |
|
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:139411 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Cognitive impairment, Hypertension, Emotional lability, Dorsocervical fat pad, Memory impairment,... |
ORPHA:189427 |
Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Supraventricular tachycardia, Right bundle branch block, Heart m... |
ORPHA:97214 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Dementia, Emotional lability, Overweight, Dysphagia, Orthostatic hypotension, Mental deterioratio... |
ORPHA:2822 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Memory impairment, Cognitive impairment, Abnormal subcutaneous fat tissue distribution, Hypertens... |
ORPHA:189439 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Wilson Disease |
|
Failure to thrive, Aggressive behavior, Weight loss, Increased body weight |
ORPHA:905 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Cognitive impairment |
OMIM:616267 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Failure to thrive, Left bundle branch block, Ventricular bigeminy, Arrhythmia |
OMIM:610131 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Premature ventricular contraction, Contracture of the distal interphalan... |
OMIM:617072 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia |
OMIM:617877 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Wolff-Parkinson-White syndrome, Hypertension, Inguinal hernia, Shortened PR... |
OMIM:614947 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Hypertension |
ORPHA:1764 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Myocardial infarction, Obesity, Hypertension |
OMIM:618620 |
Perrault Syndrome 4 |
|
Obesity, Cognitive impairment, Disproportionate tall stature |
OMIM:615300 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cognitive impairment, Reduced left ventricular ejection fraction, Anxiety, Ventricular arrhythmia... |
ORPHA:254892 |
Ogden Syndrome |
|
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Minimal subcut... |
OMIM:300855 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Marburg Hemorrhagic Fever |
|
Hypotension, Aggressive behavior, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillar... |
ORPHA:99826 |
Sotos Syndrome |
|
Aggressive behavior, Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Increase... |
OMIM:117550 |
1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Self-injurious behavior, Abnormal eating behavior, Obesity, Self-mutilation |
ORPHA:293948 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear/anxiety-related behavior, Hypertension, Emotional lability, Obesity, Abdominal obesity |
OMIM:219090 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Obesity, Tachycardia |
ORPHA:1772 |
Degcags Syndrome |
|
Pulmonary arterial hypertension, Small for gestational age, Choking episodes, Failure to thrive, ... |
OMIM:619488 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Polyphagia |
OMIM:609734 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Cognitive impairment, Failure to thrive, Impulsivity, Polyphagia, Skin-picki... |
ORPHA:398069 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity, Low pulse pressure |
ORPHA:86816 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Legius Syndrome |
|
Multiple lipomas, Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Attention d... |
ORPHA:137605 |
Steinert Myotonic Dystrophy |
|
Supraventricular tachycardia, Aggressive behavior, Cognitive impairment, Dilated cardiomyopathy, ... |
ORPHA:273 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Cushing Disease |
|
Memory impairment, Suicidal ideation, Capillary fragility, Hypertension, Dementia, Dorsocervical ... |
ORPHA:96253 |
Familial Gestational Hyperthyroidism |
|
Agitation, Hyperactivity, Weight loss |
ORPHA:99819 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Cognitive impairment |
OMIM:615989 |
Plague |
|
Hypotension, Arrhythmia, Anxiety, Hematemesis, Tachycardia |
ORPHA:707 |
Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Hypovolemia, Angina pectoris, Hypertension, Myocardial infarct... |
ORPHA:90041 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy, Failure to thrive, Increased body weight |
ORPHA:264580 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Weight loss, Scarring, Heart block, Ventricular tachycardi... |
ORPHA:797 |
Scalp-Ear-Nipple Syndrome |
|
Hypertension, Supraventricular tachycardia, Congestive heart failure, Multiple lipomas |
OMIM:181270 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Weight loss, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart f... |
ORPHA:91347 |
Hellp Syndrome |
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Hypotension, Cerebral hemorrhage, Internal hemorrhage, Increased body weight |
ORPHA:244242 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... |
OMIM:620066 |
Truncus Arteriosus |
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Aortic regurgitation, Abnormal heart valve physiology, Pulmonic stenosis, Tachycardia |
ORPHA:3384 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Marshall-Smith Syndrome |
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Pulmonary arterial hypertension, Decreased body weight, Hypertension, Premature ventricular contr... |
OMIM:602535 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Memory impairment, Weight loss, Suicidal ideation, Anxiety, Capillary fragility, Hypertension, De... |
ORPHA:99889 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arr... |
OMIM:309801 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight |
ORPHA:2298 |
Cardiac-Urogenital Syndrome |
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Congenital diaphragmatic hernia, Tachycardia |
OMIM:618280 |
Congenital Total Pulmonary Venous Return Anomaly |
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Pulmonary arterial hypertension, Right ventricular failure, Mitral regurgitation, Low-output cong... |
ORPHA:99125 |
Carney Complex |
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Hypertension, Congestive heart failure, Dorsocervical fat pad, Tall stature, Abdominal obesity, I... |
ORPHA:1359 |