| His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Cardiomyopathy,... |
OMIM:608099 |
| Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| 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 Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... |
ORPHA:63273 |
| Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Mildly elevated creatine kinase,... |
OMIM:614065 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226000 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles,... |
OMIM:300696 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure |
OMIM:613255 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Calf musc... |
OMIM:300376 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... |
OMIM:619402 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular... |
OMIM:612999 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... |
OMIM:181350 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:604286 |
| Distal Myotilinopathy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber myotilin, EMG: myopathi... |
ORPHA:98911 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardi... |
OMIM:255100 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
| Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... |
ORPHA:98912 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Flexion c... |
OMIM:609308 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613697 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Autophagic vacuoles, Facial diplegia, Cardiom... |
ORPHA:399058 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... |
ORPHA:75566 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... |
OMIM:615373 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy |
OMIM:617336 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
| Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentrat... |
OMIM:608810 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Elevated circulating c... |
OMIM:160500 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Elevated circula... |
OMIM:255160 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation |
OMIM:613690 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... |
ORPHA:206546 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Azoospermia, Cardiomyopathy, Arthritis, Splenomegaly, Incre... |
OMIM:602390 |
| Myopathy, Myofibrillar, 4 |
|
Elevated circulating creatine kinase concentration, Autophagic vacuoles, EMG: myopathic abnormali... |
OMIM:609452 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation |
OMIM:613874 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase conce... |
ORPHA:34515 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Elevated circulating creatine kinase concentration, Macroglossia, Facial palsy, Cardiomyopathy, C... |
OMIM:613155 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... |
ORPHA:206569 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology |
ORPHA:111 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Elevated circulating creatine... |
OMIM:616827 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Hypoglyco... |
OMIM:615352 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Increased mitochondrial number, Palpitations, Ventricular tachycardia, Ven... |
ORPHA:263297 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase ... |
ORPHA:263494 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... |
ORPHA:563 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Elevated circulating cre... |
ORPHA:206559 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase conc... |
OMIM:610717 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness |
OMIM:606842 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Rimmed vacu... |
OMIM:612937 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Atrioventricu... |
OMIM:115197 |
| Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Facial palsy, Ge... |
OMIM:612954 |
| Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... |
OMIM:611705 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
| Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy |
OMIM:615119 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... |
OMIM:619424 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture, Elev... |
OMIM:300718 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:616051 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiom... |
OMIM:617713 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Increased circulating ferritin concentration, Congest... |
OMIM:613313 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Eczema, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure |
OMIM:618234 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... |
ORPHA:86812 |
| Fixed Subaortic Stenosis |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Calf... |
ORPHA:98896 |
| Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Mildly elevated creatine kinase... |
ORPHA:171442 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... |
ORPHA:2041 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... |
OMIM:602541 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
| Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Arrhythmia, Cardiomyopathy |
ORPHA:85447 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... |
OMIM:613243 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
| Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p... |
ORPHA:767 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Ventricular hypertrop... |
OMIM:232400 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Card... |
ORPHA:119 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscu... |
OMIM:310200 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture |
OMIM:201470 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia, Patent ductus arteriosus |
OMIM:616276 |
| Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
| American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Infectious encephalitis, Cardiomyopathy, Splenomegaly, Achalasia, Cong... |
ORPHA:3386 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Elevated circulating creatine kina... |
OMIM:600649 |
| Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Hepatomega... |
ORPHA:732 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
| Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
| Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Increased circulating ferritin concentration, Osteoarthritis, Arrhy... |
OMIM:606069 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... |
ORPHA:615 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, ... |
ORPHA:860 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
| Familial Cutaneous Collagenoma |
|
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris |
ORPHA:53296 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo... |
OMIM:619433 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly |
OMIM:608540 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy |
OMIM:614096 |
| Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... |
ORPHA:262 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Hemochromatosis, Type 1 |
|
Telangiectasia, Hepatomegaly, Azoospermia, Cardiomegaly, Cardiomyopathy, Splenomegaly, Increased ... |
OMIM:235200 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r... |
