| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Cardiomyopathy, Dilated, 1M |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... |
OMIM:607482 |
| Wolff-Parkinson-White Syndrome |
|
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... |
OMIM:194200 |
| Cardiomyopathy, Dilated, 1R |
|
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... |
OMIM:611880 |
| Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
| Cardiomyopathy, Dilated, 2I |
|
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... |
OMIM:620462 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1L |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... |
OMIM:606685 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1Dd |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... |
OMIM:613172 |
| Cardiomyopathy, Dilated, 1Ee |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function |
OMIM:609909 |
| Cardiomyopathy, Dilated, 1J |
|
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... |
OMIM:605362 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1I |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:217622 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Left Ventricular Noncompaction 8 |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... |
OMIM:613642 |
| Left Ventricular Noncompaction 10 |
|
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... |
OMIM:615396 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... |
ORPHA:168796 |
| Cardiomyopathy, Dilated, 1U |
|
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... |
OMIM:613694 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Dilated, 1Kk |
|
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... |
OMIM:615248 |
| Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus... |
OMIM:611615 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... |
OMIM:610476 |
| Cardiomyopathy, Dilated, 2G |
|
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... |
OMIM:619897 |
| Cardiomyopathy, Dilated, 1Bb |
|
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... |
OMIM:612877 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... |
OMIM:604772 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Cardiomyopathy, Dilated, 1V |
|
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... |
OMIM:613697 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... |
OMIM:181350 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... |
OMIM:612124 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca... |
OMIM:608099 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... |
OMIM:611777 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... |
OMIM:613251 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... |
OMIM:604286 |
| Cardiomyopathy, Dilated, 1G |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... |
OMIM:604145 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... |
OMIM:617912 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... |
ORPHA:45453 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... |
OMIM:614954 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... |
OMIM:613838 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... |
OMIM:601154 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... |
OMIM:611705 |
| Cardiomyopathy, Dilated, 2F |
|
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... |
OMIM:619747 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... |
OMIM:620247 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... |
ORPHA:206546 |
| Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... |
OMIM:615184 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... |
OMIM:604169 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Cardiomyopathy, Dilated, 2J |
|
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... |
OMIM:620635 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... |
OMIM:601419 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... |
OMIM:608758 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle... |
OMIM:619903 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Atrial Standstill |
|
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... |
ORPHA:1344 |
| Atrial Fibrillation, Familial, 15 |
|
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... |
OMIM:615770 |
| Myopathy, Distal, 1 |
|
Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an... |
OMIM:160500 |
| Familial Isolated Dilated Cardiomyopathy |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
ORPHA:154 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... |
OMIM:613255 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... |
OMIM:611528 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... |
OMIM:108770 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:616198 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a... |
ORPHA:34515 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... |
OMIM:618920 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr... |
ORPHA:63273 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... |
OMIM:612098 |
| Progressive Familial Heart Block, Type Ia |
|
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... |
OMIM:113900 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Cardiomyopathy, Dilated, 2D |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... |
OMIM:619371 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... |
ORPHA:206559 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Dilated car... |
OMIM:300718 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... |
OMIM:614676 |
| Cardiomyopathy, Dilated, 1Nn |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... |
OMIM:615916 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ... |
OMIM:616827 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca... |
OMIM:619402 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... |
OMIM:613873 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... |
OMIM:115210 |
| Dpm3-Cdg |
|
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy, Pelvic gird... |
ORPHA:263494 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... |
ORPHA:300751 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... |
OMIM:255160 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... |
