Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
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 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:302045 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... |
OMIM:604286 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... |
OMIM:619903 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... |
OMIM:300718 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... |
OMIM:108770 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... |
OMIM:300580 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... |
OMIM:609200 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... |
OMIM:616827 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy |
OMIM:602541 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... |
OMIM:255160 |
Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... |
ORPHA:63273 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:605676 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
Familial Dyskinesia And Facial Myokymia |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
ORPHA:324588 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... |
OMIM:301075 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... |
OMIM:252011 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline ... |
OMIM:161800 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Weakness of th... |
ORPHA:98912 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatomegaly, Br... |
OMIM:619048 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Difficulty walking, Distal lower limb muscle weakness, Leg muscle st... |
ORPHA:320360 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ... |
OMIM:615959 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Periarticular calcification, Pericardial effusion, Hepatic calcification... |
ORPHA:51608 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... |
ORPHA:437572 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia |
OMIM:310095 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Distal Myotilinopathy |
|
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal... |
ORPHA:98911 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath... |
ORPHA:272 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragg... |
ORPHA:1349 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, T-wave inversion, Vent... |
ORPHA:263297 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl... |
OMIM:615084 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
OMIM:606703 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy |
OMIM:255100 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Propionic Acidemia |
|
Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Arrhythmia |
ORPHA:35 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Noncompaction cardiomyop... |
OMIM:610198 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... |
OMIM:607598 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98855 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy |
OMIM:609308 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98853 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... |
OMIM:615418 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... |
OMIM:613507 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Rhabdomyolysis, Ankle flexion contracture |
OMIM:618120 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Abnor... |
OMIM:310200 |
Leber Hereditary Optic Neuropathy |
|
Ataxia, Retinal telangiectasia, Myopathy, Arrhythmia, Ventricular preexcitation |
ORPHA:104 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy |
ORPHA:85447 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... |
OMIM:619566 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy... |
ORPHA:3208 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth... |
ORPHA:352447 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis |
OMIM:607685 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Calf muscle hypertrophy, Achilles tendon contracture, Congenital muscular dystrophy, Macroglossia... |
OMIM:607155 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Abnormal cardiac se... |
ORPHA:1880 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatic necrosis, Dilated cardiomyopathy |
OMIM:231530 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... |
ORPHA:91131 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... |
OMIM:613156 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy |
OMIM:618805 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
Dystonia 23 |
|
Torticollis, Gait disturbance, Arrhythmia |
OMIM:614860 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,... |
OMIM:609452 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Loss of ... |
OMIM:616516 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
OMIM:145350 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... |
OMIM:615352 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Ventricular septal defect, Hypertension, Arrhythmia |
OMIM:617021 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Hypertension |
OMIM:616733 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... |
ORPHA:684 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Congestive heart f... |
ORPHA:367 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Facial palsy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree a... |
OMIM:617336 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Arrhythmia |
OMIM:618453 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Congestive heart failure, Ataxia, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:225 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Ischemic stroke, Dilated cardiomyopathy, Cerebral hemorrhage |
ORPHA:280679 |
Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor... |
ORPHA:732 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi... |
OMIM:615355 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ventricular tachycardia, Syncope, Dilated cardiomyopathy |
OMIM:615821 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Ataxia, Arrhythmia |
ORPHA:3222 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... |
OMIM:608358 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Percussion-induced rapid rolling muscle contracti... |
ORPHA:488650 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal left ventricle morphology, Dilated cardiomyopathy, Cerebral hemorrhage |
OMIM:300845 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Dilated cardiomyopathy, Congestive heart failure, EM... |
ORPHA:99901 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricular hypertrophy, C... |
ORPHA:90065 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia... |
OMIM:620067 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... |
ORPHA:169186 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611126 |
Refsum Disease, Classic |
|
Congestive heart failure, Ataxia, Arrhythmia, Cardiomegaly, Limb muscle weakness, Decreased phyta... |
OMIM:266500 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Myocardial infarction, Hepatomegaly, Distal amyotr... |
OMIM:205400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:99944 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
Barth Syndrome |
|
Endocardial fibroelastosis, Skeletal myopathy, Dilated cardiomyopathy, Increased left ventricular... |
