banner
Genes Phenotypes Help, News, Blog

Gene: mt-Co1 MGI:102504

Log in to follow
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
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Arrhyt... 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, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller ... OMIM:300580
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia OMIM:255100
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... ORPHA:171442
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... OMIM:601419
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... ORPHA:86812
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ... ORPHA:206569
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Childhood-Onset Nemaline Myopathy
Scapular winging, Polyhydramnios, Flexion contracture, Increased muscle lipid content, Generalize... ORPHA:171439
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Elbow flexio... ORPHA:97244
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Increased muscle lipid content, Myopathy OMIM:610717
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... ORPHA:399081
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Hypertrophi... OMIM:612954
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card... ORPHA:171433
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... OMIM:615352
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Central Core Disease
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... ORPHA:597
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy... ORPHA:1345
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Myopathy, Mitral regurgitati... OMIM:212140
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Nemaline Myopathy 8
Facial palsy, Polyhydramnios, Flexion contracture, Myofibrillar myopathy, Nemaline bodies OMIM:615348
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber p... OMIM:161800
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, 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
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congesti... ORPHA:367
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Joint contracture, Flexion contracture, Nonimmune hydrops fetalis OMIM:608540
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... OMIM:610687
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion OMIM:602248
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
American Trypanosomiasis
Skin rash, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhy... ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro... OMIM:615440
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios ORPHA:163596
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... OMIM:613155
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of f... ORPHA:352447
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Arterial rupture, Myopathy ORPHA:300179
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyopa... OMIM:232500
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy ORPHA:98896
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy, Cardiomyopathy ORPHA:1215
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... ORPHA:3099
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Cerebral ed... OMIM:617713
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nucleated skeletal muscle fibers... OMIM:255320
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... OMIM:208250
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Pedal edema, Pleural effusion, Hypotension, Arrhythmia, Pancreatitis, ... ORPHA:188
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Hemochromatosis, Type 2A
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arthritis, Arrhythmia OMIM:602390
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... OMIM:615418
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Pleural effusion, Juvenile rheumatoid ... ORPHA:85414
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Xerostomi... OMIM:617321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh... OMIM:609015
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Polyhydramnios, Thenar muscle atrophy, Fa... OMIM:256030
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... OMIM:301830
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... ORPHA:2848
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... ORPHA:98909
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Edema, Myocarditis, Xerost... ORPHA:81
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Malar rash OMIM:618097
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype... OMIM:604377
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Congenital Enterovirus Infection
Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Hep... ORPHA:292
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hypertension, Myopathy, Muscular dystrophy, Lower limb muscle weakness OMIM:615980
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Hec Syndrome
Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis ORPHA:2119
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Angina pectoris, Increased muscle lipid content, Abnormalit... ORPHA:565612
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... ORPHA:3287
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:300842
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ... ORPHA:397744
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities OMIM:620326
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... ORPHA:401768
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... ORPHA:183
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... ORPHA:1194
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Tendon... OMIM:186580
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointers... ORPHA:139402
Hurler-Scheie Syndrome
Cardiomyopathy, Rhinitis, Abnormal heart valve morphology ORPHA:93476
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... ORPHA:369840
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy ORPHA:2349
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... ORPHA:1349
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Spinal muscular atrophy, Recurrent pneumonia, Myopathy, Weakness of faci... ORPHA:254875
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Ascites OMIM:256550
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Lymphedema, Telangiectasia, Generalized amyotrophy, Hypertrophic card... ORPHA:79279
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154276
Noonan Syndrome 8
Ventricular septal defect, Eczema, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmon... OMIM:615355
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... ORPHA:330001
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Hepatitis, Joint swelling, Arthritis ORPHA:829
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo... ORPHA:521411
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... ORPHA:31205
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Osteoarthritis OMIM:606069
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Typical Nemaline Myopathy
Facial palsy, Polyhydramnios, Limb-girdle muscle weakness, Flexion contracture, Increased variabi... ORPHA:171436
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Chronic pan... ORPHA:98908
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Congenital Myopathy 16
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy, Polyhydramnios OMIM:614922
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis ORPHA:231111
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Bacterial Toxic-Shock Syndrome
Shock, Myositis, Tachycardia, Fasciitis, Sinusitis, Edema, Pneumonia, Osteomyelitis, Myocarditis,... ORPHA:36234
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy ORPHA:1876
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Acute pancreatitis, Abnormal cardiovascular system physiology, Car... ORPHA:79086
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth... OMIM:235200
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Pedal ed... ORPHA:3452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... ORPHA:746
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Carcinoid Syndrome
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ... ORPHA:100093
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Xerostomi... ORPHA:809
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis ORPHA:83317
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Pleural em... ORPHA:449280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Pancreatitis, Dehydration ORPHA:79312
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Osteoarthritis ORPHA:166002
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, D... ORPHA:254892
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Hemochromatosis, Type 3
Cardiomyopathy, Arthritis OMIM:604250
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased intramyocellular lipid... OMIM:255125
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Skin rash, Edema, Myocarditis, Congestive heart fa... ORPHA:2331
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Pancreatitis, Dehydration ORPHA:27
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dropl... ORPHA:98907
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Q Fever
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,... ORPHA:781
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Hypertension ORPHA:363400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... ORPHA:99939
Legionnaires Disease
Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infectious encephali... ORPHA:549
Spinocerebellar Ataxia With Epilepsy
Myopathy ORPHA:254881
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy OMIM:246900
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Pericarditis, Fasciitis, Skin rash, Periorbital edema, Orchitis, Peritonitis, Vasculiti... ORPHA:32960
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Facial palsy ORPHA:772
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Ascites, Edema OMIM:611719
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit... ORPHA:90291
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Panc... ORPHA:280365
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:886
Relapsing Polychondritis
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... ORPHA:728
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology ORPHA:70472
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema OMIM:611126
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Lujo Hemorrhagic Fever
Shock, Maculopapular exanthema, Skin rash, Facial edema, Myocarditis, Periorbital edema, Fulminan... ORPHA:319213
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function ORPHA:2394
Propionic Acidemia
Eczema, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Pancreatitis, Limb hypertonia OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Cardiomyopathy, Tubulointerstitial nephritis, Myopathy, Arrhythmia ORPHA:157
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Congestive heart failure, Pleural empyema, Constrictive pericard... ORPHA:67
Aicardi-Goutieres Syndrome 9
Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Edema, Pericardial effusion, H... OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture, Cerebral edema OMIM:614462
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... ORPHA:31824
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Polyhydramnios, Centrally nucleated skeletal muscle fibers OMIM:300219
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eczema, Recurrent pneum... OMIM:616651
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Uveitis, Dehydration, Ulcerative colitis, Ar... ORPHA:810
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Upper limb muscle weakness, Cardiomyopathy, Ab... ORPHA:892
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Tubulointerstitial nephritis, Pancreatitis OMIM:251000
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Polyhydramnios, Centrally nucleated skeletal muscle fibe... ORPHA:169189
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Pancreatitis OMIM:619386
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron... ORPHA:47612
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... ORPHA:221
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Raynaud phenomenon, Flexion contracture, Vasculitis, Uveitis,... ORPHA:90289
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Cystinosis
Myopathy, Portal hypertension, Dehydration ORPHA:213
Immunodeficiency 22
Pericarditis, Capillary leak, Panniculitis, Chronic oral candidiasis, Ascites OMIM:615758
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis... ORPHA:2552
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Polyhydramnios, Pulmonic stenosis, Edema OMIM:613224
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Oligohydramnios OMIM:619053
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyop... OMIM:620167
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, R... OMIM:201475
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... ORPHA:559
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... ORPHA:465508
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa OMIM:608068
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... ORPHA:247691
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Edema, Myoc... ORPHA:466677
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Immunodeficiency 9
Stomatitis, Myopathy, Recurrent aphthous stomatitis OMIM:612782
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... ORPHA:342
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Eczema, Recurrent pneumonia, Recurrent otitis media ORPHA:353298
Xanthinuria, Type I
Myopathy, Pyelonephritis OMIM:278300
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Joint swelling, Inflammat... ORPHA:29207
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Limb hypertonia, Generalized amyotrophy, Cardiomyopathy OMIM:617710
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy OMIM:619046
Noonan Syndrome 5
Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:611553
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Inflammatory abnormality of ... ORPHA:26793
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to ... OMIM:112250
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis OMIM:618835
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy ORPHA:369
Congenital Myopathy 9A
EMG: myopathic abnormalities, Oligohydramnios OMIM:618822
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Agel Amyloidosis
Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Keratoconjunctivitis sicca, Ar... ORPHA:85448
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Nephritis, Infectio... ORPHA:73263
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy ORPHA:544469
Axial Osteomalacia
Myopathy OMIM:109130
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... OMIM:230500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... ORPHA:308552
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Acute pancreatitis, Congestive heart failure, Rhabdomy... ORPHA:26791
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion ... OMIM:616503
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Rhabdomyo... ORPHA:533
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Hypert... OMIM:164310
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature ORPHA:98673
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Abnormal heart valve morphology, Recurrent skin infections, Abnormal heart... ORPHA:2953
Scleromyxedema
Raynaud phenomenon, Myopathy, Transient ischemic attack, Abnormal skeletal muscle morphology ORPHA:167635
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... OMIM:605275
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Cholecystitis, Oligohydramnios OMIM:615512
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Eczema, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy,... OMIM:615895
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Portal hypertension OMIM:619902
Immunodeficiency 10
Myopathy OMIM:612783
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Hyperten... ORPHA:1358
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... ORPHA:99827
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... ORPHA:1304
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Eczema, Congesti... ORPHA:506
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis ORPHA:713
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Chronic mucocutaneous candidiasis, Cardiomyopat... OMIM:242840
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Perianal abscess, Myopathy, Mitral regurgitation,... OMIM:612541
Refsum Disease
Heart block, Skeletal muscle atrophy, Cardiomyopathy ORPHA:773
Stormorken Syndrome
Myopathy, Epistaxis, Subarachnoid hemorrhage OMIM:185070
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... OMIM:212065
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Aplasia/Hypoplasia ... ORPHA:354
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... OMIM:616564
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Muscular dystrophy, Hydrops fetalis ORPHA:88618
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, My... ORPHA:109
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon... ORPHA:900
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... ORPHA:3071
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy ORPHA:3463
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Myopathy, Pneumonia ORPHA:169090
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatitis ORPHA:848
Nocardiosis
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymphadenitis... ORPHA:31204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Lower limb amyotrophy ORPHA:496790
Adrenomyodystrophy
Myopathy ORPHA:977
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm... ORPHA:397
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Myopathy, Tubulointerstitial nephritis, Hy... ORPHA:85450
Xp21 Deletion Syndrome
Calf muscle hypertrophy, Myopathy, Decreased muscle mass, Recurrent otitis media ORPHA:261476
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Polyhydramnios OMIM:618810
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Pleural effusion, Erysipelas OMIM:249100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Pseudoachondroplasia
Skeletal myopathy, Osteoarthritis ORPHA:750
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy ORPHA:1842
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Atrioventricular canal defect ORPHA:2549
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... ORPHA:90363
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage,... ORPHA:509
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pneumonia, Edema, Myocarditis, Hypertension, Pleural empyema, Septic arthritis, Pa... ORPHA:544482
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur... ORPHA:90340
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Polyhydramnios, Myopathy, Mitral regurgitation,... OMIM:614557
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities ORPHA:71
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... ORPHA:1320
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... OMIM:610733
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,... ORPHA:251071
Hereditary Xanthinuria
Myopathy, Rheumatoid arthritis, Gout ORPHA:3467
Hermansky-Pudlak Syndrome 1
Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Colitis OMIM:203300
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Vas... ORPHA:228123
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pul... ORPHA:70591
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:528
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy ORPHA:5
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Hydrops fetalis, Macroglos... OMIM:253220
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ... ORPHA:1900
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis,... OMIM:619745
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Cholecystitis, Muscle fiber splitting OMIM:611881
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber lysosomes, Car... ORPHA:365
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Vici Syndrome
Cardiomyopathy ORPHA:1493
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... ORPHA:536545
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Vasculitis, Chilblains OMIM:225750
Abetalipoproteinemia
Cardiomegaly, Congestive heart failure, Myopathy, Keratoconjunctivitis sicca, Distal lower limb m... ORPHA:14
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Myopathy, Polyhydramnios OMIM:618975
Hurler Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Macroglossia, Cardiomy... ORPHA:93473
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Pericardial effusion, Hematemesis, V... OMIM:615846
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Hurler Syndrome
Aortic regurgitation, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral regurgitation, En... OMIM:607014
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Hydrops fetalis, Aspiration pneumonia ORPHA:79255
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Polyhydramnios, Skeletal ... ORPHA:800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Tubulointerstitial nephritis, Abnormal myocardium morp... ORPHA:228308
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morphology,... ORPHA:579
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature ORPHA:31
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy ORPHA:95
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Facial hypotonia, Pneumonia, Macroglossia, Mitral regurgitation, Myopathy, ... ORPHA:309282
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities ORPHA:684
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Flexion contracture, Recurrent pneumonia, Macroglossia, Atrial septal d... OMIM:617303
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Hyp... ORPHA:99826
Congenital Myasthenic Syndrome
Polyhydramnios, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogrypo... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogrypo... ORPHA:98914
