Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mitochondrial tRNA translation optimization 1
Synonyms:
2310039H01Rik,  5730419A02Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mto1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mto1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Dystonia, Small for gestational age, Failure to thrive, Arrhythmia OMIM:614702

The table below shows human diseases predicted to be associated to Mto1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
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
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Atrioventricular block, Achilles tendon contracture, Waddling gait, Decreased cervical ... OMIM:310300
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Gait imbalance, Weakness of facial musculature, Hip flex... ORPHA:63273
Desminopathy
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, L... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... OMIM:614954
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Leg muscle stiffness, Impaired vibration sensation in the lower limbs, Distal low... ORPHA:320360
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98855
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Atrioventricu... OMIM:115197
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Ventricular preexcitation, Retinal telangiectasia, Ataxia, Arrhythmia,... ORPHA:104
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
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomegaly, Cardiomyopathy, Arrhythmia ORPHA:85447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Failure to thrive, A... OMIM:618378
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, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Barth Syndrome
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Skeletal myopathy, Failure... OMIM:302060
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... ORPHA:98912
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Nonprogressive cereb... OMIM:610198
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Kearns-Sayre Syndrome
Ataxia, Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Failure to thrive, Ventricular hypertrophy, Bradyc... OMIM:619048
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... OMIM:300257
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... OMIM:616812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... OMIM:619040
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Failure to thrive, Atrioventricular block, Bradycardia, Intention tremor, Truncal ataxi... OMIM:614407
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... OMIM:616201
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... ORPHA:1329
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia OMIM:300696
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia, Patent ductus arteriosus OMIM:616276
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapulopero... OMIM:300695
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Peroneal muscle atrophy, Trophic limb changes, Distal amyotrophy, Atrioventricular block, Abnorma... OMIM:118230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EM... OMIM:609286
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Loeffler Endocarditis
Left atrial enlargement, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Palpitations,... ORPHA:75566
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Ataxia, Deafness, And Cardiomyopathy
Ataxia, Cardiomyopathy OMIM:208750
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 45
Decreased activity of mitochondrial complex IV, Failure to thrive, Tremor, Ataxia, Cardiac arrest... OMIM:618951
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... ORPHA:26793
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Autoimmune Hypoparathyroidism
Prolonged QT interval, Paresthesia, Ventricular arrhythmia, Laryngeal dystonia, Irritability, Anx... ORPHA:36913
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Generalized limb muscle atrophy, Prolonged QT interval, Congenital muscular dystrophy, Hypoglycos... OMIM:615351
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Atrioventricular block, Abnormal hea... ORPHA:398124
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Dystonia, Bradycardia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Tremor, Ataxia, Unsteady gait, Obesity... OMIM:614947
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology, Failure to thrive OMIM:618250
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetosis OMIM:300438
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Impaired pain sensation OMIM:167400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia OMIM:614302
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Steppage gait, Cardiomyopathy, Distal amyotrophy, Impaired dis... OMIM:610100
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Head tremor, Arrhythmia, Limb dyst... OMIM:614860
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Myopathy, Cardiomyopathy, Fatty replacement of skeletal muscle OMIM:255100
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Paresthesia, Card... ORPHA:466677
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Mitochondrial depletion, Facial palsy, Flexion contracture, Cal... OMIM:611705
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Nathalie Syndrome
Arrhythmia ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Trophic limb changes, Orthostatic hypotension, Atrioventricular block, A... OMIM:118301
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Cardiomyopathy, Waddling gait, Scapular winging, Nemaline bodies OMIM:617336
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Decreased 3-hydroxyac... ORPHA:71212
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... ORPHA:45452