OMIM:302060 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r... |
OMIM:619433 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Right ventr... |
OMIM:265400 |
Amoebiasis Due To Free-Living Amoebae |
|
Arrhythmia, Myocardial necrosis, Facial palsy |
ORPHA:68 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hepatic failure, Elevated hepatic transaminase, Hypertrophic cardiomyopathy... |
ORPHA:156 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy |
ORPHA:91130 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... |
ORPHA:308552 |
Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy |
OMIM:300842 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... |
OMIM:600996 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Polyvalvular Heart Disease Syndrome |
|
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... |
ORPHA:228410 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Gait disturbance, Congestive heart failure, Myopathy, Skeletal muscle atroph... |
ORPHA:157973 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy |
OMIM:618236 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodi... |
ORPHA:171433 |
Fabry Disease |
|
Transient ischemic attack, Left ventricular hypertrophy, Angina pectoris, Ventricular septal hype... |
OMIM:301500 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... |
ORPHA:99104 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Myopathy, Hepatomegaly, Cardiomyopathy |
OMIM:610717 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs |
OMIM:255700 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Left ventricular hypertrophy |
ORPHA:228346 |
Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Gait disturbance, Ataxia, Hypertrophic cardiomyopathy, Dysmetria, Skeletal mu... |
ORPHA:96 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Arrhythmia |
ORPHA:1314 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left ventricular h... |
ORPHA:746 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Cardiomyopathy |
OMIM:613752 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Ventricular hypertrophy, Rhabdom... |
ORPHA:228305 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Congestive heart failure, Hepatomegaly, Cardiomyopathy |
OMIM:613313 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage |
ORPHA:335 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Ataxia, Situs inversus totalis, Arrhythmia, Card... |
OMIM:249270 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... |
OMIM:616028 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Myopathy, Hepatomegaly, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, Myopathy, Arrhythmia |
OMIM:609015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... |
OMIM:613155 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Duchenne Muscular Dystrophy |
|
Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy, Calf muscle hypertrophy |
ORPHA:98896 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Gm1-Gangliosidosis, Type I |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart valve morphology, Dilated c... |
OMIM:230500 |
Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:99725 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy |
ORPHA:70595 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:98863 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven... |
OMIM:300952 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Pro... |
ORPHA:71212 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy |
OMIM:619003 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Lower limb hype... |
ORPHA:1177 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... |
OMIM:619051 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cardiomegaly, Elevated hepatic transaminase, Ataxia, Myopathy, Skeletal mu... |
ORPHA:42 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ... |
OMIM:618234 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618228 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... |
OMIM:212138 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... |
ORPHA:555877 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Ventricular septal defect,... |
OMIM:614921 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... |
ORPHA:2326 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
X-Linked Intellectual Disability, Hedera Type |
|
Hypomimic face, Left ventricular hypertrophy |
ORPHA:93952 |
Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Congestive heart failure, EMG: myopathic abnormalities, Myositis, Muscle fibe... |
ORPHA:206569 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Reduced circulating aldolase concentration, Decreased muscle mass, Skeletal myopathy, Muscle fibe... |
ORPHA:57 |
Paramyotonia Congenita Of Von Eulenburg |
|
Paradoxical myotonia, Handgrip myotonia, Percussion myotonia |
OMIM:168300 |
Nephronophthisis 16 |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulm... |
OMIM:615382 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Bradycardia, Arrhythmia... |
OMIM:609286 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio... |
OMIM:300280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... |
OMIM:253800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr... |
OMIM:261740 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... |
OMIM:612954 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Ele... |
ORPHA:330001 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... |
ORPHA:37553 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Rheumatic Fever |
|
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... |
ORPHA:3099 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defec... |
ORPHA:230851 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ... |
ORPHA:268 |
Dilated Cardiomyopathy With Ataxia |
|
Diaphragmatic eventration, Generalized amyotrophy, Dilated cardiomyopathy, Prolonged QT interval,... |
ORPHA:66634 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ... |
ORPHA:565612 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... |
OMIM:618652 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... |
OMIM:235200 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:93476 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Hec Syndrome |
|
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia |
ORPHA:2119 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Paroxysmal atrial fibrillation, Autophagic vacuol... |
OMIM:164310 |
Hemochromatosis, Type 4 |
|
Arrhythmia, Hepatomegaly, Cardiomyopathy |
OMIM:606069 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Shuffling gait, Akinesia, Inability to walk, Short stepped shuffling gait, Hypomimic... |
ORPHA:391411 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Cardiomyopathy |
ORPHA:26792 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... |
OMIM:619698 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
Mulibrey Nanism |
|
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly |
OMIM:253250 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... |
ORPHA:1194 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy |
OMIM:618237 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ... |
OMIM:616564 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|