ORPHA:85414 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Abnormal mitochondrial morphology |
OMIM:618378 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Hand muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase co... |
ORPHA:254886 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... |
OMIM:302060 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... |
OMIM:212140 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
| Rheumatic Fever |
|
Myocarditis, Sinusitis, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis, Endoc... |
ORPHA:3099 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
| Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Elevated circulating creatine kinase conce... |
OMIM:300842 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... |
ORPHA:439 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Elevated circulating creat... |
OMIM:258450 |
| Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Bacterial endocarditis... |
ORPHA:99095 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis, Congenital finger flexion contractures, Wrist flexion contr... |
OMIM:208250 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Mitral regurgitation, Elevated circulating creatine kinase concentration, Ventricular hypertrophy... |
OMIM:300280 |
| Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... |
OMIM:601005 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... |
OMIM:615418 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology |
ORPHA:93476 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure |
ORPHA:225 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... |
OMIM:609040 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy |
OMIM:605676 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... |
ORPHA:3287 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... |
OMIM:261740 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618228 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Prolonged... |
ORPHA:231111 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... |
OMIM:616501 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Cardiomyopathy |
ORPHA:26792 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:604377 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Increased C-peptid... |
ORPHA:276556 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Refsum Disease, Classic |
|
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:266500 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Hemochromatosis, Type 3 |
|
Arthritis, Increased circulating ferritin concentration, Cardiomyopathy |
OMIM:604250 |
| Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... |
ORPHA:829 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618236 |
| Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, C... |
ORPHA:98909 |
| Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, M... |
OMIM:161800 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia |
OMIM:606703 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hepatomegaly, Increased muscle lipid content, Coronary arte... |
ORPHA:565612 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, El... |
OMIM:201475 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly |
OMIM:613673 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... |
ORPHA:75249 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Congestive heart failure, Splenomegaly |
ORPHA:163596 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Abnormality of serum cytokine level, Pulmonary arterial hypertension, Arthritis, Art... |
ORPHA:464343 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:615084 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... |
OMIM:212138 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Increased C-peptid... |
ORPHA:276575 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hypoalbuminemia, Reduced systolic function |
OMIM:618805 |
| Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Facial palsy, Hip contracture |
OMIM:615959 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Eleva... |
ORPHA:352447 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Tubulointerstitial nephritis, ... |
ORPHA:183 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Increased C-peptid... |
ORPHA:276580 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
| Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... |
OMIM:615382 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Cardiomyopathy, Ab... |
ORPHA:329336 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Cystic acne, Increased circulating interleukin 6, Panniculitis, Acne inve... |
OMIM:608068 |
| Antisynthetase Syndrome |
|
Myocarditis, Keratoconjunctivitis sicca, Myositis, Elevated circulating creatine kinase concentra... |
ORPHA:81 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Arrhythmia |
OMIM:255120 |
| Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... |
OMIM:115250 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... |
OMIM:610198 |
| Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Ventricular hyper... |
OMIM:617321 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Elevated circulating creatine... |
ORPHA:268 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Cardiomyopathy, Rimme... |
ORPHA:52430 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... |
ORPHA:98863 |
| Congenital Enterovirus Infection |
|
Myocarditis, Infectious encephalitis, Pericardial effusion, Hepatitis, Cardiomyopathy, Skin rash,... |
ORPHA:292 |
| Thymic Tumor |
|
Dysgammaglobulinemia, Cardiac arrest, Pericarditis |
ORPHA:100100 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly |
OMIM:269920 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:98855 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... |
OMIM:619051 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated c... |
ORPHA:368 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
| Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Pancreatitis, Elevated circulating creatine kinase ... |
OMIM:619386 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Ventricular hypertrop... |
ORPHA:228305 |
| Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Anterior uveitis, Splenomegaly, Skin rash, Hypotension |
ORPHA:83317 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... |
OMIM:600996 |
| Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia |
ORPHA:79327 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Sinusitis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulat... |
ORPHA:36234 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Patent ductus arteriosus, Atria... |
OMIM:618652 |
| Scleroderma |
|
Right ventricular failure, Syncope, Myocarditis, Fasciitis, Raynaud phenomenon, Transient ischemi... |
ORPHA:801 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:246900 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ma... |
ORPHA:308552 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:614462 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Lymphadenitis, Cardiomegaly, Increased circulating ferritin co... |
OMIM:618886 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... |
ORPHA:1349 |
| Aorta Coarctation |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranou... |
ORPHA:1457 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Infectious encephalitis, Abnormal aortic valve morphol... |
ORPHA:1194 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... |
ORPHA:1677 |
| Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Perica... |
ORPHA:781 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Hypertension, Pericarditis, Monoclonal immunoglobulin M proteinemia, Abnormal he... |
ORPHA:91139 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension |
ORPHA:188 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:614299 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... |
ORPHA:324410 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration |
OMIM:618120 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect |
OMIM:615981 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure, Myocardial fibrosis |
OMIM:253250 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
| Microscopic Polyangiitis |
|
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Epistaxis, Arthritis, Pancreatitis, Increased... |
ORPHA:727 |
| Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... |
ORPHA:31205 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating crea... |
ORPHA:42 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase conce... |
OMIM:607155 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture |
OMIM:616549 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
| Juvenile Dermatomyositis |
|
Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase concentration, Telangiec... |
ORPHA:93672 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopat... |
ORPHA:465508 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
| Legionnaires Disease |
|
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancreatitis, Spleno... |
ORPHA:549 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... |
ORPHA:139402 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Myopathy, Flexion contracture |
OMIM:618237 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... |
OMIM:609286 |
| Whipple Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Splenomega... |
ORPHA:3452 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Cardiomyopathy, Patent ductus arteriosus, Arthrogryposis multiplex congen... |
OMIM:616866 |
| Hemochromatosis Type 2 |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration |
ORPHA:79230 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... |
ORPHA:555874 |
| Hec Syndrome |
|
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy |
ORPHA:2119 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
| Glycogen Storage Disease Ii |
|
Firm muscles, Hepatomegaly, Elevated circulating creatine kinase concentration, Macroglossia, Car... |
OMIM:232300 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia |
ORPHA:156 |
| Roifman Syndrome |
|
Eczema, Noncompaction cardiomyopathy, Hip contracture, Decreased circulating antibody level, Recu... |
ORPHA:353298 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy |
ORPHA:2394 |
| Infantile Refsum Disease |
|
Cardiomyopathy, Hepatomegaly, Facial palsy, Arrhythmia |
ORPHA:772 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:79312 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Generalized amyotrophy |
OMIM:613561 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... |
ORPHA:444013 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia, Hepatomegaly, Telangiectasia of the skin, Generalize... |
ORPHA:79279 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Eczema, Ventricular septal defect, Mitral regurgitation, Patent duct... |
OMIM:615355 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy |
OMIM:105210 |
| Primary Lipodystrophy |
|
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Pancreatitis, Splenomegaly, ... |
ORPHA:90970 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
OMIM:616896 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine ki... |
OMIM:614921 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Uveitis, Vasculitis, Ski... |
ORPHA:32960 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Hepatosplenomegaly, ... |
OMIM:232500 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Proximal muscle weakness in u... |
ORPHA:363623 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy |
ORPHA:1215 |
| Felty Syndrome |
|
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, A... |
ORPHA:47612 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus |
ORPHA:229 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Myositis, Pulmonary arterial... |
ORPHA:809 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
| Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Eczema, Noncompaction cardiomyopathy, Hip contracture, R... |
OMIM:616651 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Skeletal muscle atrophy, Abnormal cardiomyocyte m... |
ORPHA:367 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy |
OMIM:611719 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure |
ORPHA:70472 |
| Dk1-Cdg |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... |
ORPHA:91131 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Atrioventricular block, Abnormal hea... |
ORPHA:398124 |
| Systemic Sclerosis |
|
Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Elevated circulati... |
ORPHA:90291 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Bronch... |
ORPHA:980 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:604273 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Left ventricular systolic dysfunction... |
OMIM:619167 |
| Heart Block, Congenital |
|
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... |
OMIM:234700 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Pulmonic s... |
OMIM:615415 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Pelvic girdle muscle weakness, Abnormal circulating creatine kinase concentration, ... |
ORPHA:98908 |
| Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy... |
ORPHA:449280 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
| Blau Syndrome |
|
Hypertension, Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulom... |
OMIM:186580 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Cardiomyopathy |
ORPHA:27 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Tubulointerstitial nephritis, Patent foramen ovale |
OMIM:614582 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnorm... |
ORPHA:26791 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:618839 |
| Relapsing Polychondritis |
|
Myocarditis, Abnormal endocardium morphology, Pericarditis, Episcleritis, Chondritis of pinna, Ch... |
ORPHA:728 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Glomerulonephritis, ... |
ORPHA:99931 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Limb muscle weakness |
OMIM:619259 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Splenomegaly |
OMIM:619046 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Elevated creatine kinase after exercise, R... |
ORPHA:159 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypertension, Hepatomegaly, Pericarditis, Pericardial effusion, Increased blood pressure, Left ve... |
OMIM:619487 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Elev... |
ORPHA:99901 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroelastosis, Increased circulati... |
OMIM:619313 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Macroglossia, Ca... |