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Dystonia, Prolonged QT interval, Generalized amyotrophy, Ataxia, Diaphrag... ORPHA:66634
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Friedreich Ataxia
Hypertrophic cardiomyopathy, Mitochondrial malic enzyme reduced, Abnormal echocardiogram, Impaire... OMIM:229300
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Paresthesia, Laryngeal dystonia ORPHA:94090
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Cardiomyopathy, Ataxia, Arrhythmia OMIM:530000
Rett Syndrome
Dystonia, Cachexia, Abnormal T-wave, Skeletal muscle atrophy, Prolonged QTc interval, Truncal ata... OMIM:312750
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Ventricular tachycardia, Torsade de poin... OMIM:616878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Mitral valve prolapse, Impaired distal proprioception, Mitral regurgita... OMIM:258450
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Abnormal EKG, Low... ORPHA:1177
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... ORPHA:1677
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Necrotizing myopathy, Ventricular tachycardia, Supraventricula... ORPHA:423
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations,... OMIM:170390
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Bradycardia OMIM:617248
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Holt-Oram Syndrome
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Patent ductus a... ORPHA:392
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Gait imbalance, Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Ca... ORPHA:329336
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Paresthesia, Laryngeal dystonia, Irritability, Anxiety, Depression ORPHA:94089
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... ORPHA:352447
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Myopathy, Slender build, Decreased mitochondrial number, Difficulty walking, Mu... ORPHA:352470
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Hand muscle weakness, Ragged-red muscle fibers, Paresthesia, Shuffling gait, Bradykines... ORPHA:254886
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardiomyopathy, Distal amyotrophy, ... ORPHA:98911
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Skeletal muscle hypertrophy, Failure to... OMIM:613327
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Difficulty wa... ORPHA:399058
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Patent foramen ovale, Prolonged PR interval, Sick sinus s... ORPHA:542306
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Resting tremor, Congestive heart failu... OMIM:606703
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Lyme Disease
Atrioventricular block, Paresthesia, Arrhythmia ORPHA:91546
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Dystonia, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle ti... OMIM:252011
Ogden Syndrome
Premature ventricular contraction, Ventricular septal defect, Ventricular tachycardia, Supraventr... OMIM:300855
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Spastic gait, Impaired vibration sensation in the lower limbs, Abnormal... ORPHA:99013
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... ORPHA:137675
Symmetrical Thalamic Calcifications
Failure to thrive, Ataxia, Arrhythmia ORPHA:1314
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Waddling gait, Congestive heart failu... OMIM:310200
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... ORPHA:251274
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... OMIM:261740
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... ORPHA:2041
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Lethargy ORPHA:95717
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Congestive heart... OMIM:602390
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities, Ataxia, Abno... ORPHA:480864
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Muscular dystrophy, Arrhythmia, Shoulder girdle muscle weakness OMIM:310095
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Low-output congestive heart failure, Ab... ORPHA:91130
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Unsteady gait, Ataxia, Skeletal muscle atrophy, Right bundle branch block OMIM:616479
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Ventricular arrhythmia, Quadriceps muscle weakness, Anxiety, Lethargy, Ga... ORPHA:254892
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Dystonia, Ventricular septal defect, Decreased activity of the pyruv... ORPHA:255241
Gitelman Syndrome
Prolonged QT interval, Paresthesia, Palpitations, Ventricular tachycardia, Failure to thrive, Ata... OMIM:263800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy, Distal sensory impairment, Nem... OMIM:606842
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Failure to thrive, Facial palsy, Cardiomyopathy, Flexion contracture, Lethargy OMIM:201470
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Opisthotonus, Failure to thrive, Pulmonary arterial hypertension, Bradyc... OMIM:619272
Developmental And Epileptic Encephalopathy 35
Irritability, Cardiomyopathy, Limb tremor OMIM:616647
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Dystonia, Small for gestational age, Failure to thrive, Arrhythmia OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Skeletal muscle atrophy, Distal sensory impairment, Arrhythmia, Hand muscle atr... ORPHA:99944
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Facial palsy, Tachycardia, Eupho... ORPHA:31826
Myopathy, Distal, 1
Dilated cardiomyopathy, Gait disturbance, Toe extensor amyotrophy, Ragged-red muscle fibers, Faci... OMIM:160500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block OMIM:613158
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Prolonged QT interval, Palpitations, Weight loss, Increased int... ORPHA:79102
Myotonic Dystrophy 1
First degree atrioventricular block, Facial diplegia, Atrial flutter, Atrial fibrillation OMIM:160900
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Type 1 muscle fiber predominance, Increased muscle lipid content... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... ORPHA:860
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Myopathy, Cachexia, Skeletal muscle atrophy, Congestive heart failure, Flexion ... ORPHA:157973
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertro... ORPHA:369929
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Ataxia, Congestive heart failure, Arrhythmia ORPHA:225
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Mitochondrial malic enzyme reduced, Abnormal echocardiogr... OMIM:302900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Muscular dystrophy, Difficulty walking, Flexion contracture, Limb-girdle muscle w... OMIM:609308
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Weight loss, Bradycardia, Anxiety, Dysesthesia, Depression ORPHA:221098
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Skeletal muscle atrophy, Dysmetria, Trem... ORPHA:96
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Frontotemporal Dementia With Motor Neuron Disease
Apathy, Generalized amyotrophy, Progressive cerebellar ataxia, Abnormal mitochondrial morphology,... ORPHA:275872
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Mitral regurgitation,... ORPHA:324
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Failure to thrive, Congestive heart failure OMIM:618234
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Mitochondrial hypertrophy, Fiber type grouping, Decreased activity of mi... OMIM:500013
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Ataxia, Congestive heart failure, Arrhythmia,... OMIM:266500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Failure to thrive, Cardiomyopathy, Lethargy ORPHA:26792
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, In... OMIM:613155
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Abnormal muscle fiber morp... ORPHA:732
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Hepatosplenomegaly, Person... OMIM:300842
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Bradycardia ORPHA:40366
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ataxia, Emotional lability, Peroneal muscle weakness ORPHA:3129
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Muscular dystrophy, Arrhythmia, Elbow flexion contracture OMIM:616516
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Failure to thrive, Endocardial fibroelastosi... OMIM:212140
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Cardiomyopathy, Difficulty walking OMIM:610717
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Dystonia, Difficulty walking OMIM:618222
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Anxiety, Depression OMIM:121300
Trimethylaminuria
Hypertension, Depression, Tachycardia, Splenomegaly OMIM:602079
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Resting tremor, Congestive heart failu... ORPHA:324588
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion c... OMIM:612954
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 3
Hyperactivity, Hypomimic face OMIM:608443
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Palpitations, Calf muscle hypoplasia, EMG: myopathic abno... ORPHA:488650
Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation OMIM:613690
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy,... OMIM:612937
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Mucopolysaccharidosis Type 3
Gait disturbance, Hepatomegaly, Reduced ejection fraction, Abnormal mitral valve morphology, Loss... ORPHA:581
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Right ventricular hy... ORPHA:444013
Infantile Refsum Disease
Hepatomegaly, Failure to thrive, Facial palsy, Cardiomyopathy, Ataxia, Arrhythmia ORPHA:772
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Bradykinesia, EMG: myopathic ab... ORPHA:171442
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Paresthesia, Obesity, Laryngeal dystonia, Irritability, Anxiet... ORPHA:79444
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, A... ORPHA:42
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... ORPHA:1880
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Abnormal heart morph... ORPHA:70472
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Ataxia, Decreased activity of ... OMIM:614299
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Gait disturbance, Abnormal mitochondria in muscle tissue, Proximal muscle... ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Patent ductus arteriosus, Lethargy OMIM:617397
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Failure to thrive, Cardiomyopathy, Ataxia, D... ORPHA:2394
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
17Q24.2 Microdeletion Syndrome
Mood swings, Patent ductus arteriosus after birth at term, Failure to thrive in infancy, Prolonge... ORPHA:529962
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Facial diplegia, Brady... ORPHA:70
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Dystonia, Myopathy, Failure to thrive, Irritability, Flexion contrac... OMIM:618237
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure, Failure to thrive OMIM:615440
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased plasma carnitine OMIM:611283
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Failure to thrive OMIM:617228
Dpagt1-Cdg
Hepatomegaly, Intracranial hemorrhage, Prolonged QT interval, Failure to thrive, Aggressive behav... ORPHA:86309
Cap Myopathy
