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Gene: mt-Co1 MGI:102504

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mitochondrially encoded cytochrome c oxidase I
Synonyms:
COX1,  COI,  CCOI,  mt-Co1-201,  CoxI,  COX 1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 mt-Co1 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 mt-Co1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy
Arrhythmia, Myopathy, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Melas
Pulmonary arterial hypertension, Recurrent pancreatitis, Concentric hypertrophic cardiomyopathy, ... ORPHA:550
Genetic Recurrent Myoglobinuria
Lower limb muscle weakness, Abnormality of jaw muscles, Viral infection-induced rhabdomyolysis, M... ORPHA:99845

The table below shows human diseases predicted to be associated to mt-Co1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Myopathy, Distal, 4
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... OMIM:614065
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Scapuloperoneal myopathy, myh7-related
Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities OMIM:181430
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... OMIM:611880
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myop... OMIM:300580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... ORPHA:63273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Increased variability in muscle fiber diameter, Fatty replacement of skeletal ... OMIM:301075
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 28
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... OMIM:619402
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... OMIM:608358
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... OMIM:612937
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... ORPHA:98912
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal... ORPHA:98911
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,... OMIM:609452
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... ORPHA:611
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... OMIM:605820
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... OMIM:611615
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy OMIM:602541
Nemaline Myopathy 6
Skeletal muscle atrophy, Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... OMIM:619566
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Atrial Standstill 1
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... OMIM:108770
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy OMIM:618236
Bethlem Myopathy 1
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... OMIM:158810
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Congestive heart failure, Muscle fiber necrosis, Myositis, EMG: my... ORPHA:206569
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Polyhydramnios, Flexion contracture, EMG: myopath... ORPHA:171439
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy OMIM:609308
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Rigid Spine Syndrome
Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Cardiac conduction... ORPHA:97244
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy, Cardiomyopathy OMIM:610717
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Oligohydramnios, Myopathy, Cardiomegaly, Cardiomyopathy OMIM:617713
Leber Hereditary Optic Neuropathy
Arrhythmia, Myopathy, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... OMIM:300695
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy OMIM:212350
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... OMIM:500002
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... OMIM:255160
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Klhl9-Related Early-Onset Distal Myopathy
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Weakness of the intrinsic h... ORPHA:399081
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency ORPHA:295
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure OMIM:618234
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... ORPHA:563
Glycogen Storage Disease Iii
Ventricular hypertrophy, Myopathy, Distal amyotrophy, Cardiomyopathy OMIM:232400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, T-wave inversion, Vent... ORPHA:263297
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... OMIM:619903
Intermediate Nemaline Myopathy
Polyhydramnios, Flexion contracture, Facial palsy, EMG: myopathic abnormalities, Facial diplegia,... ORPHA:171433
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... OMIM:612954
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... OMIM:615352
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Distal lower limb m... OMIM:619216
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... ORPHA:424107
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree... OMIM:617336
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Central Core Disease
Multiple joint contractures, Mitral valve prolapse, Central core regions in muscle fibers, Type 1... ORPHA:597
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... ORPHA:437572
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... OMIM:261740
Multiminicore Myopathy
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... ORPHA:598
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... ORPHA:206546
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy ORPHA:1878
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Congenital Gerbode Defect
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent... ORPHA:99095
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98855
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Muscle fiber atrophy, Optic neuritis, Myopathy, Scapular winging, Ragged-red musc... ORPHA:254886
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Nemaline Myopathy 8
Polyhydramnios, Flexion contracture, Nemaline bodies, Myofibrillar myopathy, Facial palsy OMIM:615348
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98853
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Ascites, Pulmonic stenosis,... OMIM:619433
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... OMIM:212140
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Dilated cardiomyopa... OMIM:616827
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... ORPHA:263494
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ... OMIM:167320
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... OMIM:300718
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Myopathy, spheroid body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy OMIM:182920
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath... ORPHA:272
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Congenital Myopathy 2A, Typical, Autosomal Dominant
Polyhydramnios, Dilated cardiomyopathy, EMG: myopathic abnormalities, Type 1 muscle fiber predomi... OMIM:161800
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98863
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia ORPHA:157973
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, No... ORPHA:367
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... OMIM:600858
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Joint contracture, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:608540
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Nemaline Myopathy 7
Knee flexion contracture, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, ... OMIM:610687
American Trypanosomiasis
Skin rash, Congestive heart failure, Periorbital edema, Edema, Arrhythmia, Infectious encephaliti... ORPHA:3386
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Muscu... ORPHA:300751
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy OMIM:616549
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... ORPHA:276435
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Intrauterine growth ret... OMIM:615440
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... ORPHA:329478
Congenital Myopathy 4B, Autosomal Recessive
Flexion contracture, Distal lower limb amyotrophy, EMG: myopathic abnormalities, Facial diplegia,... OMIM:609284
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... ORPHA:75249
Nemaline Myopathy 5
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... OMIM:605355
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... OMIM:613155
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 muscle fiber atrophy, L... OMIM:603034
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth... ORPHA:352447
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy, Dehydration ORPHA:79159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... OMIM:611307
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Edema, Skeletal muscle atrophy, Portal hypertension, Ascites, Ar... OMIM:232500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Arterial rupture, Myopathy, Skeletal muscle atrophy ORPHA:300179
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy ORPHA:53296
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... OMIM:615156
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Wrist flexion contracture, Constrictive pericarditis, Congenital finger flexion contractures, Art... OMIM:208250
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy, Cardiomyopathy ORPHA:1215
Rheumatic Fever
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... ORPHA:3099
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities OMIM:609283
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy OMIM:613752
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Systemic Capillary Leak Syndrome
Hypotension, Pedal edema, Pulmonary edema, Pericarditis, Pleural effusion, Arrhythmia, Myocarditi... ORPHA:188
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, Centrally nuclea... OMIM:255320
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Lower limb hype... ORPHA:1177
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... OMIM:310440
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... OMIM:620135
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Hemochromatosis, Type 2A
Arthritis, Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy OMIM:602390
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy ORPHA:98896
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... OMIM:615422
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Cerebral edema, Dilated cardiomyopathy, Congestive h... ORPHA:99901
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Myopathy, Multiple joint contractures ORPHA:352470
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy ORPHA:85447
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... OMIM:123320
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... OMIM:603689
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... ORPHA:353327
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Abnormal atrioventricular conduction, Skeletal myopathy, Left ventricul... ORPHA:3208
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Arrhythmia, Cardiomyopathy ORPHA:228305
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... OMIM:160150
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... OMIM:607598
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia ORPHA:324588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616276
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Joint swelling, Anterio... ORPHA:85414
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle lipid content, Increased muscle glycogen content, Ragged... ORPHA:254864
Polymyositis
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Arthritis, Abnormal muscl... ORPHA:732
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Skin rash, Arthritis, Keratoconjun... OMIM:617321
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Primary Lipodystrophy
Angina pectoris, Congestive heart failure, Hypertension, Myopathy, Skeletal muscle hypertrophy, P... ORPHA:90970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, Myopathy, Arrh... OMIM:609015
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Myopathy, Arthrogrypos... OMIM:301830
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Malar rash, Arthritis OMIM:609939
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... ORPHA:57
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... OMIM:252011
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Malar rash, Dilated cardiomyopathy OMIM:618097
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Mitral valve prolapse, Camptodactyly of toe, Pericarditis, Mitral regurg... ORPHA:2848
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myofiber disarray, Increased variability in muscle fiber diameter, Cardiac arrest, Hypertrophic c... OMIM:604377
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Skin rash, Hepatitis, Pleural... ORPHA:292
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy ORPHA:767
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Hypertension, Myopathy, Skeletal muscle atrophy OMIM:615980
Antisynthetase Syndrome
Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis sicca, Myositis, Edema, Aortic r... ORPHA:81
Hec Syndrome
Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis ORPHA:2119
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Skeletal myopathy, Inflammatory abnormality of the skin, Abnormality of... ORPHA:565612
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... OMIM:610099
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Weakness of facial musculature, Skeletal muscle atrophy, Limb muscle weakness, Ab... ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618228
Congenital Muscular Dystrophy Without Intellectual Disability
Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Achilles tendon contracture,... ORPHA:370980
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Takayasu Arteritis
Pulmonary arterial hypertension, Cerebral ischemia, Arthritis, Inflammatory abnormality of the ey... ORPHA:3287
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Abnor... OMIM:310200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... OMIM:616866
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Scleroderma
Flexion contracture, Fasciitis, Pericarditis, Facial palsy, Osteomyelitis, Transient ischemic att... ORPHA:801
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertrophic cardiomyopathy,... ORPHA:2348
Thymic Tumor
Pericarditis, Edema, Palpebral edema, Cardiac arrest ORPHA:100100
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertension, Hypertrophic c... ORPHA:79083
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... ORPHA:397744
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Calf muscle hypertr... ORPHA:254361
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Mcleod Syndrome
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy OMIM:300842
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Weakness of facial musculature, Cardiomyopathy OMIM:201470
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... ORPHA:1194
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Tubulointerstitial nephritis, Transient ischemic a... ORPHA:183
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... OMIM:154275
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy OMIM:619492
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Hurler-Scheie Syndrome
Rhinitis, Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Blau Syndrome
Camptodactyly of finger, Erythema nodosum, Iritis, Arthritis, Synovitis, Hypertension, Eczema, Te... OMIM:186580
Systemic Lupus Erythematosus
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis OMIM:152700
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Arrhythmia, Cardiomegaly ORPHA:42
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Myopathy, Macroglossia ORPHA:2349
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Barth Syndrome
Endocardial fibroelastosis, Skeletal myopathy, Dilated cardiomyopathy, Increased left ventricular... OMIM:302060
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Right ventric... ORPHA:369840
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Infectious encephalitis, Hepatitis, Cardiac arrest, Skin rash, Thyr... ORPHA:139402
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia, Generalized amyotrophy, Lymphedema, Hypertrophic cardiomyopathy, Telangiectasia o... ORPHA:79279
Neuraminidase Deficiency
Hydrops fetalis, Skeletal muscle atrophy, Cardiomegaly, Ascites, Facial edema, Cardiomyopathy OMIM:256550
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... OMIM:154276
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragg... ORPHA:1349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Limb muscle weakness, Bradycardia, Arrhythmia, Ragged-red muscle fi... OMIM:609286
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Weakness of facial musculature, Recurrent pneumonia, Myopathy, Skeletal ... ORPHA:254875
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Noonan Syndrome 8
Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy, Eczema, Atrial septal de... OMIM:615355
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Pulmonary edema, Abnormal EKG,... ORPHA:330001
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Noncompaction cardiomyop... OMIM:610198
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Pericarditis, Joint swelling, Myocarditis ORPHA:829
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Collagenoma, Familial Cutaneous
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... OMIM:115250
Hemochromatosis, Type 4
Arrhythmia, Osteoarthritis, Cardiomyopathy OMIM:606069
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy OMIM:616896
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Generalized limb muscle atrophy, Facial diplegia, Foot dorsiflexor we... ORPHA:521411
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Ventricular septal defect, Muscle fiber atrophy, Type... OMIM:619542
Rat-Bite Fever
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ... ORPHA:31205
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... ORPHA:52430
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Myopathy, Right ventricular dilatation ORPHA:369847
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Congenital Myopathy 16
Scapular winging, Flexion contracture, EMG: myopathic abnormalities OMIM:618524
Tropical Endomyocardial Fibrosis
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... ORPHA:75565
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:602771
Drug-Induced Lupus Erythematosus
Malar rash, Pericardial effusion, Pericarditis, Serositis, Prolonged QTc interval ORPHA:231111
Refsum Disease, Classic
Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Acquired Generalized Lipodystrophy
Hypertension, Calf muscle pseudohypertrophy, Myopathy, Acute pancreatitis, Panniculitis, Abnormal... ORPHA:79086
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ... OMIM:615959
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Abnormal mitral valve morphology ORPHA:1876
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy OMIM:249270
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... OMIM:212138
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:618499
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Osteomyelitis, Hepatitis, Skin rash, Fasciitis, Arthritis, Periton... ORPHA:36234
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Chronic pancreatitis, Shoulder girdle muscle weakness, Incr... ORPHA:98908
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis OMIM:615382
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Pleural effusion, Arrhythmia, Cardiomegaly, Ascites, Ca... OMIM:235200
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... ORPHA:464343
Amish Nemaline Myopathy
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... ORPHA:98902
Whipple Disease
Hypotension, Pedal edema, Arthritis, Uveitis, Pericarditis, Myositis, Myocardial infarction, Gast... ORPHA:3452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Cardiomyopathy, Muscle fiber atrophy, Generalized... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cardiomyopathy OMIM:614922
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... ORPHA:1145
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis OMIM:615511
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... ORPHA:486815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... OMIM:608840
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Mitochondrial Trifunctional Protein Deficiency
Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Tricuspid regurgitation, Left vent... ORPHA:746
Carcinoid Syndrome
Facial telangiectasia, Heart murmur, Myopathy, Palpitations, Right ventricular failure, Tricuspid... ORPHA:100093
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Scrub Typhus
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... OMIM:600996
Microscopic Polyangiitis
Episcleritis, Skin rash, Arthritis, Congestive heart failure, Uveitis, Pericarditis, Epistaxis, S... ORPHA:727
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl... OMIM:615084
Scedosporiosis
Endocarditis, Septic arthritis, Osteomyelitis, Pleural empyema, Pericarditis, Sinusitis, Pneumoni... ORPHA:449280
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericarditis, ... ORPHA:809
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Osteoarthritis ORPHA:166002
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Pancreatitis, Cardiomyopathy ORPHA:79312
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Arthrogryposis mu... ORPHA:178148
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia OMIM:606703
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Shoulder girdle muscle weakne... ORPHA:254892
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... ORPHA:88630
Postsynaptic Congenital Myasthenic Syndromes
Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps weakness, We... ORPHA:98913
Hemochromatosis, Type 3
Arthritis, Cardiomyopathy OMIM:604250
Hyperkalemic Periodic Paralysis
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Skeletal muscle... ORPHA:682
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, ... OMIM:609560
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... OMIM:255125
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Neutral Lipid Storage Disease With Ichthyosis
Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Myopathy, Shoulder girdl... ORPHA:98907
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... ORPHA:444013
Myopathy, Centronuclear, 2
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... OMIM:255200
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Bronchiectasis, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Rig... OMIM:619705
Juvenile Dermatomyositis
Mucosal telangiectasiae, Calcinosis, Bundle branch block, Telangiectasia of the skin, Vasculitis,... ORPHA:93672
Vitamin B12-Unresponsive Methylmalonic Acidemia