OMIM:613690 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... |
ORPHA:263297 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... |
OMIM:608751 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... |
OMIM:611556 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil... |
OMIM:300580 |
| Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... |
OMIM:115200 |
| Brugada Syndrome 9 |
|
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations |
OMIM:616399 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy |
OMIM:255100 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... |
OMIM:620236 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... |
OMIM:611878 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... |
ORPHA:2041 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy |
OMIM:615981 |
| Adult-Onset Nemaline Myopathy |
|
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... |
ORPHA:171442 |
| Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... |
OMIM:613426 |
| Danon Disease |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... |
OMIM:300257 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... |
OMIM:613688 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R... |
OMIM:619424 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Myopathy, Distal, 4 |
|
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di... |
OMIM:614065 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Cardiomyopathy, Distal lower limb muscle weakness, Leg muscle stiffness |
ORPHA:320360 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef... |
OMIM:613876 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... |
ORPHA:99105 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... |
OMIM:613980 |
| Gne Myopathy |
|
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi... |
ORPHA:602 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618815 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... |
ORPHA:98912 |
| Glycogen Storage Disease Xv |
|
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... |
OMIM:613507 |
| Long Qt Syndrome 14 |
|
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... |
OMIM:616247 |
| Peripartum Cardiomyopathy |
|
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... |
ORPHA:563 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy |
OMIM:609500 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:602390 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card... |
OMIM:301075 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... |
OMIM:615616 |
| Laing Early-Onset Distal Myopathy |
|
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... |
ORPHA:59135 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes |
OMIM:220400 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... |
OMIM:600334 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... |
OMIM:613693 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... |
OMIM:115000 |
| Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula... |
OMIM:613874 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Muscle Filaminopathy |
|
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... |
ORPHA:171445 |
| Brugada Syndrome 6 |
|
ST segment elevation, Cardiac arrest, Ventricular fibrillation |
OMIM:613119 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... |
OMIM:607554 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... |
OMIM:616201 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
| Brugada Syndrome 7 |
|
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Brugada Syndrome 3 |
|
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... |
OMIM:611875 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... |
ORPHA:860 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis... |
OMIM:161800 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... |
OMIM:252011 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... |
OMIM:614980 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes... |
ORPHA:399103 |
| 3-Methylglutaconic Aciduria, Type V |
|
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic even... |
OMIM:610198 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Reduced left ventricular ejection fraction, Elevated left ventricular en... |
OMIM:612201 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... |
OMIM:617222 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... |
OMIM:612999 |
| Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... |
OMIM:614022 |
| Naxos Disease |
|
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... |
ORPHA:34217 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila... |
OMIM:615959 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di... |
ORPHA:1349 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... |
OMIM:609200 |
| Muscular Dystrophy, Duchenne Type |
|
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... |
OMIM:310200 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... |
OMIM:615084 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... |
OMIM:192500 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes |
OMIM:612955 |
| Dk1-Cdg |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... |
ORPHA:91131 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ... |
ORPHA:98911 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98855 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m... |
OMIM:255310 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle... |
OMIM:608807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist... |
OMIM:619566 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... |
ORPHA:216694 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:276556 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... |
ORPHA:3286 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ... |
OMIM:613870 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:261 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... |
ORPHA:75566 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98853 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak... |
ORPHA:90064 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,... |
OMIM:602541 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... |
OMIM:618052 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... |
OMIM:300696 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil... |
ORPHA:352447 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... |
ORPHA:1329 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... |
ORPHA:1345 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Limb muscle weakness, Cardiomyopathy, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con... |
ORPHA:272 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:615821 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:276575 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... |
OMIM:620519 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... |
OMIM:614916 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa... |
OMIM:609308 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... |
OMIM:115195 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:276580 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... |
OMIM:609620 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat... |
ORPHA:399058 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit... |
OMIM:212112 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Dila... |
OMIM:607155 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis |
OMIM:618120 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... |
OMIM:612347 |
| Polymyositis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... |
ORPHA:732 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy |
ORPHA:79230 |
| Long-Olsen-Distelmaier Syndrome |
|
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... |
OMIM:620609 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Left ventri... |
OMIM:619167 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Cardiac Diverticulum |
|
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... |
ORPHA:1686 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... |
OMIM:617047 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death |
OMIM:620231 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... |
OMIM:601005 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... |
OMIM:620152 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Ventricular fibrillation, Tachycardia |
OMIM:603829 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hypoplastic left heart |
OMIM:616276 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Congenital Myopathy 24 |
|
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... |
OMIM:617336 |
| Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... |
OMIM:612422 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ... |
ORPHA:368 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... |
OMIM:615441 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Optic Atrophy 16 |
|
Paroxysmal tachycardia |
OMIM:620629 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
| Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... |
OMIM:115197 |
| Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
| Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... |
ORPHA:85451 |
| Ebstein Anomaly |
|
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... |
OMIM:224700 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Ventricular septal defect, Cardiomyopathy |
ORPHA:1909 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... |
ORPHA:45452 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w... |
OMIM:615352 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... |
ORPHA:99103 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib... |
OMIM:609452 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... |
ORPHA:49827 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Neonatal Lupus Erythematosus |
|
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... |
ORPHA:398124 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage |
ORPHA:280679 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... |
ORPHA:26793 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... |
ORPHA:137675 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... |
OMIM:314400 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation |
ORPHA:401923 |
| Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... |
ORPHA:228410 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse |
ORPHA:2868 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... |
ORPHA:206549 |
| Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Endocardial fibrosis, Restrictive cardiomyopathy |
OMIM:607685 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:231530 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure |
OMIM:605676 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... |
OMIM:608358 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... |
ORPHA:37553 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... |
ORPHA:57777 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:611126 |
| Leber Hereditary Optic Neuropathy |
|
Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia |
ORPHA:104 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Barth Syndrome |
|
Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Skeletal myopathy... |
OMIM:302060 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c... |
OMIM:620300 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... |
ORPHA:422 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... |
OMIM:540000 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Congestive heart failure, Portal hypertension, Skeletal muscle atrophy, Abnormal cardiomyocyte mo... |
ORPHA:367 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... |
OMIM:614096 |
| Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
| Mcleod Syndrome |
|
Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy |
OMIM:300842 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... |
OMIM:620066 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... |
ORPHA:86812 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... |
OMIM:300952 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi... |
ORPHA:99901 |
| Double Outlet Right Ventricle |
|
Tachycardia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Double out... |
ORPHA:3426 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage, Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:335 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova... |