ORPHA:370959 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Acute colitis, Congestive heart failure, Hypoalbuminemia, Abnormal per... |
ORPHA:67 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... |
ORPHA:746 |
| Pseudoxanthoma Elasticum |
|
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Restrictive c... |
OMIM:264800 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:369 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Inflammatory abnormality of the skin, Ventricular septal... |
ORPHA:26793 |
| Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy |
OMIM:617183 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Diffuse al... |
ORPHA:99827 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... |
ORPHA:363705 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Hepatomegaly... |
ORPHA:85443 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis |
OMIM:231530 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611126 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormality of skeletal muscle fiber size, Myopathy, H... |
ORPHA:79083 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:96 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Splenomegaly |
ORPHA:848 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hepatomegaly, S... |
ORPHA:2348 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:607426 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Behçet Disease |
|
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Splenomegaly, Gastrointestinal hem... |
ORPHA:117 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:212112 |
| Kearns-Sayre Syndrome |
|
Cardiomyopathy, Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia |
OMIM:530000 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnorm... |
ORPHA:370 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia |
OMIM:619170 |
| Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Transient ischemic attack, Elev... |
ORPHA:1304 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Peritonitis, Elevated circulating amyloid A, Arthritis, Splenomegaly,... |
OMIM:249100 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Postinfectious Vasculitis |
|
Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Inflammatory abnormali... |
ORPHA:48435 |
| Kawasaki Disease |
|
Myocarditis, Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal def... |
ORPHA:2331 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
| Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Tubulointerstitial nephritis, Elevated circulating creatine kinase concentration, C... |
ORPHA:228308 |
| Sweet Syndrome |
|
Dilated cardiomyopathy, Increased circulating interleukin 6, Inflammation of the large intestine,... |
ORPHA:3243 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
| Colchicine Poisoning |
|
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension |
ORPHA:31824 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Atrial septal defect, Patent ductus arteriosus |
ORPHA:1842 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Subconjunctival hemorrhage, Rhinitis, Fulminant hepatitis, Bradycardia, Macul... |
ORPHA:319213 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Elevated circulatin... |
OMIM:618775 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect, Minimal change glomerulonephritis, Hypoalbumin... |
OMIM:616730 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Increased intramyocel... |
ORPHA:98907 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Esophagitis, Tela... |
ORPHA:3342 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:618835 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Cardiomyopathy |
ORPHA:1493 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
| Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle hypertrophy, Macroglossia, Congestive ... |
ORPHA:528 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation |
OMIM:226100 |
| Acquired Generalized Lipodystrophy |
|
Hypertension, Myopathy, Hepatomegaly, Panniculitis, Cardiomyopathy, Abnormal cardiovascular syste... |
ORPHA:79086 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Decreased circulating IgG level, Cardiomyopathy, Chronic mucocu... |
OMIM:242840 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction |
OMIM:145350 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Aortic regurgitation, Recurrent otitis m... |
OMIM:252500 |
| Alg3-Cdg |
|
Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy |
ORPHA:79321 |
| Refsum Disease |
|
Skeletal muscle atrophy, Cardiomyopathy, Heart block, Splenomegaly |
ORPHA:773 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Antenatal intracerebral hem... |
OMIM:608836 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture |
OMIM:616897 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Congestive ... |
OMIM:609015 |
| Propionic Acidemia |
|
Hepatomegaly, Eczema, Limb hypertonia, Pancreatitis, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Abnormal heart v... |
OMIM:230500 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentrat... |
OMIM:607459 |
| Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis, Hematochezia |
OMIM:203300 |
| Shigellosis |
|
Myocarditis, Hypovolemic shock, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Rhabdo... |
ORPHA:810 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Nephritis, Patent ductus arteriosus, Spl... |
OMIM:617303 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Myopathy, Tubulointerstitial nephritis, Elevated circulating creatine kinase concen... |
ORPHA:157 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Myopathy, Cardiomyopathy |
OMIM:614922 |
| Listeriosis |
|
Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Pneumonia, Endocarditis, Peritonitis... |
ORPHA:533 |
| Microsporidiosis |
|
Myocarditis, Cholangitis, Sinusitis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... |
ORPHA:2552 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Episclerit... |
OMIM:602782 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Distal lower limb... |
ORPHA:892 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Hypertension, Pericarditis, Prostatitis, Chronic otitis media, Epistaxis, Pancreatitis... |
ORPHA:900 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Pneumonia, Weakness of facial musculature, Cardiomyopathy, Raynaud ... |
ORPHA:247691 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Highly elevated creatine kinase, Absent muscle fiber merosin, Reduced ejection fraction, Myositis... |
ORPHA:258 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cardiomyopathy, Skin rash |
OMIM:618321 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:619053 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus |
ORPHA:1517 |
| Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Myocardial infarction, Vasculit... |
ORPHA:342 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure |
OMIM:229300 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Hypoalbum... |
ORPHA:88618 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Infectious encep... |
ORPHA:354 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... |
ORPHA:2442 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ma... |
ORPHA:365 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8, Parotitis, Splenomegaly, Camptodactyly of finger, Elevated c... |
OMIM:256040 |
| Penoscrotal Transposition |
|