Abnormal muscle fiber morphology, Mitral valve prolapse, Lower limb amyotrophy, Generalized amyot... ORPHA:171881
Necrotizing Enterocolitis
Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy ORPHA:391673
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Subvalvular aortic stenosis, Hyperactivity, Obesity... OMIM:600430
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... ORPHA:276556
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Atrioventr... ORPHA:371428
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Glutamine Deficiency, Congenital
Bradycardia, Flexion contracture, Camptodactyly OMIM:610015
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Paresthe... ORPHA:358
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Mit... OMIM:229310
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Large for gestational age ORPHA:226313
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Pseudohypoparathyroidism Type 1A
Hypertension, Calcinosis, Prolonged QT interval, Paresthesia, Choreoathetosis, Obesity, Laryngeal... ORPHA:79443
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Ataxia, Myocardial necrosis, Irritability, Arrhythmia, Lethargy ORPHA:68
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Lethargy ORPHA:95716
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Small for gestation... OMIM:618775
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myopathy, Decreased plasma free carnitine, Ventricular hypertrophy, Cardiomyopathy,... ORPHA:228305
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Mitochondrial malic enzyme reduced, Abnormal echocardiogr... OMIM:601992
Wild Type Abeta2M Amyloidosis
Paresthesia, Macroglossia, Gastrointestinal hemorrhage, Congestive heart failure, Dysesthesia, Ab... ORPHA:85446
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Limb muscle weakness, Dysesthesia, Cardiomegaly, Cardiomyopathy, Ataxia, Conges... OMIM:619259
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
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
African Trypanosomiasis
Myocarditis, Impaired proprioception, Third degree atrioventricular block, Paresthesia, Apathy, S... ORPHA:3385
Tetanus
Hypertension, Opisthotonus, Bradycardia, Tachycardia, Tremor ORPHA:3299
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Weight loss, Tremor, Congestive heart failure, Panic attack, H... ORPHA:94080
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... ORPHA:276575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Ataxia, Atrial septal defect, ... OMIM:249270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex OMIM:614053
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Decreased activity of mitochondrial compl... OMIM:616501
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Irritability, De... ORPHA:159
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy OMIM:615352
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... ORPHA:276580
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Atrophoderma Vermiculata
Heart block ORPHA:79100
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... OMIM:619424
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Failure to thrive, Lethargy OMIM:618228
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Dystonia, Abnormal mitochondrial shape, Ragged-red muscle fibers, Sk... ORPHA:17
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... ORPHA:99104
Stiff-Person Syndrome
Hypertension, Opisthotonus, Agoraphobia, Asymmetric limb muscle stiffness, Proximal limb muscle s... OMIM:184850
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activit... OMIM:615418
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Ataxia, R... ORPHA:466650
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ca... OMIM:201475
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Slender build, Facial palsy, Arthrogryposis multipl... OMIM:161800
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... ORPHA:263494
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Gait disturbance, Hypertrophic cardiomyopathy, Ragged-red m... ORPHA:1349
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Truncal obesity, Arrhythmia, Camptodactyly of finger ORPHA:2928
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Arrhythmia OMIM:615084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Cardiomyopathy, Lethargy OMIM:500007
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dystonia, Hepatomegaly, Ataxia, Lethargy OMIM:246900
Spontaneous Periodic Hypothermia
Tremor, Gait disturbance, Ataxia, Arrhythmia ORPHA:29822
Adult-Onset Cervical Dystonia, Dyt23 Type
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Neck muscle hypertrophy, Head tremor, ... ORPHA:420492
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly OMIM:608540
Neuroleptic Malignant Syndrome
Hypertension, Chorea, Hypertensive crisis, Tachycardia, Bradycardia, Tremor, Pulmonary embolism, ... ORPHA:94093
Typhoid
Hepatomegaly, Epistaxis, Splenomegaly, Tremor, Ataxia, Gastrointestinal hemorrhage, Cardiac arres... ORPHA:99745
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Paresthesia, Atrial septal defect, Card... ORPHA:49827
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy... OMIM:602541
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Abnormal left ventricle morphology, Congestive heart failur... ORPHA:1055
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Dysmetria, Ataxia, Broad-based gait, Abnormal left ventricular function, Arrhythmia OMIM:618098
Atrioventricular Septal Defect 3
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... OMIM:600309
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Bradycardia, Loss of ability to walk, Tip-toe gait, Congenital foot contractures... ORPHA:565624
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhyth... ORPHA:156