OMIM:619343 |
| Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:254913 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb mu... |
OMIM:613205 |
| Atrial Standstill 2 |
|
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... |
OMIM:615745 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachnoid hemorrhage,... |
OMIM:232300 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy |
OMIM:608068 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy |
OMIM:619048 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy |
OMIM:609015 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Left atrial enlargement, Atrial fibrillation, Supraventricular arrhythmia, Hypertrophic cardiomyo... |
ORPHA:75249 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618234 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hypertrophic car... |
ORPHA:308552 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
| Classic Multiminicore Myopathy |
|
Congestive heart failure, Muscular dystrophy, Weakness of facial musculature, Generalized amyotro... |
ORPHA:324604 |
| Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction |
OMIM:208000 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... |
ORPHA:60041 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Arrhythmia |
ORPHA:3222 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... |
ORPHA:1880 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Cardiomyopathy |
OMIM:613752 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... |
ORPHA:980 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology |
ORPHA:485405 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:614299 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Muscle fiber necrosis, Rhabdomyolysis, Cardiogenic shock, Epistax... |
ORPHA:449285 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation |
OMIM:619433 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr... |
ORPHA:79102 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M... |
OMIM:613155 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Gm1-Gangliosidosis, Type I |
|
Abnormal heart valve morphology, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic c... |
OMIM:230500 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P... |
ORPHA:75565 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Abnormal left ventricle morphology |
OMIM:300845 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyocyte mitochondrial proliferation, ... |
ORPHA:423 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out... |
ORPHA:2326 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... |
ORPHA:542306 |
| Cap Myopathy |
|
Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari... |
ORPHA:171881 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... |
ORPHA:3092 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Rhabdomyolysis, Cardi... |
OMIM:614921 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Joint contracture, Cardiomyopathy, Flexion contracture |
OMIM:608540 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome |
OMIM:614947 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g... |
ORPHA:119 |
| Glycogen Storage Disease Iii |
|
Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy |
OMIM:232400 |
| Collagenoma, Familial Cutaneous |
|
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... |
OMIM:115250 |
| Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... |
OMIM:616501 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Rhabdomyolysis |
OMIM:188580 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect |
OMIM:249270 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618235 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ... |
ORPHA:66634 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Palpitations, Tachycardia |
ORPHA:324575 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Tachycardia |
ORPHA:464453 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Scapular winging, Nemaline bodi... |
ORPHA:171439 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy |
ORPHA:70595 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia |
ORPHA:159 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98863 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
| Criss-Cross Heart |
|
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... |
ORPHA:1461 |
| Hec Syndrome |
|
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
| Isolated Right Ventricular Hypoplasia |
|
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... |
ORPHA:439 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:618321 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Muscular dystrophy, Transposition of the great arteries, Calf muscle hypertrophy, Pulmonic stenos... |
OMIM:253800 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia |
ORPHA:230839 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Mitral valve prolapse |
OMIM:616166 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Mitral valve prolapse, Knee flexion contracture, Mitral... |
OMIM:606631 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial p... |
OMIM:164310 |
| Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:102200 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Premature ventricular contraction, Sternocleidomastoid amyotrophy, Gen... |
OMIM:602668 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... |
ORPHA:324410 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... |
ORPHA:444013 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... |
OMIM:109730 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Left ventric... |
OMIM:615418 |
| Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Cardiomyopathy |
ORPHA:93476 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Atrial septal defect, Ventri... |
OMIM:612561 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Acute rhabdomyolysis, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventri... |
OMIM:616878 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... |
OMIM:619705 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Lower limb muscle weakness |
OMIM:619737 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
| Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... |
