Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Synonyms:
OTTMUSG00000005786,  LOC380698

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 Obscn 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Cardiomyopathy, Ventricular tachycardia, Sudden cardiac death OMIM:612124
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:208100
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Scapuloperoneal Myopathy, X-Linked Dominant
Foot dorsiflexor weakness, Flexion contracture, Scapular winging, Skeletal muscle atrophy, Lower ... OMIM:300695
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Myopathy, Distal, 4
Skeletal muscle atrophy, Abnormality of the calf musculature, Myopathy, Distal upper limb amyotro... OMIM:614065
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Dilatation of the ventricular cavity, Effort-induced polymorphi... OMIM:600996
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Bethlem Myopathy 1
Skeletal muscle atrophy, Limb-girdle muscle weakness, Ankle flexion contracture, Myopathy, Tortic... OMIM:158810
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Variegate Porphyria
Tachycardia OMIM:176200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Nathalie Syndrome
Arrhythmia ORPHA:2663
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Cardiomy... OMIM:212138
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Ventricular arrhythmia, Syncope, Palp... OMIM:609040
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Sh... OMIM:611307
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Klhl9-Related Early-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Intrinsic hand muscle at... ORPHA:399081
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy OMIM:616471
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Foot dorsiflexor weakness, Flexio... OMIM:619216
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Skeletal muscle atrophy OMIM:608807
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Dextrocardia, Mitral stenosis, Ventricular ... ORPHA:1686
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture OMIM:618323
Myopathy, Spheroid Body
Myopathy, Proximal amyotrophy, Skeletal muscle atrophy OMIM:182920
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:616313
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy OMIM:615511
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Flexion contracture, Myofibrillar myopathy OMIM:615348
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Weakness of f... OMIM:610687
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, High-output congestive heart failure, Premature ventricular contraction,... ORPHA:423
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Myopathy, Distal ... OMIM:167320
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Myopathy, Increased muscle glycogen content, Increased mu... ORPHA:254864
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Decreased muscle mass, Myopathy, Limb muscle weakness OMIM:603034
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Myopathy, Central... ORPHA:597
Rigid Spine Syndrome
Skeletal muscle atrophy, Myopathy, Hip contracture, Hamstring contractures, Elbow flexion contrac... ORPHA:97244
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Scapular w... OMIM:616052
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Muscular dystrophy, Myopathy, Congenital muscular dystrophy OMIM:602541
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy, Ventricular hypertrophy OMIM:613690
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations ORPHA:276556
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Ogden Syndrome
Torsade de pointes, Arrhythmia, Premature ventricular contraction, Atrial septal defect, Ventricu... OMIM:300855
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... OMIM:619518
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Abnormal atrioventricular valve physiology, Elevated jugu... ORPHA:1329
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Centrally nucleated skel... OMIM:248800
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Alcohol-induced rhabdomy... OMIM:154275
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Hypertension, Ventricular septal defect OMIM:613870
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations ORPHA:276575
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Hip ... ORPHA:169186
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations ORPHA:276580
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Tachycardia OMIM:615821
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Myopathy, Arthrogryposis multiplex congenita, F... OMIM:301830
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia ORPHA:159
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Alcohol-induced rhabdomy... OMIM:154276
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Myopathy, Multiple joint contractures ORPHA:352470
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Torsade de pointes, Ventricular tachycardia, Hypertroph... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Wolff-Parkinson-White syndrome OMIM:614947
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Facial palsy, Myopathy, Flexion contracture OMIM:201470
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture OMIM:615368
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Muscle fiber atrophy ORPHA:369840
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Rimmed vacuoles, Calf muscle hypertrophy ORPHA:263494
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Decrease... ORPHA:57
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Tachycardia, Palpitations ORPHA:324575
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Adrenomyodystrophy
Myopathy OMIM:300270
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave OMIM:170390
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy ORPHA:262
Scorpion Envenomation
Premature ventricular contraction, Arrhythmia, Congestive heart failure, T-wave inversion, Cardio... ORPHA:466677
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, EMG: myopathic abnormalities, Type... ORPHA:171433
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Triceps weakness, Foot dorsiflexor weakness, Centrally nucleated s... OMIM:619574
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Snakebite Envenomation
Cardiogenic shock, Hypotension, Myocardial infarction, Cerebral ischemia, Tachycardia, Intracrani... ORPHA:449285
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Wolff-Parkinson-White s... OMIM:540000
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:157973
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Hand muscle weakness, Myopathy, Facial palsy, Scapular winging, Muscle ... ORPHA:254886
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Impe... ORPHA:1880
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Flexion contracture, Arthrogryposis mu... ORPHA:178148
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left heart, He... ORPHA:3426
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Myopathy, Campt... ORPHA:272
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Sengers Syndrome
Myopathy OMIM:212350
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy OMIM:300653
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Calf mus... OMIM:253700
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Tachycardia ORPHA:79264
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Axial Osteomalacia
Myopathy OMIM:109130
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Facial palsy, EMG: myopathic abnormalities, Congenital muscular dystrophy, Limb muscle weakness OMIM:601170
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Myopathy, Skeletal muscle atrophy OMIM:615980
Myopathy With Lactic Acidosis, Hereditary
Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets OMIM:255125
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy ORPHA:26792
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Tachycardia ORPHA:542323
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Myopathy, Weakness of facial musculature ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy OMIM:619048
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy,... OMIM:607459
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper limbs, Abnorm... ORPHA:98913
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Upper limb muscle we... ORPHA:99939
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Limb muscle weakness, Type 1 muscle fiber predomin... OMIM:161800
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Typical Nemaline Myopathy
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Limb-girdle muscle weakness, Inc... ORPHA:171436
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies OMIM:616549
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Spinal muscular atrophy, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:254875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Congenital muscular dystrophy, Shoulder girdle muscle atrophy, EMG: ... OMIM:606612
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture OMIM:618237
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Abnormal tricuspid valve morphology, Partial atrioventricula... ORPHA:1330
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia ORPHA:485405
Marshall-Smith Syndrome
Premature ventricular contraction, Atrial septal defect, Dysplastic aortic valve, Pulmonary arter... OMIM:602535
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Art... OMIM:616867
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Tularemia
Tachycardia ORPHA:3392
Xanthinuria, Type I