Gene Summary

Name:
caveolin 3
Synonyms:
M-caveolin,  Cav-3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Cav3em1(IMPC)KMPC HOM Late adult 8.10×10-05
absent liver Cav3em1(IMPC)KMPC HOM Late adult 0.00
abnormal ovary morphology Cav3em1(IMPC)KMPC HOM Late adult 0.00
increased circulating LDL cholesterol level Cav3em1(IMPC)KMPC HOM   Early adult 8.66×10-05
increased prepulse inhibition Cav3em1(IMPC)KMPC HOM Early adult 3.48×10-10
abnormal seminal vesicle morphology Cav3em1(IMPC)KMPC HOM Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Cav3 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 predicted to be associated to Cav3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Elev... OMIM:609200
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles, Hypertrophic c... OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Elevat... OMIM:604286
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Elevated circulating creat... OMIM:608810
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine kinase... ORPHA:34515
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Mildly elevated c... ORPHA:602
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Myopathy, Distal, 4
Mildly elevated creatine kinase, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy,... OMIM:614065
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kinase after exercise, Rimme... ORPHA:263494
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Elevated circulati... OMIM:300376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Ventricular hypertrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Elevated circ... OMIM:601287
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration, Limb... OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Elevated circulating creatine kinase concent... OMIM:612999
Myopathy, Distal, 5
Mildly elevated creatine kinase, Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Musc... OMIM:617030
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating creatine kinase concentra... OMIM:602541
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Elevated circulating creatine kinase concentration, Muscular dystrophy, Ventricular septal hypert... OMIM:612998
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Muscular dystrophy, Hypoglycosylation of alph... OMIM:615352
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Rim... ORPHA:603
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Elevated circulating creatine kinase concentration, Reduced sys... OMIM:616827
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Elevated circulating creatine kinase concentration, Rimmed vacuol... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Facial diplegia... ORPHA:399058
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Elevated circulating creatine... OMIM:300696
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:253601
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue, Elevated circula... OMIM:617072
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Myopathy, Fatty... OMIM:255100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia, Scapuloperoneal myopathy, Scapular winging, Flexion contracture, Lower limb muscle we... OMIM:300695
Myopathy, Distal, 1
Mildly elevated creatine kinase, Elevated circulating creatine kinase concentration, Type 1 muscl... OMIM:160500
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia, Scapular winging, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circu... OMIM:310095
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Glycogen Storage Disease Xiii
Increased muscle glycogen content, Elevated circulating creatine kinase concentration OMIM:612932
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:613204
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexion contracture, Shoulder gir... OMIM:609456
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Mildly elevated creatine kinase, Muscle fiber inclusion bodies, R... OMIM:615424
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Mildly elevated creatine kinase, Distal amyotro... OMIM:610099
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Mildly elevated creatine kinase, Fl... ORPHA:171442
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Elevated circulating... OMIM:611705
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:613818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine ... OMIM:609452
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber cytoplasm... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Highly elevated creatine kinase, ... OMIM:618848
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Myopathy, Reduced muscle carnitine level OMIM:212160
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Elevated circulating creatine kinase concentration, ... OMIM:300718
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Elevated c... OMIM:618940
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... OMIM:300580
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration ORPHA:154
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine... OMIM:610717
Welander Distal Myopathy
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, EMG: myopathic abnormalities, A... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Muscular dystro... OMIM:608807
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, E... OMIM:158810
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Muscular dystrop... ORPHA:267
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Miyoshi Muscular Dystrophy 3
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Muscular dystrophy, ... OMIM:613319
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Elevated circulating creatine kinase concentration, Myopat... OMIM:618129
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Muscular dystrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concen... OMIM:616516
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Muscular dystr... OMIM:613152
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... ORPHA:457050
Muscular dystrophy, limb-girdle, type 2R
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy OMIM:615325
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Mi... ORPHA:59135
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Calf muscle hy... ORPHA:119
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Rimmed vacuoles, Elevated circulating creatine kinase... ORPHA:270
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... ORPHA:1878
Central Core Disease
Abnormal circulating creatine kinase concentration, Central core regions in muscle fibers, Pelvic... ORPHA:597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst... OMIM:613156
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy OMIM:613752
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300717
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Pelvic girdle muscle weakness, Facial palsy, Scapulohumeral muscular dystrophy,... OMIM:158901
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... OMIM:613158
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Klhl9-Related Early-Onset Distal Myopathy
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Intrinsic hand ... ORPHA:399081
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Muscular Dystrophy, Congenital, Lmna-Related
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Flexion contra... OMIM:613205
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Abnormal circulating... ORPHA:217607
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Skel... OMIM:613723
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Mildly elevated... ORPHA:370980
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Myopathy OMIM:607091
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Limb-girdle muscular dyst... ORPHA:369840
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pseudohypertrophy,... ORPHA:62
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Atrial arrhythmia... OMIM:310300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:616094
Bethlem Myopathy 2
Elevated circulating creatine kinase concentration, Myopathy, Scapular winging, Flexion contracture OMIM:616471
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Elevated circulating creatin... OMIM:310200
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Combined Oxidative Phosphorylation Deficiency 30
Hyperalaninemia, Left ventricular hypertrophy OMIM:616974
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Distal amyotrophy, Elevated circulating creatine kinase co... OMIM:232400
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Myopathy, Skeletal muscle atrophy, Hypertroph... ORPHA:262
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Nemaline Myopathy 7
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy OMIM:610687
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Increased serum pyruvate, Ragged-red muscle fibers OMIM:545000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Decreased plasma free carnitine, Hepatomegaly, Congestive heart failure,... OMIM:619048
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Increased endo... OMIM:607855
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... OMIM:616812
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Facial palsy, Cardiomyopathy OMIM:201470
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613869
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Elevated circulating creatine kinase concentration, Muscular dystrophy, Hypoglycosylation of alph... OMIM:615350
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... ORPHA:178400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alph... OMIM:615351
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Myopathy, Skeletal muscle atrophy, Proximal a... OMIM:182920
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Foot dorsiflexor... ORPHA:263297
Immune-Mediated Necrotizing Myopathy
Palpitations, EMG: myopathic abnormalities, Scapular winging, Elevated circulating creatine kinas... ORPHA:206569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Muscular dystr... OMIM:613151
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:98855
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613157
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Retinal telang... OMIM:158900
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, Congest... ORPHA:324604
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Mildly elevated creatine kinase, Wea... ORPHA:399086
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... OMIM:611588
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction OMIM:615373
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Reduced muscle carnitine level, Endocardial fibroelas... OMIM:212140
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:98853
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... ORPHA:254864
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Elevated circulating creatine kinase concentration, Facia... ORPHA:254886
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... ORPHA:169186
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Hyperalaninemia, Skeletal muscle atrophy ORPHA:2597
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, General... ORPHA:352447
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Ele... OMIM:253600
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle p... ORPHA:280333
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Ethanolaminosis
Cardiomegaly OMIM:227150
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613154
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Mildly elevated creatine kinase, Generali... OMIM:258450
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614582
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elevated circulating creatine kinas... ORPHA:98863
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Left ventricular hypertrophy,... OMIM:616733
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
B4Galt1-Cdg
Myopathy ORPHA:79332
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Decreased plasma carnitine, Macroglossia, Increased muscle lip... OMIM:500009
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Sengers Syndrome
Myopathy, Hypertrophic cardiomyopathy OMIM:212350
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated ... OMIM:300842
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness in ... OMIM:619216
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... ORPHA:3208
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy ORPHA:366
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Abnormal left ventricular function, Elevated circula... OMIM:607155
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Rigid Spine Syndrome
Hamstring contractures, Cardiac conduction abnormality, Skeletal muscle atrophy, Hip contracture,... ORPHA:97244
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Mildly elevated creatine kinase... OMIM:161800
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Multiple joint contractures, Myopathy, Limb-girdle muscl... ORPHA:352470
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Splenomegaly, Left ventricular hypertroph... OMIM:205400
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,... ORPHA:98896
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Distal lower l... OMIM:609284
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Myasthenic Syndrome, Congenital, 14
Scapular winging, Mildly elevated creatine kinase, Flexion contracture, Ragged-red muscle fibers,... OMIM:616228
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Abnormal circulating lipi... OMIM:615980
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly OMIM:261750
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies, Cardiomyopathy OMIM:616549
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Hypokal... OMIM:615474
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Ventricular hypertrophy, Decreased plasma total carnitine, Rhabdomyolysis, Decreased ... ORPHA:228305
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Lower limb muscle weakness, Mitoch... ORPHA:397744
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Myopathy, Decreased muscle mass, Limb muscle weakness OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Abnormal mit... OMIM:302060
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture, Hypertrophic cardiomyopathy OMIM:618237
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Leber Hereditary Optic Neuropathy
Myopathy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy OMIM:615348
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Myopathy ORPHA:408
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Congestive heart failure, Generalized amyotrophy, Rimmed vacuoles, ... ORPHA:52430
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Myopathy, Skeletal muscle atrophy, Arterial r... ORPHA:300179
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Arrhythmia, Decreased muscle mass, Viral infection-induced rhabdomy... ORPHA:57
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Childhood-Onset Spasticity With Hyperglycinemia
Nonketotic hyperglycinemia, Left ventricular hypertrophy ORPHA:401866
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Sk... ORPHA:746
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Patent ductus a... OMIM:616867
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... ORPHA:972
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... OMIM:617070
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Camptodactyly, Patent ductus arteriosus, Hepatomegaly, Knee flexion contractu... OMIM:608799
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Elevated circulating creatine kinase concen... OMIM:609560
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Hepatomegaly, Congestive heart failure, Hy... ORPHA:367
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hyperuricemia, Hypertension, Hepatomega... ORPHA:79083
Familial Hyperprolactinemia
Female hypogonadism, Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis ORPHA:397685
Glycerol Kinase Deficiency
Myopathy, Hypertriglyceridemia, Muscular dystrophy OMIM:307030
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency OMIM:300604
Cap Myopathy
Abnormal muscle fiber morphology, Sinus tachycardia, Lower limb muscle weakness, Reduced systolic... ORPHA:171881
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy ORPHA:459033
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Abnorm... ORPHA:2348
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy OMIM:614321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated c... OMIM:310440
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration, Myopathy OMIM:254960
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Premature ovarian insufficiency, Hypoplasia of the ovary, Osteoscle... OMIM:609993
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexi... OMIM:254090
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase ORPHA:663
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Mi... ORPHA:1145
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-... ORPHA:1349
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Cardiomyopathy, Splenomegaly OMIM:608540
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Hypokalemia, Left ventricular hypertrophy, Prol... ORPHA:251274
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Arrhythmia, Decreased plasma total carnitine, Hepatomegaly, Distal arthrogryposis... ORPHA:42
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... ORPHA:2596
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Elevated circulating creatine kinase concentration, Muscle fiber... OMIM:607459
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Multiple joint ... OMIM:301830
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Muscular dystrophy, Hypermethioninemia, Abnormal... ORPHA:88618
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertrophy, Hypoglycosylation of al... ORPHA:370959
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Rhabdomyolysis, Highly elevated creatine kinase, Tachycardia, ... ORPHA:368
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis OMIM:261670
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Camptodactyly of toe, Marked muscular hypertrophy, Joint contracture of ... OMIM:300280
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Myopathy With Lactic Acidosis, Hereditary
Palpitations, Increased intramyocellular lipid droplets, Rhabdomyolysis, Elevated circulating cre... OMIM:255125
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction... ORPHA:90065
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness, Congenital muscular dystrophy OMIM:601170
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Mildly elevated cr... ORPHA:329478
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, EMG: myopathic abnormalities, Hyperammonemia, Cerebellar hemorrhage, ... ORPHA:99901
Sarcosinemia
Hypersarcosinemia, Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... ORPHA:559
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Arrhythmia, Macroglossia, Congenital muscular dystrophy, Muscular dyst... ORPHA:258
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Increased serum pyruva... OMIM:619355
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Right ventricular dilatation ORPHA:369847
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Arrhythmia, Azoospermia, Hepatomegaly, Congestive h... OMIM:602390
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Pelvic girdle m... ORPHA:254361
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Hypophosphatasia, Childhood
Myopathy, Elevated plasma pyrophosphate OMIM:241510
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Hand mu... ORPHA:98908
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypokalemia OMIM:170400
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatomegaly, Cong... OMIM:613313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615181
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Increased intra... ORPHA:98907
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Isobutyryl-Coa Dehydrogenase Deficiency