ORPHA:99106 |
| Pseudoxanthoma Elasticum |
|
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopath... |
OMIM:264800 |
| Pericardial And Diaphragmatic Defect |
|
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea... |
ORPHA:2847 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy |
OMIM:614654 |
| Central Core Disease |
|
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... |
ORPHA:597 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... |
OMIM:614302 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... |
OMIM:607459 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl... |
ORPHA:254892 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171420 |
| Heart Block, Congenital |
|
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... |
OMIM:234700 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, Hypertrophic c... |
ORPHA:365 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse |
OMIM:225320 |
| Eisenmenger Syndrome |
|
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... |
ORPHA:97214 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Mitral valve prolapse, Small hypothenar eminence, Small thenar eminence, Joint con... |
OMIM:211960 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... |
OMIM:614653 |
| Nephronophthisis 16 |
|
Pulmonic stenosis, Situs inversus totalis, Aortic valve stenosis, Hypertrophic cardiomyopathy |
OMIM:615382 |
| Refsum Disease, Classic |
|
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly |
OMIM:266500 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Mitral valve prolapse |
OMIM:173900 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Dysplastic aortic valve, Tricuspid r... |
OMIM:620067 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Cardiomyopathy, Hematochezia, Skeletal muscle atrophy, Dilated cardiomy... |
OMIM:615895 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... |
OMIM:614473 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia... |
OMIM:617072 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... |
OMIM:609286 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... |
ORPHA:3342 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy |
ORPHA:71212 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes |
ORPHA:90647 |
| Stiff-Person Syndrome |
|
Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Hypertension, Axial muscle stif... |
OMIM:184850 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... |
ORPHA:3093 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... |
OMIM:616866 |
| Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ... |
OMIM:620294 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation |
ORPHA:261250 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... |
OMIM:618280 |
| Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Reduced muscle carnitine level, Cardiomyopathy, Hypertrophic cardiomyop... |
OMIM:212140 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... |
OMIM:615344 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:156 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Hypertrophic car... |
ORPHA:505248 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... |
ORPHA:99104 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... |
ORPHA:439232 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Arrhythm... |
OMIM:608836 |
| Polyarteritis Nodosa |
|
Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon |
ORPHA:767 |
| Melas |
|
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,... |
ORPHA:550 |
| Hereditary Coproporphyria |
|
Tachycardia, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs |
ORPHA:79273 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies |
OMIM:616549 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... |
ORPHA:555877 |
| Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
| Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
| Glycogen Storage Disease Iv |
|
Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A... |
OMIM:232500 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp... |
ORPHA:3384 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,... |
ORPHA:542323 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Myopathy |
ORPHA:228305 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Elbow flexion contracture, Increased v... |
OMIM:619461 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
ORPHA:73224 |
| Hemochromatosis, Type 1 |
|
Congestive heart failure, Cardiomyopathy, Arrhythmia, Cardiomegaly, Telangiectasia |
OMIM:235200 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy |
OMIM:251110 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber necrosis, Fa... |
OMIM:258450 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Aortic regurgitation, Mitral valve prolapse |
OMIM:609008 |
| Cardiac Valvular Dysplasia 1 |
|
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... |
OMIM:212093 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscular dystrophy, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skeletal muscle hype... |
OMIM:613327 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Patent foramen ovale, Camptodactyly, Mitral valve prolapse, Mitral regurgitation |
OMIM:615539 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy |
OMIM:613989 |
| American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Achalasia |
ORPHA:3386 |
| Infantile Refsum Disease |
|
Facial palsy, Cardiomyopathy, Arrhythmia |
ORPHA:772 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
| Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Arrhythmia, High-output congestive heart f... |
ORPHA:231226 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Coronary a... |
ORPHA:565612 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Aortic valve stenosis, Joint hemorrhage, Epistaxis, Mitral valve pro... |
OMIM:193400 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Interatrial Communication |
|
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... |
ORPHA:1478 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability |
OMIM:105120 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... |
ORPHA:1677 |
| Scorpion Envenomation |
|
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... |
ORPHA:466677 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent foramen ovale, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy |
OMIM:610505 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy |
ORPHA:1215 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... |
OMIM:618775 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardio... |
ORPHA:758 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Capillary leak, Myositis, Hypotension, Tachycardia, Shock |
ORPHA:36234 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... |
OMIM:178600 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic ca... |
ORPHA:255210 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... |
ORPHA:555874 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
| Vici Syndrome |
|
Congestive heart failure, Cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Dil... |
OMIM:242840 |
| Scimitar Syndrome |
|
Congestive heart failure, Abnormal hemidiaphragm morphology, Tricuspid atresia, Partial anomalous... |
ORPHA:185 |
| Sweet Syndrome |
|
Small vessel vasculitis, Dilated cardiomyopathy, Myositis |
ORPHA:3243 |
| Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Arrhythmia, High-output congestive heart f... |
ORPHA:231214 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Supraventricular tachycardia with an accessory connec... |
ORPHA:404443 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy |
OMIM:617713 |
| Mercury Poisoning |
|
Tachycardia, Hypertension, Hypotension |
ORPHA:330021 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia |
OMIM:614435 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of toe, Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurg... |
ORPHA:2848 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
| Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171300 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Right atrial enlarg... |
OMIM:619313 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy |
OMIM:616541 |
| Ciliary Dyskinesia, Primary, 52 |
|
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... |
OMIM:620570 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Aplasia/Hy... |
ORPHA:500 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block |
OMIM:530000 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... |
ORPHA:90068 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyoly... |
ORPHA:746 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Dilated cardiomyopathy, Skeletal muscle atrophy |
ORPHA:89842 |
| Contractural Arachnodactyly, Congenital |
|
Elbow flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Cam... |
OMIM:121050 |
| Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension |
ORPHA:43116 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Dilat... |
ORPHA:363623 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Dysplastic pulmonary valve, Right ventricular dilatation, Tricuspid... |
OMIM:612863 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tendon thickening... |
ORPHA:230851 |
| Idiopathic Hypereosinophilic Syndrome |
|
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran... |
ORPHA:3260 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hematemesis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... |
ORPHA:99827 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve prolapse, Left vent... |
OMIM:616564 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... |
ORPHA:99094 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrial septal defect, Atrioventricular canal defect, Hypertension, Pulmonary arterial hypertensio... |
OMIM:619573 |
| Developmental And Epileptic Encephalopathy 111 |
|
Sinus tachycardia, Hypertension, Premature ventricular contraction, Biventricular hypertrophy, Hy... |
OMIM:620504 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid... |
ORPHA:2556 |
| Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:309155 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage, Mitral val... |
OMIM:177850 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Abnormal heart morphology, Dilated cardiomyopathy, Pulmonary emb... |
ORPHA:79282 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature |
OMIM:201470 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
| Ethylene Glycol Poisoning |
|
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Facial palsy,... |
ORPHA:31826 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal... |
ORPHA:371428 |
| Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
| Porphyria Variegata |
|
Tachycardia, Proximal muscle weakness in upper limbs, Hypertension |
ORPHA:79473 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmonic stenosis, Mitral valve prolapse,... |
ORPHA:3071 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Arrhythmia, Tachycardia |
ORPHA:139411 |
| Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Mitral stenosis, Mitr... |
OMIM:614185 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness |
OMIM:619259 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Vasculitis, Hypertension, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy |
OMIM:615688 |
| Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... |
ORPHA:158687 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy |
OMIM:618839 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Congestive heart failure, Skeletal muscle hypertrophy, Supr... |
ORPHA:280365 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Angina pectoris, Vasculitis, Myositis, Cardiomyopathy, P... |
ORPHA:93672 |
| Alstrom Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:203800 |
| Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
| Graft Versus Host Disease |
|
Tachycardia, Dupuytren contracture, Myositis, Skeletal muscle atrophy |
ORPHA:39812 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atria... |
OMIM:309801 |
| Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
| Neuroleptic Malignant Syndrome |
|
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Rhabdomyolysis, Arrhythmia, Tachycar... |
ORPHA:94093 |
| Steinert Myotonic Dystrophy |
|
Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Weakness of facial musc... |
ORPHA:273 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Orthostatic hypotension |
OMIM:223900 |
| Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Cholera |
|
Tachycardia, Hypovolemic shock, Hypotension |
ORPHA:173 |
| Renal Nutcracker Syndrome |
|
Syncope, Orthostatic hypotension, Tachycardia |
ORPHA:71273 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S... |
ORPHA:340 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr... |
OMIM:142900 |
| Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... |
OMIM:609942 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Muscle fiber splitting, Proximal amyotrophy, Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Cardiomegaly, Torticollis, Pat... |
OMIM:300855 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse |
ORPHA:98 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Hypotension, Bradycardia |
ORPHA:391673 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia |
OMIM:277400 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myocardial infarction, Mitral valve prolapse |
OMIM:236200 |
| Marburg Hemorrhagic Fever |
|
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... |
ORPHA:99826 |
| Familial Dysautonomia |
|
Tachycardia, Hypertension, Orthostatic hypotension |
ORPHA:1764 |
| Neutral Lipid Storage Myopathy |
|
Congestive heart failure, Generalized limb muscle atrophy, Rimmed vacuoles, Cardiomyopathy, Hand ... |
ORPHA:98908 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Hypotension, Tachycardia |
ORPHA:98849 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral va... |
OMIM:619745 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... |
OMIM:616749 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Acute Intermittent Porphyria |
|
Tachycardia, Proximal muscle weakness in upper limbs, Hypertension, Proximal muscle weakness in l... |
ORPHA:79276 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Mitral stenosis, Mitral valve calcification, Aortic valve calcification |
OMIM:231005 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Pulmonary arterial hypertension, Tricuspid regurgitation, Mitral valve prolapse, Right atrial enl... |
OMIM:620233 |
| Gitelman Syndrome |
|
Prolonged QT interval, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Palpitations |
OMIM:263800 |
| Acquired Generalized Lipodystrophy |
|
Abnormal cardiovascular system physiology, Calf muscle pseudohypertrophy, Hypertension, Cardiomyo... |
ORPHA:79086 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion contracture, Pulmo... |
OMIM:602782 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Muscle hypertrophy of the lower extremities, Prolonged QT interval, Tachyc... |
ORPHA:1772 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mitral valve prolapse |
ORPHA:137834 |
| Marfan Syndrome |
|
Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Aortic re... |
ORPHA:558 |
| Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval |
ORPHA:36913 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Fragile X Syndrome |
|
Mitral valve prolapse |
ORPHA:908 |
| Noonan Syndrome 13 |
|
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse |
OMIM:619087 |
| Legius Syndrome |
|
Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve prolapse |
ORPHA:137605 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Mitral valve prolapse, Mitral regurgitation, Telangiectasia |
OMIM:175050 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
| 1P36 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Abnormal heart valve morphology, Camptodactyly of finger, Tet... |
ORPHA:1606 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Thickened Achilles tendon, Abnormal heart morphology, Dilatation of the ven... |
ORPHA:85438 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Mitral valve prolapse |
ORPHA:449291 |
| Congenital Contractural Arachnodactyly |
|
Congenital contracture, Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Arth... |
ORPHA:115 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Ventricular bigeminy, Left bundle branch block, Facial palsy, Limb muscle weakness, Arrhythmia |
OMIM:610131 |
| Noonan Syndrome 2 |
|
Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Hypertrophic cardiomyopathy,... |
OMIM:605275 |
| Leopard Syndrome 1 |
|
Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Bundle b... |
OMIM:151100 |
| Degcags Syndrome |
|
Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, Pulmonic steno... |
OMIM:619488 |
| Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... |
ORPHA:284979 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ... |
OMIM:607872 |
| Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle we... |
ORPHA:1900 |
| Plague |
|
Hematemesis, Hypotension, Arrhythmia, Tachycardia, Endocarditis |
ORPHA:707 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Mitral valve prolapse |
OMIM:247410 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Congenital finger flexion contractures, Achilles tendon contracture, H... |
OMIM:620545 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Mitral valve prolapse |
OMIM:129600 |
| Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy, Flexion contracture, Foot joint contracture |
ORPHA:79408 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Distal lower limb muscle weakness, Hypertension, Cardiomyopathy, Upper limb muscle w... |
ORPHA:892 |
| Cerebellar-Facial-Dental Syndrome |
|
Limb hypertonia, Foot joint contracture, Mitral valve prolapse, Ventricular septal defect, Abnorm... |
ORPHA:444072 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Cardiac myxoma, Hypertension, Supraventricular tachycardia |
OMIM:181270 |
| Oculofaciocardiodental Syndrome |
|
Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Mitral valve prolapse, Ab... |
ORPHA:2712 |
| Choreoacanthocytosis |
|
Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy |
ORPHA:2388 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Scapular winging, Mitral valve prolapse |
OMIM:616914 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Camptodactyly, Mitral valve prolapse, Bicuspid aortic valve, ... |
OMIM:611962 |
| Brittle Cornea Syndrome |
|
Pulmonic stenosis, Camptodactyly, Mitral valve prolapse |
ORPHA:90354 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
| Cohen Syndrome |
|
Mitral valve prolapse, Facial hypotonia |
OMIM:216550 |
| Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Atrial septal defect, Progressive flexion contractures, Mitral v... |
ORPHA:93932 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Mitral valve prolapse |
ORPHA:730 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Ventricular arrhythmia |
OMIM:620475 |
| Gitelman Syndrome |
|
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven... |
ORPHA:358 |
| Shprintzen-Goldberg Syndrome |
|
Abnormal aortic valve morphology, Camptodactyly of finger, Mitral valve prolapse, Aplasia/Hypopla... |
ORPHA:2462 |
| Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Hypoplasia of the musculature, Elbow flexion contracture, Scapular win... |
OMIM:305620 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse |
OMIM:130000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr... |
OMIM:245600 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Mitral valve prolapse, Macroglossia |
ORPHA:369950 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... |
ORPHA:391665 |
| Tsh-Secreting Pituitary Adenoma |
|
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... |
ORPHA:91347 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Tricuspid regurgitation, C... |
OMIM:617402 |
| Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
| Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Atrial septal defect, Portal hypertension, Dilated cardiomyopathy, Ventri... |
OMIM:243800 |
| Marfan Syndrome |
|
Congestive heart failure, Tricuspid valve prolapse, Aortic regurgitation, Mitral annular calcific... |
OMIM:154700 |
| Costello Syndrome |
|
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Pulmonic stenosis, Achilles tendon contracture, Mi... |
OMIM:218040 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Mitral valve prolapse |
OMIM:618000 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ... |
ORPHA:363700 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Tricuspid valve prolapse, Aortic regurgitation, Diastasis recti, Tricuspid regurgitation, Distal ... |
OMIM:601776 |
| 8P11.2 Deletion Syndrome |
|
Atrial septal defect, Mitral valve prolapse |
ORPHA:251066 |
| Marshall-Smith Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Premature ventricular contraction, Dysplastic aort... |
OMIM:602535 |
| Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse |
OMIM:166200 |
| Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral valve prolapse, Double... |
OMIM:249420 |
| Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Torticollis, Mitral valve prolapse |
OMIM:614816 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse |
OMIM:104350 |
| Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
| Spondyloocular Syndrome |
|
Atrial septal defect, Dysplastic aortic valve, Mitral valve prolapse |
OMIM:605822 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Wrist flexion contracture, Camptodactyly of toe, Interphalangeal joint... |
OMIM:259600 |
| Helsmoortel-Van Der Aa Syndrome |
|
Facial palsy, Abnormal heart morphology, Mitral valve prolapse, Heart murmur, Atrial septal defec... |
OMIM:615873 |
| Sarcoidosis |
|
Heart block, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Arrhythmia... |
ORPHA:797 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Contracture of the proximal interphalangeal joint of the 2nd toe, Pulmonic stenosis... |
OMIM:300166 |
| Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, Aortic regurgitation, Torticollis, Facial hypotonia, Mitral valve prola... |
OMIM:618371 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Camptodactyly, Mitral valve prolapse, Joint contracture of the hand |
OMIM:182212 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Macroglossia |
OMIM:617107 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Camptodactyly, Mitral valve prolapse, Ventricular septal def... |
ORPHA:500095 |
| Atypical Werner Syndrome |
|
Congestive heart failure, Calf muscle hypertrophy, Hypertension, Aortic valve stenosis, Telangiec... |
ORPHA:79474 |
| Neurooculorenal Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Distal lower limb muscle weakness, Elbow flexion contracture, Mitral valve prolapse |
ORPHA:508533 |
| Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular hypertrophy, Camptodactyly, Pulmonic steno... |
OMIM:613795 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse |
ORPHA:536532 |
| Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Orthostatic hypotension, Abnormal heart valve physiology, Mitral valve ... |
ORPHA:287 |
| Williams Syndrome |
|
Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid... |
ORPHA:904 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Torticollis, Mitral valve prolapse |
ORPHA:536467 |
| Alström Syndrome |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Portal hypertension, Myo... |
ORPHA:64 |
| Stickler Syndrome |
|
Macroglossia, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia |
ORPHA:828 |
| Williams-Beuren Syndrome |
|
Myxomatous mitral valve degeneration, Hypertension, Portal hypertension, Coronary artery stenosis... |
OMIM:194050 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture, Epistaxis, Raynaud phenomen... |
ORPHA:285 |
| Meester-Loeys Syndrome |
|
Joint contracture, Camptodactyly, Mitral valve prolapse |
OMIM:300989 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Flexion contracture, Cerebral hemorrhage, ... |
ORPHA:666 |
| Viss Syndrome |
|
Atrial septal defect, Epidural hemorrhage, Patent foramen ovale, Contracture of the proximal inte... |
OMIM:619472 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Hemothorax, Mitral valve prolapse, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrha... |
OMIM:130050 |
| Loeys-Dietz Syndrome 1 |
|
Hypoplasia of the musculature, Bicuspid pulmonary valve, Camptodactyly, Mitral valve prolapse, Bi... |
OMIM:609192 |
| Rubinstein-Taybi Syndrome 1 |
|
Perimembranous ventricular septal defect, Patent foramen ovale, Flexion contracture, Mitral valve... |
OMIM:180849 |
| Loeys-Dietz Syndrome 2 |
|
Patent foramen ovale, Bicuspid pulmonary valve, Camptodactyly, Mitral valve prolapse, Bicuspid ao... |
OMIM:610168 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypertension, Transient ischemic attack, Internal hemorrhage, Re... |
ORPHA:286 |
