| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... |
OMIM:612158 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... |
OMIM:608751 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... |
OMIM:613873 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Cardiomyopathy, Dilated, 1Kk |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... |
OMIM:615248 |
| Cardiomyopathy, Dilated, 1D |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... |
OMIM:601494 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
| Atrial Standstill |
|
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... |
ORPHA:1344 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... |
OMIM:611556 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... |
OMIM:614022 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... |
OMIM:619048 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Perimembranous ventricular septal... |
OMIM:618782 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... |
OMIM:601419 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602087 |
| Familial Dilated Cardiomyopathy |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... |
ORPHA:217607 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation |
OMIM:617280 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:617222 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Patent ductus arteriosus, Hypoplastic left heart, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Bradycardia, Ventricular tachycardia |
OMIM:611938 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602086 |
| Cog7-Cdg |
|
Hypertrophic cardiomyopathy |
ORPHA:79333 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:115195 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy |
OMIM:115196 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... |
OMIM:163800 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... |
OMIM:619402 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... |
OMIM:616201 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... |
OMIM:600884 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... |
OMIM:610476 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy |
OMIM:107970 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... |
ORPHA:63273 |
| Muscular Dystrophy, Becker Type |
|
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG |
OMIM:300376 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria, Cardiomyopathy |
OMIM:613657 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy |
OMIM:226000 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... |
OMIM:108900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... |
OMIM:608099 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... |
OMIM:108770 |
| Atrial Standstill 2 |
|
Palpitations, Atrial standstill, Atrial cardiomyopathy, Vascular dilatation, Atrial arrhythmia, A... |
OMIM:615745 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... |
OMIM:540000 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... |
OMIM:605362 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... |
ORPHA:3093 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated hepatic transaminase, Hypertrophic cardiomyopathy |
OMIM:614582 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... |
ORPHA:45453 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy |
OMIM:615395 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Abnormal heart morphology, Hypertrophic cardiomyopathy |
OMIM:618250 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy |
OMIM:300696 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:613255 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Micropenis, Flexion contracture, Dilated cardiomyopathy, Hypospadias, Bradycardia, Hypertrophic c... |
OMIM:618815 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function |
OMIM:609909 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... |
OMIM:611528 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... |
OMIM:614954 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Myofibrillar Myopathy 10 |
|
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... |
OMIM:619040 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephroti... |
OMIM:617713 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Hypotension, Hepatic steatosis, Ventricul... |
OMIM:212138 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... |
OMIM:609200 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... |
OMIM:613485 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613690 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... |
OMIM:604400 |
| Tako-Tsubo Cardiomyopathy |
|
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... |
ORPHA:66529 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Organic aciduria, Myopathy, Fatty replacement of skeletal muscle, C... |
OMIM:255100 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:613172 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... |
OMIM:181350 |
| Peripartum Cardiomyopathy |
|
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... |
ORPHA:563 |
| Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... |
OMIM:261740 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Foot dorsiflexor... |
ORPHA:263297 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... |
ORPHA:98912 |
| Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Nephropathy, Hepat... |
ORPHA:330001 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Timothy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... |
OMIM:601005 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Arrhythmia, Scapuloperoneal myopathy, Scapular winging, Flexion contracture, Lower limb muscle we... |
OMIM:300695 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia |
OMIM:612124 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... |
OMIM:609621 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Syncope |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Syncope |
OMIM:613697 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly |
OMIM:602079 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... |
ORPHA:216694 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... |
OMIM:614065 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Wolff-Parkinson-White Syndrome |
|
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... |
OMIM:194200 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Abnormal aortic morphology, Hypertension, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
| Tangier Disease |
|
Coronary artery atherosclerosis, Atherosclerosis, Hepatomegaly, Myocardial infarction, Distal amy... |
OMIM:205400 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... |
OMIM:613243 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Arrhythmia, Azoospermia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated... |
OMIM:602390 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia, Scapular winging |
OMIM:310095 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... |
ORPHA:99106 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Decreased liver function, Bradycardia, Elevated hepatic transami... |
OMIM:616299 |
| Gne Myopathy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... |
ORPHA:602 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:616198 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Vascular dilatation, ... |
OMIM:609040 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... |
OMIM:610193 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... |
ORPHA:86812 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... |
ORPHA:1345 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... |
OMIM:115197 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope |
OMIM:600919 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Arrhythmia, Nephropathy, Atrioventricular block, Cardiomegaly, Cardiom... |
ORPHA:85447 |
| Long Qt Syndrome 14 |
|
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy |
OMIM:609500 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Flexion contracture, Left ventricular hypertroph... |
OMIM:616733 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... |
ORPHA:229 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Romano-Ward Syndrome |
|
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... |
ORPHA:101016 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... |
OMIM:604772 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Cardiac conduction abnormality, Proteinuria, Abnormal cardiac ventricular fu... |
ORPHA:439232 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... |
OMIM:607450 |
| Cardiomyopathy, Dilated, 1A |
|
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... |
OMIM:115200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... |
OMIM:613156 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... |
OMIM:617912 |
| Nephronophthisis 16 |
|
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Cholestasis,... |
OMIM:615382 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... |
ORPHA:444013 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Arrhythmia |
OMIM:618453 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy |
OMIM:617336 |
| Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... |
OMIM:115000 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... |
ORPHA:90065 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, C... |
OMIM:613313 |
| Hsd10 Disease, Neonatal Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the liver, Hypertrophic card... |
ORPHA:391457 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase |
OMIM:616974 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... |
ORPHA:3208 |
| Cardiomyopathy, Dilated, 1S |
|
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... |
OMIM:613426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ... |
OMIM:618234 |
| Coproporphyria, Hereditary |
|
Hypertension, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly, Increased urinary porphobilinoge... |
OMIM:121300 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... |
OMIM:132900 |
| Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope |
ORPHA:871 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... |
ORPHA:45452 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... |
ORPHA:542306 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy |
OMIM:604401 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... |
ORPHA:300751 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... |
ORPHA:99105 |
| Distal Nebulin Myopathy |
|
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... |
ORPHA:399103 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Arrhythmia, Chronic hepatic failure, Lower limb muscle weakness, Tricuspid regurgitation, Cholest... |
ORPHA:746 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Lacticaciduria, Patent foramen ovale, Left ventricular systolic dysfunction, Ketonuria, Tricuspid... |
OMIM:619167 |
| Pituitary Adenoma 1, Multiple Types |
|
Cardiomyopathy, Left ventricular hypertrophy, Hypertension |
OMIM:102200 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Hepatomegaly, Cerebral hemorrhage, Decre... |
OMIM:617397 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... |
OMIM:135580 |
| Long Qt Syndrome 9 |
|
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest |
OMIM:611818 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Macroglossia, Bradycardia |
ORPHA:95717 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Facial hypotonia, Elevated circulating alanine aminotransferase concentration, Olig... |
ORPHA:308552 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Epistaxis, Hypertension, Hypercalciuria, Left ventricular hypertrophy, P... |
ORPHA:251274 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... |
OMIM:609286 |
| Danon Disease |
|
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... |
OMIM:300257 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, 3-Methylglutaconic aciduria |
OMIM:617248 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Hydroxykynureninuria |
|
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria |
OMIM:236800 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricula... |
ORPHA:335 |
| Alg1-Cdg |
|
Nephropathy, Hepatic failure, Hypertrophic cardiomyopathy |
ORPHA:79327 |
| Fabry Disease |
|
Arrhythmia, Angina pectoris, Urinary mulberry cells, Hypertension, Lipiduria, Myocardial infarcti... |
OMIM:301500 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy |
OMIM:618189 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... |
ORPHA:1055 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... |
OMIM:604286 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology |
ORPHA:111 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Decreased liver fu... |
OMIM:617021 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglutar... |
OMIM:610198 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Salih Myopathy |
|
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... |
OMIM:611705 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Persistent left superior vena ca... |
OMIM:618775 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... |
OMIM:616812 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Syncope, Prolonged QT interval, Ventricular tachycardia |
OMIM:614021 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia |
OMIM:611878 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... |
ORPHA:98911 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... |
OMIM:615355 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cholestasis, Cardiac myxoma, Jaundice, Heart murmur, Congestive heart fa... |
ORPHA:615 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... |
OMIM:615441 |
| Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Proteinuria, Hypertension, Congestive heart failure, Renal insufficiency, Hypertrophi... |
ORPHA:225 |
| Naxos Disease |
|
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... |
ORPHA:34217 |
| Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Cardiomyopathy |
ORPHA:254857 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... |
OMIM:600996 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Flexion contracture, Bradycardia |
OMIM:614498 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, M... |
OMIM:610717 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy |
OMIM:609308 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... |
ORPHA:1330 |
| Barth Syndrome |
|
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Abnormal mit... |
OMIM:302060 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Tachycardia, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
| Atrial Fibrillation, Familial, 4 |
|
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... |
OMIM:611493 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... |
OMIM:615474 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypoplasia of penis, Endocardial fibroelast... |
ORPHA:2022 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation |
ORPHA:104 |
| Variegate Porphyria |
|
Tachycardia, Porphyrinuria |
OMIM:176200 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy |
OMIM:606069 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... |
ORPHA:422 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Ventricular septal defect, Nephropathy, Multicystic kidney dysplasia, Renal... |
ORPHA:1909 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
| Naxos Disease |
|
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... |
OMIM:601214 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Arrhythmia, Azoospermia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepa... |
OMIM:235200 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Ventricular fibrillation, Tachycardia, Syncope |
OMIM:603829 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:220400 |
| Dystonia 23 |
|
Torticollis, Arrhythmia |
OMIM:614860 |
| Amyloidosis, Finnish Type |
|
Renal insufficiency, Cardiac amyloidosis, Cardiomyopathy, Nephrotic syndrome |
OMIM:105120 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Hypertrophic cardiomyopathy |
OMIM:617184 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatic steatosis, Muscular dystrophy, Flexion contracture, Atrial... |
OMIM:613327 |
| Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy |
OMIM:614053 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:616051 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Ventricular tachycardia, Hepatom... |
OMIM:600649 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Abnormal mitochondrial morphology, Hypertrophic cardiomyopathy |
OMIM:618378 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia |
OMIM:605676 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... |
ORPHA:399058 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Arrhythmia, Elevated hepatic transaminase, Sudden cardiac death, Hepatomegaly, Renal tubular acid... |
ORPHA:156 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... |
OMIM:613155 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:192500 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Distal am... |
OMIM:232400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... |
ORPHA:1457 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... |
OMIM:255160 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Arrhythmia, Ventricular hypertrophy, Elevated hepatic transaminase, Red-brown urine, Hepatic stea... |
ORPHA:228305 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Hepatic steatosis, Myopathy, Ethylmalonic acidur... |
ORPHA:26792 |
| Short Qt Syndrome 1 |
|
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... |
OMIM:609620 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Hypertrop... |
ORPHA:276556 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Arrhythmia, Elbow flexion contracture |
OMIM:616516 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:612347 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Muscular Dystrophy, Duchenne Type |
|
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... |
OMIM:310200 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Facial palsy, Myopathy, Ethylmalonic aciduria, Cardiomyopathy |
OMIM:201470 |
| Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... |
ORPHA:1329 |
| Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Flexion contracture, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... |
OMIM:608810 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Aminoaciduria, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyp... |
OMIM:268500 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... |
ORPHA:206559 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... |
ORPHA:75565 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... |
OMIM:616166 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Focal pan... |
ORPHA:276575 |
| Liddle Syndrome |
|
Arrhythmia, Nephropathy, Hypertension, Cerebral ischemia, Renal insufficiency |
ORPHA:526 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Bradycardia |
OMIM:608800 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... |
ORPHA:1880 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... |
OMIM:615415 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... |
OMIM:618654 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... |
OMIM:616827 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Conotruncal defect, Bradycardia, Atrioventricular canal defect |
ORPHA:40366 |
| Dpm3-Cdg |
|
Elevated hepatic transaminase, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles... |
ORPHA:263494 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakne... |
OMIM:266500 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular failure, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... |
OMIM:178600 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope |
OMIM:613695 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated hepatic transaminase, Reduced muscle carnitine level, Hepatic steatosis, Endocardial fib... |
OMIM:212140 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly |
OMIM:618052 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
EMG: myopathic abnormalities, Facial hypotonia, Lower limb muscle weakness, Left ventricular outf... |
ORPHA:365 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... |
ORPHA:75249 |
| Necrotizing Enterocolitis |
|
Peritonitis, Abnormal heart morphology, Hypotension, Shock, Bradycardia |
ORPHA:391673 |
| Tetanus |
|
Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypertension, Tachycardia, Bradyca... |
ORPHA:3299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Arrhythmia, Skeletal muscle atrophy |
ORPHA:99944 |
| Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... |
OMIM:115250 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Hypertension, Left ventricular hypertrophy, Abnormal urine sodium concentrat... |
ORPHA:320 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Cirrhosis, Elevated hepatic transaminase, Proteinuria, Hepatocellular carcinoma, Hepatic fibrosis... |
ORPHA:369 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Renal artery atheroscle... |
ORPHA:565612 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Urinary urgency, Urinary incontinence |
OMIM:156310 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyo... |
OMIM:612937 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... |
OMIM:613870 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... |
ORPHA:3287 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... |
ORPHA:206549 |
| Brugada Syndrome 3 |
|
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... |
OMIM:611875 |
| Distal Myopathy, Tateyama Type |
|
Palpitations, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic h... |
ORPHA:488650 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Diffuse pancreatic islet hyperplasia, Syncope, Hepatomegaly, Tachycardia, Hypertrop... |
ORPHA:276580 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Macroglossia, Bradycardia |
ORPHA:226313 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... |
OMIM:614300 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduria, Congestive heart failure, Left ven... |
OMIM:619355 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Supraventricular arrhythmia, Vascular dilatation, Nephropathy, Dilatation of the cereb... |
OMIM:611773 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhabdomyolysis, Sudde... |
OMIM:614921 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... |
ORPHA:34515 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:615418 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... |
ORPHA:3384 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosi... |
OMIM:255120 |
| 3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Decreased liver function, Cardiomyopathy |
ORPHA:67048 |
| Myopathy, Distal, 1 |
|
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... |
OMIM:160500 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatomegaly |
OMIM:615895 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Familial Thyroid Dyshormonogenesis |
|
Prolonged neonatal jaundice, Macroglossia, Bradycardia |
ORPHA:95716 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect |
ORPHA:53296 |
| Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
| Long Qt Syndrome 10 |
|
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... |
OMIM:611819 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Flexion contracture, Congestive heart failure, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... |
OMIM:609452 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Flexion contracture, Cardiac arrest, Splenomegaly |
ORPHA:77260 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, EMG: myopathic abnor... |
ORPHA:254892 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... |
OMIM:612954 |
| Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Elevated hepatic transaminase, ... |
ORPHA:398124 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Jervell And Lange-Nielsen Syndrome |
|
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope |
ORPHA:90647 |
| Primary Lipodystrophy |
|
Cirrhosis, Angina pectoris, Hepatic steatosis, Skeletal muscle hypertrophy, Hypertension, Type IV... |
ORPHA:90970 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Arrhythmia, Flexion contracture, Abnormal aortic valve morphology, Hepat... |
ORPHA:1194 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... |
ORPHA:437572 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... |
ORPHA:1209 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy |
OMIM:614096 |
| Mcleod Syndrome |
|
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Hepatosplenomegaly, Cardio... |
OMIM:300842 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... |
OMIM:616564 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Exerc... |
OMIM:201475 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Nephrolithiasis, Dilated cardiomyop... |
ORPHA:352447 |
| Glossopharyngeal Neuralgia |
|
Vascular dilatation, Bradycardia, Jaw claudication, Syncope |
ORPHA:221098 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... |
ORPHA:169186 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Renal insufficiency |
OMIM:611209 |
| Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Fabry Disease |
|
Conjunctival telangiectasia, Hematuria, Abnormal endocardium morphology, Renal insufficiency, Abn... |
ORPHA:324 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... |
ORPHA:99104 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... |
ORPHA:99103 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Arrhythmia, Situs inversus totalis, Ventricular septal defect, Aminoaciduri... |
OMIM:249270 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy |
OMIM:613673 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Hypospadias, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
| Long Qt Syndrome 12 |
|
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope |
OMIM:612955 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypertrophic cardiomyopathy |
OMIM:246900 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... |
ORPHA:275766 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... |
OMIM:616501 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Tendon rupture, Aortic regurgitation, Pulmonary insufficiency, Abnormal hea... |
ORPHA:230851 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Congestive heart failure, Tachycardia, Splenomegaly |
ORPHA:90037 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
| Transaldolase Deficiency |
|
Cirrhosis, Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Hepatosplenomeg... |
ORPHA:101028 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy |
OMIM:615084 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Urinary excretion of sialylate... |
OMIM:256550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... |
ORPHA:99050 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Sepsis In Premature Infants |
|
Hypotension, Reversible renal failure, Hepatomegaly, Jaundice, Oliguria, Decreased liver function... |
ORPHA:90051 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Acute kidney injury, Dark urine, Rhabdomyolysis, Tachycardia, ... |
ORPHA:368 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
| Cantu Syndrome |
|
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... |
OMIM:239850 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... |
OMIM:300580 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Flexion contracture, Tachycardia, Bradycardia |
OMIM:614653 |
| Glycogen Storage Disease Iv |
|
Cirrhosis, Arthrogryposis multiplex congenita, Tubulointerstitial fibrosis, Hepatic failure, Skel... |
OMIM:232500 |
| Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... |
OMIM:265400 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... |
ORPHA:231160 |
| Mahvash Disease |
|
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
OMIM:619290 |
| Cardiogenic Shock |
|
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... |
ORPHA:97292 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Ventricular extrasystoles, Tachycardia, Syncope |
OMIM:192445 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Polyvalvular Heart Disease Syndrome |
|
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... |
ORPHA:228410 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Arrhythmia, Elevated hepatic transaminase, Hypotension, Rhabdomyolysis, Ventricular tachycardia, ... |
ORPHA:159 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, A... |
OMIM:619386 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... |
ORPHA:732 |
| Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Facial diplegia, Flexion contracture, Quadriceps muscle weakness, Triceps w... |
ORPHA:70 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly |
ORPHA:93476 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Infantile Refsum Disease |
|
Hepatomegaly, Arrhythmia, Facial palsy, Cardiomyopathy |
ORPHA:772 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy |
ORPHA:98896 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:300718 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Abnormal cardiac ventricular function, Hepatomegaly, Increased uri... |
ORPHA:2394 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval |
OMIM:612240 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Limb muscle weakness, Weakness of ... |
ORPHA:329336 |
| American Trypanosomiasis |
|
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Myocarditis, Cardiomyopathy |
ORPHA:3386 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver funct... |
ORPHA:42 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy |
OMIM:602541 |
| Vici Syndrome |
|
Penile hypospadias, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:242840 |
| Dyskinesia, Familial, With Facial Myokymia |
|
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia |
OMIM:606703 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Elevated hepatic transaminase, Cardiomyopathy |
OMIM:604250 |
| Brugada Syndrome 6 |
|
Ventricular fibrillation, Cardiac arrest, ST segment elevation |
OMIM:613119 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Gastrointestinal hemorrhage, Precocious atherosclerosis, Skeletal muscle atrophy, Mit... |
ORPHA:230839 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dicarboxylic aciduria |
ORPHA:79159 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Reduced systolic ... |
OMIM:618805 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Prominent veins on trunk, Marked muscular hypertrophy, Hepatic steatosis, Skeletal mus... |
ORPHA:79083 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618228 |
| Sengers Syndrome |
|
Myopathy, 3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy |
OMIM:212350 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Hec Syndrome |
|
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy |
ORPHA:2119 |
| Sarcosinemia |
|
Pulmonic stenosis, Peroneal muscle weakness, Hypersarcosinuria, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Hypertension, Hepatic fibrosis, Left ventricular hypertrophy, Micropenis |
OMIM:209900 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive heart failure, Hepati... |
OMIM:611126 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:604377 |
| Familial Bicuspid Aortic Valve |
|
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... |
ORPHA:402075 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Fulminant hepati... |
OMIM:231530 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... |
ORPHA:91387 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Pelvic girdle muscle weakness, Myoglobinuria, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, ... |
ORPHA:119 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Cardiomy... |
OMIM:619003 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia |
ORPHA:324588 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Arrhythmia, Decreased muscle mass, Hepatocellular carcinoma, Elevated jugular venous p... |
ORPHA:465508 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... |
ORPHA:49827 |
| Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... |
ORPHA:98853 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Elevated urinary norepinephrine, Episodic hypertension, Cerebral... |
OMIM:171420 |
| Autoimmune Hemolytic Anemia |
|
Arrhythmia, Abnormal urinary color, Congestive heart failure, Splenomegaly |
ORPHA:98375 |
| Al Amyloidosis |
|
Macroglossia, Arrhythmia, Monoclonal light chain cardiac amyloidosis, Renal insufficiency, Gastro... |
ORPHA:85443 |
| Aa Amyloidosis |
|
Acute kidney injury, Enlarged kidney, Hypotension, Abnormal heart morphology, Nephropathy, Choles... |
ORPHA:85445 |
| Childhood-Onset Nemaline Myopathy |
|
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... |
ORPHA:171439 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... |
OMIM:611777 |
| Neuroendocrine Tumor Of The Colon |
|
Palpitations, Right ventricular failure, Elevated hepatic transaminase, Hypotension, Abnormal pul... |
ORPHA:100080 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Wild Type Abeta2M Amyloidosis |
|
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon ... |
ORPHA:85446 |
| Mucolipidosis Type Ii |
|
Diastasis recti, Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency,... |
ORPHA:576 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Arrhythmia |
ORPHA:2928 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Rhabdomyolysis, Tachycardia, Myoglobinuria |
OMIM:145600 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... |
ORPHA:3426 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
EMG: myopathic abnormalities, Arrhythmia, Decreased muscle mass, Acute kidney injury, Viral infec... |
ORPHA:57 |
| Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Abnormal left ventricular function, Cerebral artery atherosclerosis, Pr... |
