| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... |
OMIM:609200 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... |
OMIM:611880 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... |
ORPHA:63273 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
| Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
| Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Increased variability in muscle fiber diameter, Fatty replacement of skeletal ... |
OMIM:301075 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... |
ORPHA:98912 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
| Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy |
ORPHA:320360 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
| Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... |
OMIM:108770 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy |
OMIM:255100 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal... |
ORPHA:98911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... |
OMIM:604286 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy |
OMIM:609308 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy |
ORPHA:85447 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... |
OMIM:619566 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... |
OMIM:619903 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis |
OMIM:607685 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... |
OMIM:615352 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree... |
OMIM:617336 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,... |
OMIM:609452 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... |
OMIM:300718 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... |
ORPHA:206559 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Dilated cardiomyopa... |
OMIM:616827 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... |
OMIM:608358 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... |
OMIM:255160 |
| Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
| Propionic Acidemia |
|
Arrhythmia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
| Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Myopathy, Hepatomegaly, Cardiomyopathy |
OMIM:610717 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... |
OMIM:300580 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Splenomegaly, Cardiom... |
OMIM:602390 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, T-wave inversion, Vent... |
ORPHA:263297 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:605676 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Cardiomyopathy |
OMIM:613752 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy |
OMIM:618236 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618228 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... |
OMIM:613155 |
| Intermediate Nemaline Myopathy |
|
Flexion contracture, Facial palsy, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies... |
ORPHA:171433 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:613313 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Lower limb hype... |
ORPHA:1177 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy |
ORPHA:98896 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Myopathy, Hepatomegaly, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r... |
OMIM:619433 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy |
OMIM:602541 |
| Familial Dyskinesia And Facial Myokymia |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
ORPHA:324588 |
| Refsum Disease, Classic |
|
Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy |
OMIM:266500 |
| Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... |
OMIM:619051 |
| Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:93476 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... |
OMIM:252011 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... |
OMIM:615418 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ... |
OMIM:618234 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Cardiomyopathy |
ORPHA:26792 |
| Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... |
ORPHA:171439 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Splenomegaly, Hepatomegaly |
OMIM:269920 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
| Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... |
OMIM:612954 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio... |
OMIM:300280 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy |
OMIM:618237 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... |
OMIM:618652 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Muscu... |
ORPHA:300751 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
| Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Weakness of facial musculature, Skeletal muscle atrophy, Limb muscle weakness, Ab... |
ORPHA:329336 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
| Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
| Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... |
OMIM:235200 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Hepatomegaly, Cardiomyopathy |
OMIM:606069 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Right ventr... |
OMIM:265400 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragg... |
ORPHA:1349 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Lower limb muscle weakness, Calf muscle hypertrophy, Abnormal EKG, Red... |
ORPHA:268 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Abnor... |
OMIM:310200 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
OMIM:616896 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Muscle fiber atrophy, Myopathy, Scapular winging, Ragged-red muscle fibers, Hand ... |
ORPHA:254886 |
| Mulibrey Nanism |
|
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly |
OMIM:253250 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy |
ORPHA:767 |
| Nephronophthisis 16 |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulm... |
OMIM:615382 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Cerebral ischemia, Abnormal aortic valve morphology, Hypertensio... |
ORPHA:3287 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr... |
OMIM:261740 |
| Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... |
ORPHA:308552 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Generalized amyotrophy, Hepatomegaly, Ragged-red muscle fibers |
OMIM:613561 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... |
OMIM:212138 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... |
ORPHA:329478 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
| Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Noncompaction cardiomyop... |
OMIM:610198 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Nemaline ... |
OMIM:161800 |
| Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:616549 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Exercise-induced rhabdomyolysis... |
OMIM:201475 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:618378 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:246900 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Lower limb muscle weakness, Generalized limb muscle atrophy, Facial diplegia, Foot dorsiflexor we... |
ORPHA:521411 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... |
OMIM:600996 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ... |
OMIM:615959 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Abnormal atrioventricular conduction, Skeletal myopathy, Left ventricul... |
ORPHA:3208 |
| Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia |
OMIM:606703 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tachycardia |
ORPHA:276556 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly, Arrhythmia |
OMIM:255120 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Limb muscle weakness, Congestive heart failure, Cardiomyopathy |
OMIM:619259 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... |
OMIM:616866 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function |
ORPHA:229 |
| Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| American Trypanosomiasis |
|
Achalasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, Cardiom... |
ORPHA:3386 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... |
ORPHA:1194 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98853 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy |
ORPHA:2394 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Cardiomyopathy |
ORPHA:1215 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:228305 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl... |
OMIM:615084 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Arrhythmia |
ORPHA:156 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... |
ORPHA:88630 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Limb muscle weakness, Bradycardia, Arrhythmia, Ragged-red muscle fi... |
OMIM:609286 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
| Infantile Refsum Disease |
|
Facial palsy, Arrhythmia, Hepatomegaly, Cardiomyopathy |
ORPHA:772 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi... |
OMIM:615355 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tachycardia |
ORPHA:276575 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Camptodactyly of toe, Hypovolemic shock, Cardiomegaly, Cardiom... |
ORPHA:158687 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... |
OMIM:607598 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Telangiectasia... |
ORPHA:79279 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Skeletal muscle atrophy, Portal hypertension, Arthrogryposis multiplex congen... |
OMIM:232500 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tachycardia |
ORPHA:276580 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ... |
ORPHA:565612 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Right ventricular dilatation, Tricus... |
OMIM:619705 |
| Primary Lipodystrophy |
|
Angina pectoris, Congestive heart failure, Hypertension, Myopathy, Skeletal muscle hypertrophy, S... |
ORPHA:90970 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy |
OMIM:618241 |
| Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor... |
ORPHA:732 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... |
ORPHA:52430 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath... |
ORPHA:272 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Cardiomegaly, Hypertension |
OMIM:613320 |
| Dk1-Cdg |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... |
ORPHA:91131 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart morphology |
ORPHA:70472 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98855 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98863 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy, Hepatomegaly |
OMIM:618805 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy |
OMIM:619046 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:79312 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy |
OMIM:300438 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Patent foramen ovale |
OMIM:614582 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Facial telangiectasia, Abnormal pulmonary valve cusp morphology, Melena, Right ventr... |
ORPHA:100080 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
| Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Hepatomegaly, Splenomegaly, Atrial fibrillation... |
OMIM:300842 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contracture, Macroglossia... |
OMIM:607155 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Portal hypertension, Enlarged kidney, Hepatosplenomegaly |
OMIM:619902 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:369 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic cardiomyopathy, Ske... |
ORPHA:368 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture |
OMIM:618120 |
| Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
OMIM:145350 |
| Glycogen Storage Disease Ii |
|
Right axis deviation, Firm muscles, Sinus tachycardia, Wolff-Parkinson-White syndrome, Macrogloss... |
OMIM:232300 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Tricuspid regurgitation, Left vent... |
ORPHA:746 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Muscle fiber atrophy, Generalized... |
OMIM:258450 |
| Pseudoxanthoma Elasticum |
|