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Gaucher Disease Type 2
Dystonia, Hepatomegaly, Splenomegaly, Cardiac arrest, Flexion contracture ORPHA:77260
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Hepatomegaly, Atrial fibrillation, Palpitations, Failure to thrive, Sp... ORPHA:525731
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Skeletal muscle atrophy OMIM:613402
Encephalitis Lethargica
Tremor, Upper limb muscle weakness, Bradycardia, Lethargy ORPHA:83600
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Hepatomegaly... ORPHA:85443
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block, Splenomegaly, Ataxia ORPHA:773
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Arrhythmia, Patent ductus arteriosus OMIM:617021
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Palpitations, Decreased activity of mitochondrial complex III, Increased intramyocellul... OMIM:255125
Juvenile Huntington Disease
Dystonia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia... ORPHA:248111
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Waddling gait, Broad-based gait, Increas... ORPHA:119
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... OMIM:224700
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Weight loss, Cardiomegaly,... ORPHA:465508
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Inability to walk OMIM:617184
Recessive Mitochondrial Ataxia Syndrome
Gait disturbance, Dysmetria, Positive Romberg sign, Limb dysmetria, Ataxia, Impaired vibratory se... ORPHA:94125
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... OMIM:609425
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Hemochromatosis, Type 4
Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Rheumatic Fever
Myocarditis, Gait disturbance, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis... ORPHA:3099
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Dysplastic aortic valve, Endocarditi... ORPHA:3093
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Failure to thrive OMIM:614096
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid ... ORPHA:746
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Dk1-Cdg
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Interstitial cardiac fibros... ORPHA:91131
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Hepatomegaly, Choreoathetosis, Failure to thrive, Cardiomyopathy, Splenomegaly, Lethargy ORPHA:79312
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Arrhythmia OMIM:616949
Alternating Hemiplegia Of Childhood
Dystonia, Abnormal T-wave, Cardiac conduction abnormality, Choreoathetosis, Chorea, Aggressive be... ORPHA:2131
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Waddling gait, Calf muscle hypertrophy, Flexion contracture ORPHA:98896
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Hepatomegaly, Small for gestational age, Palpitations, Tachycardia, Large for gestationa... ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Tachycardia, Increased body weight, Lethargy ORPHA:276608
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... ORPHA:500
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy OMIM:232400
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Failure to thrive, Bradycardia, Attention deficit hyperactivity disorder, Depressio... ORPHA:90674
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Dystonia, Skeletal muscle atrophy, Small for gestational age, Choreo... OMIM:615471
Leber Optic Atrophy
Postural tremor, Dystonia, Myopathy, Ataxia, Arrhythmia OMIM:535000
16P12.1P12.3 Triplication Syndrome
Skin-picking, Failure to thrive, Abnormal heart morphology, Abnormal tricuspid valve morphology, ... ORPHA:485405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Flexion contracture OMIM:614653
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Rhizomelic Chondrodysplasia Punctata, Type 5
Contractures of the large joints, Broad-based gait, Sinus tachycardia, Skeletal muscle atrophy OMIM:616716
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Gait... ORPHA:550
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Azoospermia, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive... OMIM:235200
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Weight loss, Telangiectasia of the skin, Cardiomyopathy, Bund... ORPHA:93672
Friedreich Ataxia
Impaired proprioception, Dystonia, Gait imbalance, Impaired visually enhanced vestibulo-ocular re... ORPHA:95
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Failure to thrive OMIM:618229
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Bohring-Opitz Syndrome
Happy demeanor, Facial hypotonia, Bradycardia, Cardiomegaly, Inability to walk, Severe failure to... ORPHA:97297
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Dystonia, Hepatomegaly, Mitral regurgitation, Left ventricular systolic d... OMIM:619167
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Decreased activity of mitochondrial complex I OMIM:619003
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Tachycardia, Loss of ability to walk, Emotional lability, Anxiety, Dep... ORPHA:79264
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Cardiomyopathy ORPHA:67048
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal aortic valve morphology, Congestive heart fai... ORPHA:1194
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Joint contracture of ... OMIM:300280
Peroxisome Biogenesis Disorder 9B
Ataxia, Cardiomyopathy OMIM:614879
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Small for gestational age, Failure to thrive, Congestive heart ... OMIM:609015
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular tachycardia, Failure to thrive, Cardiac arrest, Ventricular f... OMIM:300952
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis O