| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Glycogen Storage Disease 0, Muscle |
|
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... |
OMIM:611556 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... |
OMIM:614022 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, S... |
ORPHA:85451 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... |
OMIM:619048 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Patent ductus art... |
OMIM:618782 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Stroke, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentri... |
OMIM:619402 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... |
OMIM:616249 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Stroke, Atrial standstill, Palpitations, Absent P wave, Vascular dilatation, A... |
OMIM:615745 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... |
OMIM:613255 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Bradycardia, Atrial fibrillation, Proximal amyotrophy |
OMIM:614302 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... |
ORPHA:3093 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria, Cardiomyopathy |
OMIM:613657 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... |
ORPHA:63273 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... |
OMIM:608099 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Bicuspid aortic v... |
OMIM:132900 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Abnormal heart morphology |
OMIM:618250 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Dicarboxylic aciduria, Rhabdomyolys... |
OMIM:212138 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
OMIM:618815 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy |
ORPHA:320360 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Stroke-like ... |
ORPHA:563 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, My... |
OMIM:617713 |
| Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... |
OMIM:619040 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... |
OMIM:609200 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic d... |
ORPHA:57777 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Increased mitochondrial number, Shoulder girdle muscle weakness, EMG: myop... |
ORPHA:263297 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Organic aciduria, Fatty replacement of skeletal muscle, Cardiomyopa... |
OMIM:255100 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Myopath... |
OMIM:261740 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
| Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmi... |
ORPHA:330001 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Arrhythmia, Lower limb muscle weakness, Myofibrill... |
OMIM:300695 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Azoospermia, Cardiomyo... |
OMIM:602390 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Renal insufficiency, Abnormal aortic morphology, Hypertension, Cardiomyopathy |
ORPHA:3222 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... |
OMIM:205400 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Pulmonary arterial hypertension, Elevated hepatic transaminase, Bradyca... |
OMIM:616299 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... |
OMIM:616166 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Propionic Acidemia |
|
Organic aciduria, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia, Scapular winging |
OMIM:310095 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Right ventricular outlet tract obstruction, Left ventricular hypertrophy, ... |
ORPHA:99094 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Abnormal renal physiology, Arrhythmia, Nephropathy, Cardiomyopathy, Cardi... |
ORPHA:85447 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly |
OMIM:602079 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Cardiac amyloidosis, Abnormal renal medulla morpholo... |
ORPHA:439232 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Hypertension, Left ventricular hypertrophy, Flex... |
OMIM:616733 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... |
ORPHA:444013 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Skeletal muscle hypertrophy, Micropenis, Left ventricular hypertrophy, Macro... |
OMIM:613156 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Camptodactyly |
OMIM:618453 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Stroke, Systol... |
ORPHA:99105 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Sinus bradycar... |
OMIM:126320 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
| Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy, Nephrocalcinosis |
OMIM:616833 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase |
OMIM:616974 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391457 |
| Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Ventricular sep... |
OMIM:301500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Cerebral ischemia, Vasculitis, Myo... |
ORPHA:3287 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopathy, Congestive... |
OMIM:618234 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... |
OMIM:613313 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:102200 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Prolonged QT interval, Hyp... |
ORPHA:251274 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Heart murmur, Ragged-red muscle fiber... |
OMIM:615418 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Ventricular septal defect, Persistent left superior... |
OMIM:618775 |
| Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertro... |
OMIM:619167 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
| Congenital Fibrinogen Deficiency |
|
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal he... |
ORPHA:335 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Oligosacchariduria, Macroglossia, Left ventricular outflow tract obstruction, Left ... |
ORPHA:308552 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Bradycardia |
OMIM:617248 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy |
ORPHA:104 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhythmia, Lower li... |
ORPHA:746 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Cholestasis, Heart murmur, Pulmonic valve myxoma... |
ORPHA:615 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... |
OMIM:617021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Macroglossia, Bradycardia |
ORPHA:95717 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... |
OMIM:609286 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... |
OMIM:611705 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, N... |
OMIM:610198 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... |
OMIM:611615 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Tricuspid regurgi... |
ORPHA:1677 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... |
OMIM:616812 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Arrhythmia, Hepatic steatosis, Cardiomyopathy |
OMIM:606069 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... |
ORPHA:422 |
| Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... |
ORPHA:98911 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Increased muscle lipid content, Elevated hepatic transaminase, Hepatic steatosis, C... |
OMIM:610717 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Tachycardia, Elevated urinary delt... |
OMIM:121300 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... |
OMIM:255160 |
| Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
| Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Proteinuria, Renal insufficiency, Hypertension, Hypertrophic cardiomyopathy, Congesti... |
ORPHA:225 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Left ventricular hypertrophy, Vent... |
OMIM:615355 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Flexion contracture, Bradycardia |
OMIM:614498 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... |
ORPHA:75249 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Fatal liver failure in infancy, Cardiomyopathy |
ORPHA:254857 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Multicystic kidney dysplasia, Nephropathy, Ventricular septal defect, Renal... |
ORPHA:1909 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... |
OMIM:115195 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elev... |
ORPHA:263494 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoplasia of penis, Congestive heart fai... |
ORPHA:2022 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrop... |
OMIM:615474 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
| Dystonia 23 |
|
Torticollis, Arrhythmia |
OMIM:614860 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Abnormal renal corticomedullary... |
OMIM:617397 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... |
OMIM:613426 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic tra... |
OMIM:235200 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... |
OMIM:619433 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:614053 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... |
OMIM:600649 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Distal amyotrophy, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hyp... |
OMIM:232400 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:618378 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Naxos Disease |
|
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Sudden cardiac death, Arrhythmia, Elevated... |
ORPHA:156 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
| Amyloidosis, Finnish Type |
|
Renal insufficiency, Cardiac amyloidosis, Nephrotic syndrome, Cardiomyopathy |
OMIM:105120 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... |
OMIM:613155 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Apparent Mineralocorticoid Excess |
|
Stroke, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal insufficiency, H... |
ORPHA:320 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, Muscular dystrophy,... |
OMIM:613327 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Hepatic failure, Myoglobinuria, Arrhythmia, Red-brown urine, Rhabdomyolysis, Elevat... |
ORPHA:228305 |
| Marfanoid Hypermobility Syndrome |
|
Mitral regurgitation, Aortic regurgitation, Aortic aneurysm |
OMIM:154750 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... |
OMIM:611878 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... |
ORPHA:98909 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Facial palsy, Ethylmalonic aciduria, Myopathy |
OMIM:201470 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Renal artery stenosis, Generalized arterial calcification, Myocardi... |
OMIM:208000 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Cardiomyopathy, Hepatic steatosis, Ethylmalonic ... |
ORPHA:26792 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Nephropathy, Retinal hemorrhage, Hematur... |
OMIM:611773 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Bradycardia |
OMIM:608800 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Lower limb hypertonia, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly... |
OMIM:619487 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Arrhythmia, Elbow flexion contracture |
OMIM:616516 |
| Liddle Syndrome |
|
Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly |
OMIM:608540 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... |
ORPHA:369 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Elevated hepatic transa... |
OMIM:212140 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Conges... |
OMIM:266500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Heart murmur, Basilar artery calcification, Transient ischemic attack, Cardiomegaly... |
ORPHA:365 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycardia |
ORPHA:40366 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Ascending aortic dissection, Aortic regurgitation, Aortic root aneurysm, A... |
OMIM:619825 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... |
OMIM:115250 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Aminoaciduria, Stroke, Arrhythmia, Ventricular septal defect, Situs inversu... |
OMIM:249270 |
| Variegate Porphyria |
|
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... |
OMIM:176200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Pulmonary arterial hypertension, Skeletal muscle atrophy, Stroke-like episode, Brady... |
OMIM:619272 |
| Necrotizing Enterocolitis |
|
Peritonitis, Hypotension, Shock, Bradycardia, Abnormal heart morphology |
ORPHA:391673 |
| Tetanus |
|
Tachycardia, Hypertension, Elevated urinary epinephrine, Elevated urinary norepinephrine, Bradyca... |
ORPHA:3299 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, Hypertrop... |
ORPHA:276556 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Renal artery atherosclerosis, Hepatomegaly, Abnormality of the shoulder girdle m... |
ORPHA:565612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated hepatic transaminase, D... |
OMIM:612937 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Skeletal muscle atrophy, Hand muscle atrophy, Arrhythmia |
ORPHA:99944 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... |
OMIM:600996 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, Focal pan... |
ORPHA:276575 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy |
OMIM:614458 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... |
OMIM:619355 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... |
ORPHA:206549 |
| Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Macroglossia, Bradycardia |
ORPHA:226313 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... |
OMIM:178600 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Arrhythmia, Elevated hepatic transaminase, Hepatic steatosi... |
OMIM:255120 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... |
ORPHA:488650 |
| Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
| Primary Lipodystrophy |
|
Angina pectoris, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Type IV athe... |
ORPHA:90970 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy |
ORPHA:67048 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Abnormal carotid artery morphology, Aortic aneurysm, Myocarditis, Myo... |
ORPHA:3342 |
| Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Macroglossia, Bradycardia |
ORPHA:95716 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary urgency, Hypotension, Urinary incontinence |
OMIM:156310 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Tra... |
ORPHA:99103 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Gaucher Disease Type 2 |
|
Cardiac arrest, Hepatomegaly, Flexion contracture, Splenomegaly |
ORPHA:77260 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Abnormality of the liver, Left ventricular hypertrophy, Palpitations, Quadriceps... |
ORPHA:254892 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... |
OMIM:609452 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Urinary excretion of sialylated oligos... |
OMIM:256550 |
| Neonatal Lupus Erythematosus |
|
Abnormality of the liver, Hepatomegaly, Splenomegaly, Hepatic failure, Arrhythmia, Elevated hepat... |
ORPHA:398124 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, Hypertrop... |
ORPHA:276580 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Flexion contracture, Hypospadias, Camptodactyl... |
ORPHA:1194 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Myopathy, Congestive heart failure |
ORPHA:157973 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... |
OMIM:612954 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Tendon rupture, Mitral regurgitation, Pulmonary in... |
ORPHA:230851 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy |
OMIM:614096 |
| Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp... |
OMIM:619698 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
| Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
| Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... |
ORPHA:324 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated ca... |
ORPHA:352447 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Left ventricular ... |
OMIM:616564 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency, Hydronephrosis |
OMIM:611209 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... |
ORPHA:275766 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular septal defect, Pa... |
OMIM:613870 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... |
ORPHA:49827 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Glossopharyngeal Neuralgia |
|
Jaw claudication, Vascular dilatation, Bradycardia, Syncope |
ORPHA:221098 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Sudden cardiac death, Tachycardia, Elevated cir... |
OMIM:614921 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Atrial r... |
OMIM:270100 |
| Dk1-Cdg |
|
Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Elevated hepatic transamina... |
ORPHA:91131 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Exercise-induce... |
OMIM:201475 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Mitral regurgitation, Abdominal aortic aneurysm, Aortic arch aneurysm, Aor... |
OMIM:617168 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, Arthrogryposis multi... |
OMIM:232500 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Pulmonary art... |
OMIM:265400 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Facial palsy, Increased variability in muscle fiber diameter, L... |
ORPHA:171881 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Hypertrophic cardiomyopathy |
OMIM:617184 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Thrombotic Thrombocytopenic Purpura |
|
Stroke, Arrhythmia, Hematuria, Myocardial infarction, Renal insufficiency, Proteinuria, Acute kid... |
ORPHA:54057 |
| Sepsis In Premature Infants |
|
Decreased liver function, Hepatomegaly, Splenomegaly, Tachycardia, Hypotension, Reversible renal ... |
ORPHA:90051 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| D-Glyceric Aciduria |
|
Patent ductus arteriosus, Aminoaciduria, Micropenis, Bradycardia |
OMIM:220120 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... |
OMIM:130090 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Arrhythmia, Mitral valve prolapse, Gastrointestinal hemorrhage, Skeletal muscle atrophy, ... |
ORPHA:230839 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Skele... |
ORPHA:329336 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Perica... |
OMIM:239850 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Stroke, Hepatic failure, Dicarboxylic aciduria, Elevated hepati... |
OMIM:611126 |
| Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Atrial septal defect, Triceps weakness, Flexion con... |
ORPHA:70 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Seckel Syndrome 10 |
|
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Abdominal aortic aneur... |
OMIM:617253 |
| Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:93476 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... |
ORPHA:732 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hepatic failure, Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Rhabdomy... |
ORPHA:159 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left-to-right... |
ORPHA:99050 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:619386 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dicarboxylic aciduria, Dilated cardiomyopathy |
ORPHA:79159 |
| Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
| Infantile Refsum Disease |
|
Hepatomegaly, Facial palsy, Arrhythmia, Cardiomyopathy |
ORPHA:772 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Chronic kidney disease, Recurrent my... |
ORPHA:368 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Dilated ... |
OMIM:618805 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Hepatic failure, Elevated hepati... |
ORPHA:2394 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Arrhythmia, Dicarboxylic aciduria, Distal arthrogryposis,... |
ORPHA:42 |
| American Trypanosomiasis |
|
