Gene: Col6a3 MGI:88461

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Gene Summary

Name:
collagen, type VI, alpha 3
Synonyms:
Col6a-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 body length Col6a3em1(IMPC)Tcp HOM Early adult 1.60×10-05
decreased grip strength Col6a3em1(IMPC)Tcp HOM Early adult 2.78×10-06

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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 Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

94 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Col6a3 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 Col6a3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col6a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Myopathy, Reduced muscle carnitine level OMIM:212160
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
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, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Salih Myopathy
Mitochondrial depletion, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial ... OMIM:611705
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, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Skel... OMIM:300695
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
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
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Mitochondrial swelling, Myopathy, Fatty... ORPHA:397744
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Decrease... OMIM:500002
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy, Decreased activity of mitochondrial respiratory chain OMIM:613076
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... OMIM:158810
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Decreased activity of mitochondrial complex III, Fiber type grouping,... OMIM:500013
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
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
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Decreased activity of mitochondrial complex IV, Increased intramyocellular lipid droplets, Weakne... OMIM:619062
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture OMIM:616471
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Nemaline Myopathy 7
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy OMIM:610687
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
B4Galt1-Cdg
Myopathy ORPHA:79332
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399081
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
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
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Failure to thrive OMIM:618246
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... OMIM:619024
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bod... ORPHA:399103
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... ORPHA:254864
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Distal lower l... OMIM:609284
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy OMIM:615348
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Limb-girdle muscle weakness, Multiple joint contractures, Decreased mitochondrial number ORPHA:352470
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Carpal Tunnel Syndrome
Digital flexor tenosynovitis OMIM:115430
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... ORPHA:280333
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Decreased activity of mitochondrial complex IV, Increased intramyocellular lipid droplets, Increa... OMIM:619065
Myopathy, Spheroid Body
Myopathy, Skeletal muscle atrophy, Proximal amyotrophy OMIM:182920
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Rigid Spine Syndrome
Hamstring contractures, Skeletal muscle atrophy, Hip contracture, Myopathy, Elbow flexion contrac... ORPHA:97244
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
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Myopathy With Lactic Acidosis, Hereditary
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex III, Decre... OMIM:255125
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy OMIM:608807
Leber Hereditary Optic Neuropathy
Mitochondrial respiratory chain defects, Myopathy ORPHA:104
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Myopathy, Decreased muscle mass, Limb muscle weakness OMIM:603034
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Multiple joint ... OMIM:301830
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy ORPHA:91130
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... OMIM:500009
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... ORPHA:169186
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Congenital muscular dystrophy, Muscular dystrophy, Facial palsy OMIM:602541
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Failure to thrive, Facial palsy OMIM:201470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... OMIM:609560
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... ORPHA:2596
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Spastic Paraplegia Type 7
Lower limb muscle weakness, Lower limb hypertonia, Abnormal mitochondrial morphology, Ragged-red ... ORPHA:99013
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Limb-girdle mus... ORPHA:370980
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:616794
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Flexion contracture, Cachexia, Skeletal muscle atrophy ORPHA:157973
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive OMIM:618234
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, In... ORPHA:1145
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex III, Flexi... ORPHA:17
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Decre... ORPHA:352447
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Barth Syndrome
Skeletal myopathy, Abnormal mitochondrial morphology OMIM:302060
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, Hypotrophy of the small ha... OMIM:607684
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy ORPHA:262
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Decreased m... ORPHA:263297
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies OMIM:616549
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... ORPHA:254886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Failure to thrive ORPHA:26792
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Achilles tendon contracture, Distal ... ORPHA:254361
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Slender build, Congenital muscular dystrophy, Flexion contracture, Ty... OMIM:254090
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... ORPHA:477774
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture, Failure to thrive OMIM:618237
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Sengers Syndrome
Myopathy OMIM:212350
Adrenomyodystrophy
Myopathy OMIM:300270
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... OMIM:161800
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Failure to thrive in infancy, Skeletal muscle atrophy, Myopathy, Weaknes... ORPHA:254875
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex II, Flexio... OMIM:252011
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Left ventricular hypertrophy, Knee f... OMIM:619040
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Facial pa... OMIM:608931
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Myopathy, Reduced muscle carnitine level OMIM:212140
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:614924
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Distal amyotrophy, Lower limb muscle weakness, Upper limb muscle we... ORPHA:99939
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
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
Axial Osteomalacia
Myopathy OMIM:109130
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Hip flexor weakness, Weakness of the intrinsic hand muscles, Abnorm... ORPHA:98913
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
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy OMIM:608930
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy, Small for gestational age OMIM:307030
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... ORPHA:171881
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Myopathy, Skeletal muscle atrophy ORPHA:189439
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Fatty replacement of skele... ORPHA:52430
Oculogastrointestinal Muscular Dystrophy
Myopathy, Cachexia, Skeletal muscle atrophy ORPHA:1876
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy OMIM:617713
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Increased variability in muscle fiber diameter OMIM:619026
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Adrenomyodystrophy
Myopathy, Failure to thrive ORPHA:977
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Immunodeficiency 9
Myopathy, Failure to thrive OMIM:612782
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:85329
Xanthinuria, Type I
Myopathy OMIM:278300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma free carnitine, Myopathy, Rhabdomyolysis, Decreased plasma total carnitine ORPHA:228305
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Distal arthrogryposis, Decreased plasma total carnitine, Skeletal muscle atrophy ORPHA:42
Carey-Fineman-Ziter Syndrome
Flexion contracture, Pectoralis hypoplasia, Facial palsy, Skeletal muscle atrophy, Failure to thr... OMIM:254940
Immunodeficiency 10
Myopathy OMIM:612783
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Hip contrac... ORPHA:319514
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness ORPHA:1215
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy OMIM:601419
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Failure to thrive, Skeletal muscle atrophy... ORPHA:367
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis ORPHA:713
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Mcleod Syndrome
Myopathy, Rhabdomyolysis OMIM:300842
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:682
Leber Optic Atrophy
Myopathy OMIM:535000
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Obesity OMIM:618822
Marinesco-Sjögren Syndrome
Myopathy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal mus... ORPHA:559
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Skeletal muscle atrophy ORPHA:330050
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy, Failure to thrive ORPHA:71
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Combined Oxidative Phosphorylation Deficiency 24
Myopathy, Facial palsy, Skeletal muscle atrophy OMIM:616239
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... ORPHA:168572
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Isolated Succinate-Coq Reductase Deficiency
Lower limb hypertonia, Weight loss, Skeletal myopathy, Distal amyotrophy, Left ventricular hypert... ORPHA:3208
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Weight loss, Autophagic vacuoles, Distal amyotrophy, Facial palsy, ... OMIM:164310
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, EMG: myopathic abnormalities, Decreased activity of mitochondrial com... ORPHA:99901
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy ORPHA:363400
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Myopathy, Limb-girdle muscle weakness, Limb muscle weakness, Skeletal muscle atrophy OMIM:112250
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Autosomal Dominant Optic Atrophy, Classic Form
Myopathy, Scapular winging, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:98673
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Rhabdomyolysis, Small for gestational age, Failure to thrive OMIM:609015
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Myopathy, Increased intramyocellul... ORPHA:98907
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:98915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Shoulder girdle muscle weak... ORPHA:600
Glycogen Storage Disease Xii
Myopathy OMIM:611881
Caribbean Parkinsonism
EMG: myopathic abnormalities ORPHA:97355
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Stormorken Syndrome
Myopathy OMIM:185070
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Distal amyotrophy, Cachexia, Ragged-red muscle fibers OMIM:603041
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Scleromyxedema
Hypoperistalsis, Myopathy, Abnormal skeletal muscle morphology ORPHA:167635
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Increased ... OMIM:613150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Abnormality of the mitochondrion, ... ORPHA:298
Lethal Congenital Contracture Syndrome 9
Myopathy, Abnormality of the diaphragm, Congenital contracture OMIM:616503
Combined Oxidative Phosphorylation Deficiency 11
Myopathy OMIM:614922
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... ORPHA:368
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Macroglossia OMIM:261740
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Cystinosis
Myopathy, Failure to thrive ORPHA:213
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Myopathy, Rhabdomyolysis, Decreased plasma total carnitine ORPHA:157
Primary Lipodystrophy
Skeletal muscle hypertrophy, Myopathy ORPHA:90970
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Carcinoid Syndrome
Myopathy ORPHA:100093
Xp21 Deletion Syndrome
Calf muscle hypertrophy, Myopathy, Decreased muscle mass ORPHA:261476
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Wrist flexion contracture, Muscle fiber necrosis, Knee flexion cont... OMIM:618733
Danon Disease
EMG: myopathic abnormalities, Generalized amyotrophy, Myocardial necrosis OMIM:300257
Glycogen Storage Disease Vii
Increased muscle glycogen content OMIM:232800
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Ragged-red muscle fibers, Abnormality of the mitoch... ORPHA:254892
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Carey-Fineman-Ziter Syndrome
Myopathy, Facial palsy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy ORPHA:1358
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Leigh Syndrome
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... ORPHA:506
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Triosephosphate Isomerase Deficiency
Myopathy, Skeletal muscle atrophy OMIM:615512
Cushing Disease
Truncal obesity, Myopathy, Failure to thrive ORPHA:96253
Hereditary Xanthinuria
Myopathy ORPHA:3467
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Distal amyotrophy, Cachexia, Skeletal muscle atrop... ORPHA:300605
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Myopathy, Skeletal muscle atrophy OMIM:614557
Localized Scleroderma
Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:90289
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Failure to thrive in infancy, Skeletal myopathy, Left... ORPHA:746
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Myopathy, Diaphragmatic eventration, Failure to thrive in infancy, Distal arthrogryposis OMIM:618975
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
EMG: myopathic abnormalities, Cachexia, Knee flexion contracture, Hip contracture, Elbow flexion ... ORPHA:371364
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Distal lower limb muscle weakne... ORPHA:98914
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masse... ORPHA:423
Usher Syndrome
Myopathy ORPHA:886
Vici Syndrome
Myopathy, Left ventricular hypertrophy, Failure to thrive OMIM:242840
Multiple Endocrine Neoplasia, Type Iib
Myopathy, Failure to thrive in infancy OMIM:162300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Proximal upper limb muscle hypertrophy, Myopathy, Muscle hypertrophy of the lower extremities, Sk... ORPHA:280365
Melas
Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Musculocontractural Ehlers-Danlos Syndrome
Myopathy, Arthrogryposis multiplex congenita, Decreased muscle mass ORPHA:2953
Polymyositis
Abnormal muscle fiber morphology, Weight loss ORPHA:732
Scleroderma
Myopathy, Flexion contracture, Facial palsy ORPHA:801
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Skeletal muscle hypertrophy, Flexion contracture of toe, Decr... ORPHA:800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Increased muscle lipid content, Decreased plasma free carnitine... OMIM:608836
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Bannayan-Riley-Ruvalcaba Syndrome
Myopathy, Cachexia, Skeletal muscle atrophy ORPHA:109
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... ORPHA:258
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Myopathy, Flexion contracture ORPHA:3042
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Decreased muscle mass, Elbow flexion contracture, Limb ... ORPHA:1900
Stromme Syndrome
Myopathy OMIM:243605
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion, Camptodactyly, Joint contracture of the hand OMIM:214110
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Failure to thrive OMIM:124000
Wolfram Syndrome
Myopathy ORPHA:3463
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Failure to thrive ORPHA:14
Bannayan-Riley-Ruvalcaba syndrome
Myopathy OMIM:153480
Alpha-Mannosidosis, Infantile Form
Macroglossia, Myopathy, Facial hypotonia ORPHA:309282
Cystinosis, Nephropathic
Decreased plasma carnitine, Myopathy, Skeletal muscle atrophy OMIM:219800
Neurodegeneration With Brain Iron Accumulation 1
Myopathy, Decreased muscle mass OMIM:234200
Kyphoscoliotic Ehlers-Danlos Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:536545
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, EMG: myopathic abnormalities ORPHA:480864
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Choreoacanthocytosis
Peroneal muscle atrophy, Weight loss, Distal amyotrophy, Myopathy, Muscle fiber atrophy ORPHA:2388
1P36 Deletion Syndrome
Camptodactyly of finger, Myopathy, Failure to thrive, Obesity ORPHA:1606
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Failure to thrive ORPHA:255210
Dermatomyositis
Weight loss, Inflammatory myopathy ORPHA:221
Williams Syndrome
Macroglossia, Myopathy, Failure to thrive in infancy, Obesity ORPHA:904
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy OMIM:182250
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass, Cachexia ORPHA:744
Dystonia 27
OMIM:616411
Primary Dystonia, Dyt27 Type
ORPHA:464440

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 Col6a3

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 Col6a3.

No publications found that use IMPC mice or data for Col6a3.

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MGI Allele Allele Type Produced
Col6a3em1(IMPC)Tcp Intra-exon deletion Mice
Col6a3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Col6a3em1(IMPC)KMPC Exon Deletion Mice

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