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
Kikuchi-Fujimoto Disease
Palpebral edema, Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, Pleural eff... ORPHA:50918
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va... OMIM:609942
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, A... ORPHA:2131
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Limb hypertonia ORPHA:572798
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Skeletal muscle steatosis ORPHA:436271
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Oligohydramnios OMIM:614052
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture ORPHA:371364
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral reg... OMIM:253200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Weakness of facial musculature, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro... OMIM:220110
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities ORPHA:480864
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Increased sarcoplasmic glycogen ORPHA:264580
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... ORPHA:502423
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Hereditary Spherocytosis
Restrictive cardiomyopathy, Maculopapular exanthema, Gout ORPHA:822
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy OMIM:616084
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
1P36 Deletion Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Telangiectasia,... ORPHA:1606
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... ORPHA:580
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Pannicul... ORPHA:508542
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Eczema, Polyhydramnios, Pulmonic stenosis, Atria... OMIM:607721
Microform Holoprosencephaly
EMG: myopathic abnormalities, Tetralogy of Fallot ORPHA:280200
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... ORPHA:217085
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal... OMIM:618733
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy, Chronic pancreatitis OMIM:307030
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... ORPHA:217093
Castleman Disease
Restrictive cardiomyopathy, Anasarca ORPHA:160
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Palpebral edema, Diastasis recti, Cardiomegaly, Congestive heart failure, R... OMIM:252500
Trichothiodystrophy
Congenital exfoliative erythroderma, Multiple joint contractures, Ventricular septal defect, Ecze... ORPHA:33364
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Lymphedema, Pulmonic stenosis, Atrial septal defect, Hypertrophi... ORPHA:1340
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... ORPHA:17
African Trypanosomiasis
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Second degree atrio... ORPHA:3385
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect ORPHA:769
Toriello-Carey Syndrome
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis ORPHA:3338
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Concentric hypertrophic cardiomyopathy, Increa... OMIM:252010
Stromme Syndrome
Myopathy OMIM:243605
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Oculoectodermal Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack, Lymphedema OMIM:600268
Choreoacanthocytosis
Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Distal amyotrophy, Arthritis, Muscle f... ORPHA:2388
Caribbean Parkinsonism
EMG: myopathic abnormalities, Orthostatic hypotension ORPHA:97355
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue ORPHA:2609
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cardiac conduction... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy OMIM:618329
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the abdomi... ORPHA:175
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:373
Tetrasomy 9P
Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Arthritis, Abnormal cardiac septum morp... ORPHA:3310
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis ORPHA:79430
Pearson Syndrome
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal ... ORPHA:699
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Ayme-Gripp Syndrome
Pericarditis, Camptodactyly OMIM:601088
Multiple Endocrine Neoplasia, Type Iib
Myopathy OMIM:162300
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Acute pancreatitis, Generalized muscular appearance from birth OMIM:608594
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Eczema, Intraventricular h... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Eczema, Intraventricular h... ORPHA:363958
Beckwith-Wiedemann Syndrome
Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly OMIM:130650
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop... ORPHA:90324
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Portal hypertension, Hypomimic face ORPHA:309854
Tyrosinemia, Type I
Melena, Hypertrophic cardiomyopathy, Ascites, Gastrointestinal hemorrhage OMIM:276700
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy, Dehydration OMIM:219800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology ORPHA:369837
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Hypertrophic cardiomyopathy OMIM:616539
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, Raynaud phenomenon, Arthritis, P... ORPHA:51
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contracture, Mitral ... OMIM:218040
Acromegaly
Palpebral edema, Acne, Osteoarthritis, Macroglossia, Hypertension, Mitral regurgitation, Joint sw... ORPHA:963
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Acute pancreatitis, Vent... OMIM:269700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial nephritis, Hypertrophic... OMIM:124000
Somatomammotropinoma
Palpebral edema, Osteoarthritis, Macroglossia, Hypertension, Mitral regurgitation, Joint swelling... ORPHA:314769
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... OMIM:220111
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, Synovitis, Chylothorax, Pulmonic stenosis, Atrial septal d... OMIM:163950
Neurodegeneration With Brain Iron Accumulation 1
Myopathy, Decreased muscle mass OMIM:234200
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... ORPHA:363700
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Po... OMIM:312870
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Flexion contracture, Myopathy ORPHA:3042
Zimmermann-Laband Syndrome 1
Cardiomyopathy OMIM:135500
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios,... ORPHA:116
Proteus Syndrome
Decreased muscle mass, Sudden cardiac death, Lymphedema, Pulmonary embolism, Myofibrillar myopathy ORPHA:744
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Facial palsy ORPHA:1328
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... ORPHA:79318
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... OMIM:607872
Leprechaunism
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:508
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... ORPHA:97685
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Aspirat... OMIM:216340
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Arrhyt... ORPHA:99845

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for mt-Co1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to mt-Co1.

No publications found that use IMPC mice or data for mt-Co1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter