Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... |
OMIM:613697 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... |
OMIM:601493 |
Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613286 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... |
OMIM:611880 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
Muscular Dystrophy, Becker Type |
|
Arrhythmia, Cardiomyopathy, Abnormal EKG |
OMIM:300376 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613122 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... |
OMIM:115195 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613252 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in childhood, Death in ... |
OMIM:618189 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... |
OMIM:606685 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy |
OMIM:616500 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level |
OMIM:605115 |
Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... |
OMIM:605362 |
Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... |
OMIM:224700 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... |
OMIM:615344 |
Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... |
ORPHA:99106 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block |
ORPHA:206559 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Death in childhood, Death in infancy, Reduced systolic function, Ebstein ... |
OMIM:619492 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:302045 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis... |
ORPHA:556037 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... |
OMIM:619402 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Optic Atrophy 16 |
|
Paroxysmal tachycardia |
OMIM:620629 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... |
ORPHA:263297 |
Muscle Filaminopathy |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy |
ORPHA:171445 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... |
OMIM:310300 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Cardiomyopathy, Heart block |
ORPHA:98912 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... |
OMIM:177735 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... |
OMIM:613759 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circu... |
OMIM:203400 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... |
OMIM:181350 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis... |
ORPHA:556030 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... |
OMIM:613690 |
Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... |
OMIM:604169 |
Cardiac Lipidosis, Familial |
|
Death in infancy, Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:255160 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... |
OMIM:620236 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611615 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Ventricu... |
ORPHA:1354 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... |
ORPHA:2326 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... |
ORPHA:90064 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia |
OMIM:618453 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... |
OMIM:103900 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... |
OMIM:613255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death... |
OMIM:618845 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction |
ORPHA:334 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Prolonged QT inte... |
OMIM:610198 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... |
OMIM:115197 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... |
OMIM:601005 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... |
OMIM:185500 |
Glycogen Storage Disease 0, Muscle |
|
Stroke, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:611556 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
Desminopathy |
|
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... |
ORPHA:98909 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... |
OMIM:611705 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... |
ORPHA:398124 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block |
ORPHA:480 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:618126 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula... |
OMIM:616564 |
Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... |
ORPHA:1880 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... |
ORPHA:99050 |
Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
Congenital Myopathy 24 |
|
First degree atrioventricular block, Cardiomyopathy |
OMIM:617336 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... |
OMIM:208530 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... |
ORPHA:37553 |
Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Mitral stenosis, Death in infancy, Truncus arteriosus, Ventricular septal de... |
ORPHA:2008 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitral stenosis |
OMIM:617660 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Scheie Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis |
OMIM:607016 |
Familial Isolated Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:154 |
Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Death in infancy |
OMIM:615395 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... |
ORPHA:1457 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi... |
OMIM:620067 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... |
ORPHA:99104 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
Familial Hypoaldosteronism |
|
Hypotension, Adrenal insufficiency, Increased circulating renin level, Hyponatremia, Decreased ci... |
ORPHA:427 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy |
OMIM:619903 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... |
OMIM:601612 |
Dpm3-Cdg |
|
Stroke-like episode, Dilated cardiomyopathy |
ORPHA:263494 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Elevated left ventricular end-di... |
OMIM:612201 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... |
ORPHA:90065 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block |
ORPHA:254361 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval |
ORPHA:36913 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Ventricular ... |
OMIM:616777 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:177200 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy |
OMIM:604286 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Abnormal circulating aldosterone, Increased circulating renin level, Hyponatre... |
ORPHA:171876 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy, Bradycardia |
OMIM:618815 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Subvalvular aortic stenosis, Mitral stenosis |
OMIM:619461 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Atrial septal defect, Death in childhood, Ventricular septal de... |
OMIM:253300 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... |
OMIM:601198 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... |
OMIM:178600 |
Geleophysic Dysplasia 2 |
|
Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar... |
OMIM:614185 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension |
OMIM:620734 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure |
OMIM:608099 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:1345 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Palpitations, Syncope |
ORPHA:464453 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d... |
OMIM:300963 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita... |
OMIM:619167 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:206546 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy |
OMIM:612937 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy |
OMIM:300718 |
X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... |
ORPHA:163956 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy |
OMIM:300580 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Myopathy, Distal, 1 |
|
Left atrial enlargement, Dilated cardiomyopathy |
OMIM:160500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations |
ORPHA:276556 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Arrhythmia |
OMIM:618531 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Reduced systolic function |
OMIM:616827 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... |
OMIM:620300 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... |
ORPHA:26793 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Danon Disease |
|
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... |
OMIM:300257 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure |
OMIM:602390 |
Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block |
OMIM:602668 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Abnormal circulating aldosterone, Decreased circulating renin l... |
OMIM:300539 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation |
OMIM:613874 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... |
ORPHA:2299 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations |
ORPHA:276575 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced left ventricular ejection fraction, Right bundle branch block, Abnormal EKG |
ORPHA:268 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... |
ORPHA:991 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy |
OMIM:212130 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... |
ORPHA:90791 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations |
ORPHA:276580 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy |
ORPHA:34515 |
Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Rigid Spine Syndrome |
|
Cardiac conduction abnormality |
ORPHA:97244 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... |
OMIM:208000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Atrial Fibrillation, Familial, 8 |
|
Atrial fibrillation |
OMIM:613055 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
X Small Rings |
|
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect |
ORPHA:96201 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... |
OMIM:614492 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Death in childhood, Cardiomyopathy |
OMIM:619651 |
Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
Primary Ciliary Dyskinesia |
|
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... |
ORPHA:244 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Ventricular septal... |
ORPHA:3426 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... |
OMIM:132900 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... |
ORPHA:3093 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... |
OMIM:212138 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Coarctation of aorta, Patent ductus arteriosus, Mitral stenosis |
OMIM:617260 |
Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... |
ORPHA:1596 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia |
OMIM:310200 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiomyopathy, Tricu... |
OMIM:253200 |
Bartter Syndrome, Type 3 |
|
Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys... |
OMIM:607364 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... |
ORPHA:422 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... |
OMIM:615067 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Death in childhood... |
OMIM:611126 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Death in childho... |
OMIM:620609 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
Gitelman Syndrome |
|
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... |
ORPHA:358 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... |
OMIM:214700 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Arrhythmia, Abnormal EKG |
ORPHA:480864 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... |
OMIM:601186 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Acute Adrenal Insufficiency |
|
Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie... |
ORPHA:95409 |
Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo... |
ORPHA:56 |
Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615959 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... |
ORPHA:280679 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Mahvash Disease |
|
Palpitations |
OMIM:619290 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation |
OMIM:619576 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Death in infancy, Neonatal death |
OMIM:617184 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... |
OMIM:270100 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio... |
OMIM:613834 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:218030 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... |
ORPHA:449285 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... |
ORPHA:542323 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... |
ORPHA:2257 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension |
OMIM:613870 |
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... |
OMIM:170390 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:252011 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... |
OMIM:245150 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
ORPHA:1349 |
Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... |
ORPHA:93672 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... |
OMIM:616878 |
Myotonic Dystrophy 1 |
|
Atrial fibrillation, First degree atrioventricular block, Atrial flutter |
OMIM:160900 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:71212 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... |
ORPHA:732 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... |
OMIM:620025 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Mitral regurgitation, Cardiomyopathy |
OMIM:212112 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:615821 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Meacham Syndrome |
|
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... |
OMIM:608978 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... |
OMIM:540000 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
Marbach-Rustad Progeroid Syndrome |
|
Pulmonary insufficiency, Right bundle branch block |
OMIM:619322 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Death in infancy, Pulmonary insufficiency, P... |
OMIM:619433 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... |
ORPHA:79102 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Increased circulating renin level, Hyperuricemia, Angina pecto... |
ORPHA:90041 |
Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy |
ORPHA:171442 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hyperaldosteronism, Hypomagnesemia |
ORPHA:199343 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:161800 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyperten... |
OMIM:613677 |
Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
Gitelman Syndrome |
|
Hypotension, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardia, Delayed puberty,... |
OMIM:263800 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... |
ORPHA:90068 |
Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... |
OMIM:614823 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral re... |
ORPHA:75249 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... |
ORPHA:31826 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... |
ORPHA:95430 |
Addison Disease |
|
Thymoma, Hypotension, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, In... |
ORPHA:85138 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... |
OMIM:610205 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure |
ORPHA:49827 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... |
OMIM:300845 |
Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con... |
ORPHA:289548 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... |
OMIM:619534 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con... |
ORPHA:168558 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1166 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Myocardial infarction, Pulmonic ste... |
ORPHA:500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Death in childhood |
OMIM:618683 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia |
OMIM:613205 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia |
ORPHA:2928 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy |
OMIM:618120 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hypertension, Increased circulating renin level |
OMIM:612780 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Double Outlet Left Ventricle |
|
Systolic heart murmur, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicusp... |
ORPHA:3427 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... |
OMIM:106700 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
Geleophysic Dysplasia 1 |
|
Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension... |
OMIM:231050 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:255310 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... |
ORPHA:740 |
Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal lung lobation, Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic v... |
ORPHA:1120 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Pulmonary hypoplasia, Ventricular septal defect |
OMIM:615524 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mi... |
OMIM:143095 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death |
OMIM:619003 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension |
OMIM:620029 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyp... |
ORPHA:231580 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... |
OMIM:265450 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:371428 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy |
OMIM:615084 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Death in early adult... |
OMIM:605676 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy |
ORPHA:272 |
Barth Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... |
OMIM:302060 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... |
OMIM:612561 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... |
ORPHA:231632 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:330021 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... |
ORPHA:90308 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Mitral stenosis, Ventricular septal defect, Recurrent respiratory infectio... |
ORPHA:955 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... |
OMIM:616276 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... |
OMIM:230500 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy |
OMIM:614299 |
Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... |
OMIM:620642 |
Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy |
ORPHA:59135 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... |
ORPHA:466650 |
Tibial Muscular Dystrophy, Tardive |
|
Cardiomyopathy |
OMIM:600334 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
Myopathy, Distal, Tateyama Type |
|
Palpitations |
OMIM:614321 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
Keutel Syndrome |
|
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... |
ORPHA:85202 |
Fabry Disease |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... |
ORPHA:324 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Coar... |
OMIM:600460 |
Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... |
ORPHA:273 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu... |
OMIM:616501 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... |
OMIM:314400 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy |
ORPHA:352447 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia |
OMIM:611773 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... |
ORPHA:98855 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome |
OMIM:618234 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect |
ORPHA:2876 |
8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia |
ORPHA:168593 |
Kearns-Sayre Syndrome |
|
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy |
OMIM:530000 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy |
OMIM:602541 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... |
OMIM:614008 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... |
OMIM:300952 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ... |
OMIM:616166 |
Glycogen Storage Disease Ii |
|
Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa... |
OMIM:232300 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis |
ORPHA:228410 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:618378 |
Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... |
ORPHA:2729 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... |
ORPHA:98853 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating... |
OMIM:611489 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG |
ORPHA:230 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Relapsing Fever |
|
Tachycardia, Hypotension, Epistaxis |
ORPHA:91547 |
Dextrocardia |
|
T-wave inversion, Abnormal EKG |
ORPHA:1666 |
Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect |
ORPHA:1908 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... |
ORPHA:3342 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiot... |
OMIM:601678 |
Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy |
OMIM:606069 |
Isolated Atp Synthase Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy |
ORPHA:254913 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... |
ORPHA:369929 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... |
ORPHA:3097 |
Refsum Disease |
|
Cardiomyopathy, Heart block |
ORPHA:773 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... |
ORPHA:98863 |
Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia |
ORPHA:369873 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure |
ORPHA:85446 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflow tract obstruction, L... |
ORPHA:308552 |
Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... |
ORPHA:449400 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension |
ORPHA:139411 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... |
ORPHA:980 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... |
OMIM:620066 |
Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Bilateral trilobed lung |
OMIM:613630 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block |
OMIM:617021 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block |
OMIM:615474 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Arrhythmia |
OMIM:620208 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... |
OMIM:616652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... |
OMIM:253800 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... |
OMIM:615382 |
Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Idiopathic Pulmonary Arterial Hypertension |
|
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... |
ORPHA:275766 |
Transaldolase Deficiency |
|
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect, Telangiectasia |
ORPHA:101028 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... |
ORPHA:99901 |
Eisenmenger Syndrome |
|
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... |
ORPHA:97214 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Collagenoma, Familial Cutaneous |
|
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... |
OMIM:115250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Cardiomyopathy |
OMIM:608807 |
Hec Syndrome |
|
Arrhythmia, Cardiomyopathy |
ORPHA:2119 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy |
ORPHA:159 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy |
OMIM:607155 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... |
ORPHA:423 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonary artery atresia, Abnormal left... |
OMIM:301056 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion |
OMIM:234810 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Abnormal pulmonary ... |
ORPHA:974 |
Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... |
ORPHA:85443 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia |
ORPHA:2238 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Portal hypertension, Congestive heart ... |
ORPHA:367 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
Typhoid |
|
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis |
ORPHA:99745 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG |
ORPHA:93400 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... |
OMIM:249270 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval |
ORPHA:79444 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Precocious puberty, Increased circulating androgen concentration, Elevated ... |
ORPHA:90795 |
Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension |
ORPHA:279947 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Death in infancy, Bradycardia |
OMIM:610768 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Serotonin Syndrome |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:43116 |
Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokalemia, Decrea... |
ORPHA:320 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiotensin system, Hypomag... |
OMIM:241200 |
Mcleod Syndrome |
|
Atrial fibrillation, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:300842 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Co... |
OMIM:614921 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... |
OMIM:192430 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation |
ORPHA:1110 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childhood, Patent forame... |
OMIM:610505 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1926 |
Renal Nutcracker Syndrome |
|
Tachycardia, Syncope, Orthostatic hypotension |
ORPHA:71273 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Hypertension, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval |
OMIM:614947 |
Tetrasomy 15Q26 |
|
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus |
OMIM:614846 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... |
OMIM:314390 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:620113 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
Developmental And Epileptic Encephalopathy 111 |
|
Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Pulmonary artery stenosis, ... |
OMIM:620504 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... |
OMIM:264350 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... |
OMIM:615355 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... |
ORPHA:90793 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Orthostatic hypotension |
OMIM:223900 |
Scleromyxedema |
|
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... |
ORPHA:167635 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Familial Multiple Nevi Flammei |
|
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage |
ORPHA:624 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... |
OMIM:175050 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... |
ORPHA:99094 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... |
OMIM:617506 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... |
OMIM:615415 |
Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... |
ORPHA:397 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... |
ORPHA:89938 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension |
ORPHA:79443 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:609015 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure |
OMIM:617403 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... |
ORPHA:363618 |
Polyarteritis Nodosa |
|
Cardiomyopathy, Hypertension, Raynaud phenomenon, Abnormal lung morphology, Pleuritis, Pericarditis |
ORPHA:767 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication |
OMIM:259900 |
Friedreich Ataxia 2 |
|
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... |
OMIM:611812 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:266500 |
Porphyria Variegata |
|
Tachycardia, Hypertension |
ORPHA:79473 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... |
OMIM:123700 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... |
OMIM:618164 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Prolonged QT interval, Cardiomyopathy |
ORPHA:373 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... |
OMIM:202010 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
Dpagt1-Cdg |
|
Prolonged QT interval, Intracranial hemorrhage |
ORPHA:86309 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... |
OMIM:614437 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... |
ORPHA:2255 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Death in childhood |
OMIM:618321 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Hypotension, Increased circulating prolactin concentration, Hypopituitarism, ... |
ORPHA:91354 |
Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Abnormal lung morphology, Abnormal lung lobation, Anomalous origin of lef... |
ORPHA:141127 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock |
ORPHA:173 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi... |
ORPHA:99095 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac septum morphology, Patent ductus arteriosu... |
ORPHA:2712 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Infantile Refsum Disease |
|
Arrhythmia, Cardiomyopathy |
ORPHA:772 |
Coffin-Siris Syndrome 4 |
|
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:614609 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Aortic root aneurysm, Gener... |
OMIM:208050 |
American Trypanosomiasis |
|
Myocarditis, Arrhythmia, Cardiomyopathy, Congestive heart failure |
ORPHA:3386 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia |
OMIM:617877 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Erythermalgia, Primary |
|
Palpitations |
OMIM:133020 |
Congenital Isolated Acth Deficiency |
|
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circula... |
ORPHA:199296 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect |
ORPHA:261250 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia |
ORPHA:3201 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Arrhythmia, Cardiogenic shock, Ventricular septal defect |
ORPHA:276432 |
Familial Dysautonomia |
|
Tachycardia, Hypertension, Orthostatic hypotension |
ORPHA:1764 |
Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Arrhythmia |
ORPHA:57 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Death in infancy, Cardiomegaly, Arrhythmia, Antenatal intracerebral hemor... |
OMIM:608836 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Hypotension, Arrhythmia, Pericarditis |
ORPHA:188 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:616894 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Primary Hyperoxaluria |
|
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block |
ORPHA:416 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect |
OMIM:620511 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Pulmonary fibrosis |
OMIM:613989 |
Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome |
OMIM:619705 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:1194 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis |
OMIM:618223 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect |
OMIM:620210 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased... |
ORPHA:95619 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... |
ORPHA:94093 |
Hydrops Fetalis |
|
Arrhythmia, Capillary leak |
ORPHA:1041 |
Leprechaunism |
|
Central hypothyroidism, Hypertrophic cardiomyopathy, Hyperaldosteronism, Hyperinsulinemia, Hypoka... |
ORPHA:508 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy |
ORPHA:70595 |
Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... |
OMIM:249420 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... |
ORPHA:199241 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:235200 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak |
ORPHA:36234 |
Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... |
OMIM:610168 |
Recombinant 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, ... |
ORPHA:96167 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure |
OMIM:615895 |
Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormality of the pulmonary artery, Abnormal mitral valve morphology |
ORPHA:1131 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... |
OMIM:613001 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia |
ORPHA:3191 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Cardiomyopathy, Neonatal death |
OMIM:618839 |
Neuroendocrine Tumor Of The Colon |
|
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... |
ORPHA:100080 |
Marfan Syndrome |
|
Arterial dissection, Aortic regurgitation, Spontaneous pneumothorax, Aortic root aneurysm, Aortic... |
ORPHA:558 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear... |
ORPHA:444013 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
Melas |
|
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... |
ORPHA:550 |
Mosaic Trisomy 1 |
|
Pulmonary hypoplasia, Pulmonary artery atresia, Coarctation of aorta, Ventricular septal defect |
ORPHA:1692 |
Cap Myopathy |
|
Sinus tachycardia, Reduced systolic function |
ORPHA:171881 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... |
ORPHA:340 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Arrhythmia, Cardiomyopathy, Heart block |
ORPHA:228308 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... |
ORPHA:73224 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Botulism |
|
Arrhythmia |
ORPHA:1267 |
20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces,... |
ORPHA:261311 |
Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Pulmonary artery stenosis, Aortic regurgitation, Abnormal cardiac septum morphology |
ORPHA:140952 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect |
OMIM:614749 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy |
OMIM:251110 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D... |
ORPHA:90349 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Atelectasis, Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Cardiome... |
OMIM:620371 |
Marfan Syndrome |
|
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Pulm... |
OMIM:154700 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm... |
ORPHA:261494 |
Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... |
OMIM:142900 |
Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... |
OMIM:301500 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... |
ORPHA:505248 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri... |
ORPHA:52 |
Foodborne Botulism |
|
Arrhythmia |
ORPHA:228371 |
Pulmonary Arteriovenous Malformation |
|
Epistaxis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Ischemic st... |
ORPHA:2038 |
Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, A... |
OMIM:242840 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... |
OMIM:619573 |
Hughes-Stovin Syndrome |
|
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... |
ORPHA:228116 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Acute Intermittent Porphyria |
|
Tachycardia, Hypertension |
ORPHA:79276 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Mitral regurgitation, Mitral valve prolapse |
OMIM:607459 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Atrial septal defect, Ventricular se... |
OMIM:300998 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Peripheral pulmonary artery stenosis, Atrial septal defect |
ORPHA:436003 |
Alg3-Cdg |
|
Cardiomyopathy, Coarctation of the descending aortic arch |
ORPHA:79321 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Increased c... |
ORPHA:97287 |
Werner Syndrome |
|
Abnormal cerebral vascular morphology, Congestive heart failure, Atherosclerosis, Pulmonary arter... |
ORPHA:902 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Arrhythmia, Cardiomyopathy |
ORPHA:228305 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... |
ORPHA:391641 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... |
OMIM:618494 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary a... |
OMIM:280000 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... |
OMIM:265120 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Recurrent sinusitis, Stroke, Raynaud phe... |
OMIM:615688 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Supra... |
OMIM:219100 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Small vessel vasculitis |
ORPHA:3243 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
Distal Triplication 15Q |
|
Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus |
ORPHA:314588 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy |
OMIM:616541 |
Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Congestive heart failure |
ORPHA:682 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Dominant Beta-Thalassemia |
|
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure |
ORPHA:231226 |
Cornelia De Lange Syndrome 6 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect |
OMIM:620568 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Death in child... |
OMIM:613177 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia |
OMIM:600430 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:500159 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... |
ORPHA:3260 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... |
ORPHA:79345 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... |
ORPHA:79282 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia |
ORPHA:42 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
Syndromic Diarrhea |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... |
ORPHA:84064 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurg... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurg... |
ORPHA:100082 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Hypotension, Dilated cardiomyopathy |
ORPHA:20 |
Rheumatic Fever |
|
Myocarditis, Epistaxis, Arrhythmia, Pericarditis |
ORPHA:3099 |
Lymphatic Malformation 13 |
|
Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary arterial hypertension, Atri... |
OMIM:620244 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abnormal heart morphology, Neonatal death |
OMIM:619362 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal cerebral vascular morphology, Abnormal heart valve morphology, Di... |
ORPHA:363705 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Elevated circulating erythropoietin concentration, ... |
OMIM:263400 |
Kawasaki Disease |
|
Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... |
ORPHA:2331 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... |
ORPHA:2556 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... |
OMIM:300989 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Lymphatic Malformation 7 |
|
Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Varicose veins, Pericardial... |
OMIM:617300 |
Fryns Syndrome |
|
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal cardia... |
ORPHA:2059 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
Alternating Hemiplegia Of Childhood |
|
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave |
ORPHA:2131 |
Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventricula... |
ORPHA:254892 |
Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:615668 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Left v... |
ORPHA:365 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... |
OMIM:300166 |
Transaldolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Pate... |
OMIM:606003 |
Oculopharyngodistal Myopathy 1 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Dilated cardiomyopathy |
OMIM:164310 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Ventricular arrhythmia |
OMIM:620475 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Congenital Myopathy 12 |
|
Pulmonary artery stenosis, Death in infancy |
OMIM:612540 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... |
ORPHA:100078 |
Alstrom Syndrome |
|
Recurrent pneumonia, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis, Hypertension |
OMIM:203800 |
Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... |
ORPHA:727 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Beta-Thalassemia Major |
|
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure |
ORPHA:231214 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia |
OMIM:255120 |
Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia |
OMIM:313850 |
Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Heart block |
OMIM:617063 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction abnormality |
ORPHA:255210 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... |
OMIM:300707 |
Dengue Fever |
|
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia |
ORPHA:99828 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension, Diabetic ketoacidosis |
ORPHA:70578 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... |
ORPHA:96147 |
Ivic Syndrome |
|
Arrhythmia |
ORPHA:2307 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy |
ORPHA:89842 |
Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Hypokalem... |
ORPHA:31824 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia |
ORPHA:746 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... |
ORPHA:329224 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... |
OMIM:115470 |
Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Ventricular septal defect, Atrial septal de... |
ORPHA:1335 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... |
ORPHA:99826 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Prune Belly Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:2970 |
Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid r... |
ORPHA:100075 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect |
ORPHA:254534 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect |
OMIM:301030 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmona... |
OMIM:601559 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... |
OMIM:609192 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr... |
ORPHA:280365 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Noonan Syndrome |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Pulmonary artery ... |
ORPHA:648 |
Legionnaires Disease |
|
Myocarditis, Hypotension, Arrhythmia, Pericarditis |
ORPHA:549 |
3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:7 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Patent ductus arteriosus, Atr... |
OMIM:267010 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Aortic root aneurysm, Abnormal lung lobation, Tetralogy of Fallot, Patent... |
OMIM:607872 |
Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... |
ORPHA:509 |
Tyshchenko Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615102 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Cardiomyopathy, Palpitations, Angina pectoris, Arrhythmia, Low-output congestive heart failure |
ORPHA:565612 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617751 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
You-Hoover-Fong Syndrome |
|
Double aortic arch, Coarctation of aorta, Vascular ring |
OMIM:616954 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa... |
OMIM:187300 |
De Barsy Syndrome |
|
Prominent veins on trunk, Ventricular septal defect, Persistent left superior vena cava, Hypoplas... |
ORPHA:2962 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis |
ORPHA:435938 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Ogden Syndrome |
|
Pulmonary edema, Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de ... |
OMIM:300855 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent left superior vena cava, Pericardial effusion, Ventricula... |
OMIM:618775 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... |
OMIM:617159 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Arrhythmia, Mitral regurgitation |
ORPHA:254346 |
Cartilage-Hair Hypoplasia |
|
Cardiomyopathy, Heart block |
ORPHA:175 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Arrhythmia, Elevated jugular venou... |
ORPHA:465508 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Carpenter Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... |
OMIM:201000 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
Monosomy 18Q |
|
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Dysplastic ... |
ORPHA:1600 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618870 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Aortic arch aneurys... |
ORPHA:1606 |
Genetic Recurrent Myoglobinuria |
|
Arrhythmia |
ORPHA:99845 |
Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... |
OMIM:121050 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia |
ORPHA:3220 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, Abnormal lung... |
ORPHA:264450 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Hypotension, Decreased circulating dehydroepiandrosterone concentration, Impa... |
ORPHA:361 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
Charge Syndrome |
|
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... |
OMIM:214800 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Hamamy Syndrome |
|
Prolonged QRS complex, Mitral regurgitation |
OMIM:611174 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
16P11.2P12.2 Microdeletion Syndrome |
|
Tricuspid regurgitation, Arrhythmia |
ORPHA:261211 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
ORPHA:33001 |
Feingold Syndrome 1 |
|
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... |
OMIM:164280 |
Mucopolysaccharidosis Type 3 |
|
Reduced left ventricular ejection fraction, Atrioventricular block |
ORPHA:581 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypertension, Hematemesis, Shortened QT interval, Melena |
ORPHA:652 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Shock, Increased circulating procalcitonin concentration, Elevated circulating C-rea... |
ORPHA:36238 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Ventricular... |
OMIM:619575 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Meningococcal Meningitis |
|
Shock, Increased circulating procalcitonin concentration, Hypotension, Elevated circulating C-rea... |
ORPHA:33475 |
3P25.3 Microdeletion Syndrome |
|
Coronary artery atherosclerosis, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:435638 |
Diamond-Blackfan Anemia 7 |
|
Tetralogy of Fallot, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal ... |
OMIM:612562 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... |
OMIM:264480 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Arrhythmia, Congestive heart failure |
ORPHA:428 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Paten... |
OMIM:612582 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect |
ORPHA:1780 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin def... |
ORPHA:199299 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Phakomatosis Pigmentokeratotica |
|
Arrhythmia, Raynaud phenomenon |
ORPHA:2874 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
ORPHA:26791 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Hardikar Syndrome |
|
Portal hypertension, Patent foramen ovale, Ventricular septal defect, Pulmonary artery stenosis, ... |
OMIM:301068 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Right ventricular hypertrophy, Patent... |
ORPHA:280633 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu... |
ORPHA:90348 |
Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... |
ORPHA:2473 |
Emanuel Syndrome |
|
Aortic valve stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Paten... |
OMIM:609029 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypotension, Hypertension |
ORPHA:178478 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy |
ORPHA:85448 |
Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... |
OMIM:619329 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Arrhythmia |
OMIM:619184 |
African Trypanosomiasis |
|
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... |
ORPHA:3385 |
Plague |
|
Hypotension, Tachycardia, Arrhythmia, Hematemesis |
ORPHA:707 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Dilated cardiomyopathy, Pneumothorax, Bradycardia |
ORPHA:79404 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:250989 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:608149 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Port... |
OMIM:619503 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Abnormal pul... |
ORPHA:567 |
Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Tricuspid stenosis, Palpitations, Heart murmur |
ORPHA:100079 |
Immunodeficiency 49 |
|
Pulmonary artery stenosis |
OMIM:617237 |
Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypotension, Hypothyroidism |
ORPHA:85445 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Increased circulating prolactin concentration |
ORPHA:35708 |
Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... |
OMIM:118450 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension |
OMIM:614052 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, ... |
OMIM:105650 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral art... |
OMIM:600376 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... |
ORPHA:2396 |
Pituitary Apoplexy |
|
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... |
ORPHA:95613 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:617602 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614576 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... |
ORPHA:163979 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
Von Hippel-Lindau Disease |
|
Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert... |
ORPHA:892 |
Omodysplasia 1 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Ventricular septal defect, Dysplastic pulm... |
OMIM:601808 |
Localized Scleroderma |
|
Vasculitis, Arrhythmia, Raynaud phenomenon |
ORPHA:90289 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:615471 |
Mosaic Trisomy 16 |
|
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... |
ORPHA:1708 |
Hennekam-Beemer Syndrome |
|
Hypotension, Arrhythmia, Telangiectasia of the skin |
ORPHA:2135 |
Williams Syndrome |
|
Death in early adulthood, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect,... |
ORPHA:904 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:208085 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch |
OMIM:301111 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:609053 |
Phace Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... |
ORPHA:42775 |
Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Arrhythmia, Cardiomyopathy |
ORPHA:157 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Pulmonary arterial hypertension, Abn... |
ORPHA:667 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis |
ORPHA:292 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy |
OMIM:309801 |
Unilateral Polymicrogyria |
|
Abnormal heart morphology, Epistaxis, Stroke, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Degcags Syndrome |
|
Tachycardia, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:619488 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... |
ORPHA:17 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:457279 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... |
OMIM:157800 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:610733 |
Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614114 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:244300 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Dextrocardia, Ventricular septal defect |
OMIM:614294 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
OMIM:153400 |
Chromosome 9P Deletion Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Ventric... |
OMIM:158170 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect |
OMIM:613404 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Hyponatremia, Hypothyroidism, Myocarditis, Myocardial i... |
ORPHA:3452 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:270450 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis |
ORPHA:137605 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Sarcoidosis |
|
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... |
ORPHA:797 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Pulmonary artery stenosis, Dilatation of the ventricular cavity, Atrial septal defect, Ventricula... |
ORPHA:459070 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary arterial hypertension, Cardiomy... |
ORPHA:258 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Death in infancy, Hypoplastic pulmonary veins |
OMIM:610682 |
Prolactinoma |
|
Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Adrenocorticotropin deficien... |
ORPHA:2965 |
Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... |
OMIM:616462 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal aortic arch morphology, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Ventricular s... |
ORPHA:96334 |
Mowat-Wilson Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... |
OMIM:235730 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia |
OMIM:174000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Intestinal lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Atrial septal d... |
OMIM:235510 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
8Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Complete atrioventricular canal defect,... |
ORPHA:508488 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular septal defect, Atrial se... |
ORPHA:99776 |
Mgat2-Cdg |
|
Arrhythmia, Reflex asystolic syncope |
ORPHA:79329 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... |
OMIM:610443 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Situs inversus totalis, Portal hypertension, Death in childhood, Ventricu... |
OMIM:243800 |
Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Aortic aneurysm, Patent ductus arteriosus, Ventricular septal defect |
OMIM:130720 |
Necrotizing Enterocolitis |
|
Shock, Hypotension, Hyponatremia, Bradycardia |
ORPHA:391673 |
Vascular Ehlers-Danlos Syndrome |
|
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... |
ORPHA:286 |
Ulnar-Mammary Syndrome |
|
Arrhythmia |
ORPHA:3138 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Left superi... |
OMIM:602782 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:620024 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Asce... |
OMIM:615582 |
Wiskott-Aldrich Syndrome |
|
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... |
ORPHA:906 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor... |
ORPHA:453499 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ho... |
ORPHA:293978 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Elevated circulating parathyroid hormone level |
ORPHA:439822 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Hyperkalemia, Abnormal circulating dehydroepiandrosterone concentration, In... |
ORPHA:90794 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Hyperammonemia, Hyperuricemia |
ORPHA:134 |
Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... |
OMIM:180849 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Ventricular se... |
OMIM:235255 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Patent ductus arteriosus after premature birth, Ventricular septal defect |
OMIM:620454 |
Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... |
ORPHA:2745 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:620654 |
Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy |
ORPHA:79408 |
Chops Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... |
OMIM:616368 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Ventricular septal defect, Bicus... |
ORPHA:353281 |
Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... |
ORPHA:900 |
Williams-Beuren Syndrome |
|
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... |
OMIM:194050 |
Doors Syndrome |
|
Double outlet right ventricle, Aspiration pneumonia |
ORPHA:79500 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
Distal Duplication 5Q |
|
Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arrhythmia |
ORPHA:163746 |
Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal cerebral vascular morphology, Congest... |
ORPHA:79474 |
Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage |
ORPHA:79456 |
Chime Syndrome |
|
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... |
ORPHA:3474 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... |
OMIM:610759 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy |
ORPHA:2388 |
Familial Mediterranean Fever |
|
Vasculitis, Arrhythmia, Myocardial infarction, Pericarditis |
ORPHA:342 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect |
OMIM:277600 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:146510 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... |
OMIM:201750 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Ventricular septal defect |
ORPHA:268249 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypopituitarism, Decr... |
ORPHA:90695 |
Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Elevated circulating C-reactive protein concentration, Bradycardia, Myocardit... |
ORPHA:319213 |
Fanconi Anemia, Complementation Group N |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610832 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul... |
ORPHA:289 |
Acute Radiation Syndrome |
|
Telangiectasia, Hypotension |
ORPHA:454831 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Atrial septal defect, Abnormal cardiac septum morphology, Ventricular septa... |
ORPHA:209905 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Patent foramen ovale, Ventricula... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Patent foramen ovale, Ventricula... |
ORPHA:353277 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Aortic aneurysm, Atrial septal defect, Ventricular septal defect |
ORPHA:261330 |
Oculodentodigital Dysplasia |
|
Arrhythmia |
ORPHA:2710 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Coarctation of aorta, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:618454 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Ventricular septal defect |
ORPHA:1655 |
Oculodentodigital Dysplasia |
|
Arrhythmia |
OMIM:164200 |
Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Neonatal death, Ventricular septal defect, Transposition of the great arter... |
OMIM:256520 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... |
ORPHA:508498 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis |
OMIM:614099 |
Alexander Disease |
|
Precocious puberty, Hypotension, Hypothyroidism, Sudden cardiac death, Hypertension, Diabetes mel... |
ORPHA:58 |
Alg9-Cdg |
|
Abnormal heart morphology, Abnormal renal artery morphology, Ventricular septal defect, Atrial se... |
ORPHA:79328 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
Charge Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal aortic valve morphol... |
ORPHA:138 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Ventricular septal defect, Ascending aortic dissection, Patent ductus arte... |
OMIM:608328 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
Dermatomyositis |
|
Vasculitis, Sinus tachycardia, Arrhythmia, Pulmonary arterial hypertension, Telangiectasia of the... |
ORPHA:221 |
Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypertension |
ORPHA:2912 |
Autosomal Recessive Robinow Syndrome |
|
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morphology, Ab... |
ORPHA:1507 |
Robinow Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... |
ORPHA:97360 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... |
OMIM:612474 |
Peters Plus Syndrome |
|
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... |
ORPHA:709 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
Cerebellofaciodental Syndrome |
|
Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
Coffin-Siris Syndrome |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:1465 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypothyroidism, Hypertension |
ORPHA:93256 |
Digeorge Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... |
OMIM:188400 |
Codas Syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:600373 |
Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Adrenal calcification, Primary adrenal insufficiency, Hyponatremia, Pulmonary arteri... |
ORPHA:275761 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Larsen Syndrome |
|
Aortic aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
Marshall-Smith Syndrome |
|
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension |
OMIM:602535 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:257920 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia |
OMIM:250220 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:96191 |
Myhre Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Per... |
OMIM:139210 |
Amoebiasis Due To Free-Living Amoebae |
|
Arrhythmia |
ORPHA:68 |
Diamond-Blackfan Anemia |
|
Abnormal heart morphology, Radial artery aplasia, Ventricular septal defect, Coarctation of aorta... |
ORPHA:124 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:217085 |
Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect |
OMIM:616145 |
Restrictive Dermopathy |
|
Pulmonary hypoplasia, Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pa... |
ORPHA:1662 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Coarctation of aor... |
OMIM:274000 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:217093 |
Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal mitral valve morphology, Abn... |
ORPHA:3310 |
Schwartz-Jampel Syndrome |
|
Arrhythmia, Pulmonary arterial hypertension |
ORPHA:800 |
Specc1L-Related Hypertelorism Syndrome |
|
Arrhythmia |
ORPHA:1519 |
Holoprosencephaly |
|
Arrhythmia |
ORPHA:2162 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Cockayne Syndrome B |
|
Arrhythmia, Hypertension |
OMIM:133540 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Situs inversus totalis, Transposition of the great arteries, Atrial sept... |
OMIM:614976 |
Cockayne Syndrome A |
|
Arrhythmia, Hypertension |
OMIM:216400 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Mitral valve prolapse, Ventricular septal defect |
OMIM:617107 |
Esophageal Atresia |
|
Tetralogy of Fallot, Coarctation of aorta, Ventricular septal defect |
ORPHA:1199 |
Vater/Vacterl Association |
|
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... |
OMIM:192350 |
Mucopolysaccharidosis Type 2 |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:580 |
Hellp Syndrome |
|
Hypotension, Internal hemorrhage, Cerebral hemorrhage |
ORPHA:244242 |
Perlman Syndrome |
|
Interrupted aortic arch |
OMIM:267000 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular septal... |
ORPHA:3047 |
Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... |
ORPHA:444077 |
Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect |
ORPHA:1724 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal de... |
ORPHA:500095 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal left ventricle morphology, Patent foramen ovale, Ventricular septal defect, Left ventric... |
ORPHA:466791 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary... |
ORPHA:95494 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Right ventricula... |
OMIM:312870 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Arteriovenous malformation, Transient ische... |
ORPHA:2929 |
Alström Syndrome |
|
Recurrent pneumonia, Dilated cardiomyopathy, Recurrent upper respiratory tract infections, Conges... |
ORPHA:64 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:218040 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... |
OMIM:163950 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... |
ORPHA:438213 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Arrhythmia, Congestive heart failure |
OMIM:256040 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Renpenning Syndrome 1 |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect |
OMIM:309500 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect |
OMIM:616682 |
Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:117650 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect |
ORPHA:1393 |
Limb Body Wall Complex |
|
Abnormal heart morphology, Atrial septal defect, Ectopia cordis, Ventricular septal defect |
ORPHA:2369 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... |
ORPHA:363700 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar... |
ORPHA:261552 |
Ulnar-Mammary Syndrome |
|
Arrhythmia |
OMIM:181450 |
Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Pleural effusion, Pulmonary arteriovenous malformation, Pulmonary arter... |
OMIM:606721 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Pu... |
OMIM:134780 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:613884 |
Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Shock, Adrenal insufficiency, Hyperammonemia, Intracran... |
ORPHA:90062 |
Craniofacial Microsomia 1 |
|
Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Coarctation of aorta, Patent d... |
OMIM:164210 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect |
ORPHA:436252 |
Stickler Syndrome |
|
Arrhythmia |
ORPHA:828 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epistaxis, Arrhythmia, Raynaud phenomenon |
ORPHA:285 |
Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... |
ORPHA:2152 |
Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |