Gene Summary

Name:
calsequestrin 1
Synonyms:
sCSQ,  CSQ,  CSQ1,  CSQ-1

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 circulating creatinine level Casq1tm1b(EUCOMM)Wtsi HOM Early adult 2.58×10-07
abnormal cholesterol homeostasis Casq1tm1b(EUCOMM)Wtsi HOM Early adult 2.40×10-06
abnormal freezing behavior Casq1tm1b(EUCOMM)Wtsi HOM Early adult 1.60×10-05
decreased grip strength Casq1tm1b(EUCOMM)Wtsi HOM Early adult 3.78×10-09
increased circulating total protein level Casq1tm1b(EUCOMM)Wtsi HOM Early adult 2.19×10-06

Download data as:  TSV  XLS

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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 Whole Body Lateral Orientation

10 Images

Human diseases caused by Casq1 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 Casq1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635

The table below shows human diseases predicted to be associated to Casq1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... ORPHA:34516
Myotonia Congenita, Autosomal Dominant
Myotonia, Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs... OMIM:160800
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Percussion-induced rapid rolling muscle contractions, Skelet... OMIM:606072
Paramyotonia Congenita Of Von Eulenburg
Myotonia, Myotonia of the upper limb, Percussion myotonia, Handgrip myotonia, Cold-sensitive myot... ORPHA:684
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, ... ORPHA:97240
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Skeletal muscle hypertrophy, Muscle mounding OMIM:600332
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Myotonia Congenita, Autosomal Recessive
Myotonia, Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy, Percussion my... OMIM:255700
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Muscular Dystrophy, Barnes Type
Myotonia, Muscular dystrophy, Myopathy OMIM:158800
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Paradoxical myotonia, Skeletal muscle hypertrophy, Percussion myotonia OMIM:168300
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myotonia, Myopathy, Skeletal muscle atrophy, Flexion con... OMIM:310440
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:137200
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Peroneal muscle atrophy, Myotonia, Weakness of the intrinsic hand muscles, Handgrip myotonia, Ach... ORPHA:324442
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Myotonia, Abse... ORPHA:98855
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, EMG: myotonic runs, Sca... ORPHA:353
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Myotonia, Abse... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Myotonia, Abse... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Myotonia, Abse... ORPHA:98853
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Myotonia, Potassium-Aggravated
Myotonia, Skeletal muscle hypertrophy OMIM:608390
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Acetazolamide-Responsive Myotonia
Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, EMG: myopathic abnormalities, Knee flexion contra... OMIM:619040
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Myotonia Fluctuans
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the lower limb, Spasticity of facial m... ORPHA:99734
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Myotonia of the upper limb, Skeletal muscle hypertrophy, Handgrip myotonia... ORPHA:3101
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Myopathy, Distal, 1
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... OMIM:160500
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Myotonia Permanens
Generalized muscle hypertrophy, Myotonia, Skeletal muscle hypertrophy ORPHA:99735
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:399058
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Rimmed vacuoles OMIM:300696
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... ORPHA:280333
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Irritability, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Myotonic Dystrophy 2
Myotonia, Type 2 muscle fiber atrophy OMIM:602668
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Myopathy, Myofibrillar, 2
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... OMIM:608810
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... OMIM:609285
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Thomsen And Becker Disease
Myotonia ORPHA:614
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Hyperkalemic Periodic Paralysis
Myotonia, Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Flexion contracture ORPHA:682
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Episodic Ataxia Type 1
Myotonia, Calf muscle hypertrophy ORPHA:37612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... ORPHA:171442
Idiopathic Camptocormia
Myotonia, Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal musc... ORPHA:1320
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... OMIM:616052
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathic abnormalities, M... ORPHA:424107
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Myasthenic Syndrome, Congenital, 14
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Spastic Paraplegia 79, Autosomal Recessive
Myotonia, Flexion contracture OMIM:615491
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles ORPHA:263494
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... OMIM:167320
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Schwartz-Jampel Syndrome, Type 1
Myotonia, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle... OMIM:255800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... OMIM:613818
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Myotonic Dystrophy 1
Facial diplegia, Myotonia OMIM:160900
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies OMIM:605637
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... OMIM:618484
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Myoclonus-Dystonia Syndrome
Panic attack, Anxiety, Depression, Personality disorder ORPHA:36899
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in... OMIM:619065
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Myopathy, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... ORPHA:352479
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content OMIM:611556
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... ORPHA:254864
Salih Myopathy
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... OMIM:611705
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... ORPHA:597
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... OMIM:617519
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... ORPHA:353327
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers ORPHA:663
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Classic Multiminicore Myopathy
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Fa... ORPHA:324604
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:603034
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Limb-gi... ORPHA:206559
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Nemaline Myopathy 3
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... OMIM:161800
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Stuve-Wiedemann Syndrome 1
Myotonia, Flexion contracture of toe, Knee flexion contracture, Contracture of the proximal inter... OMIM:601559
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro... OMIM:608931
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy ORPHA:369840
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy OMIM:617066
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... OMIM:255200
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Schwartz-Jampel Syndrome
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... ORPHA:800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... ORPHA:57
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... OMIM:252011
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... ORPHA:171881
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... OMIM:615418
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Flexion contracture, Centr... OMIM:248800
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lipodystrophy, Congenital Generalized, Type 4
Skeletal muscle hypertrophy, Muscle mounding, Failure to thrive, Muscular dystrophy, Flexion cont... OMIM:613327
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... ORPHA:98913
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Muscle fiber atrophy, Sca... ORPHA:254886
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers OMIM:614924
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Muscle fiber atrophy, Centr... OMIM:619542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... OMIM:616812
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:608930
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Small for gestational age, Flexion contracture, Conge... OMIM:615368
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... ORPHA:206569
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... OMIM:617258
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... OMIM:258450
Omenn Syndrome
Hypoproteinemia OMIM:603554
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... ORPHA:169189
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Handgrip myotonia ORPHA:438216
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Dengue Fever
Hypoproteinemia ORPHA:99828
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... ORPHA:119
Leptospirosis
Hyperproteinemia ORPHA:509
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... OMIM:616867
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of facial musculature ORPHA:352447
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... ORPHA:397744
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Type 2 muscle fiber atrophy, Hip contracture, Failure to thrive, Lower... ORPHA:319514
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Slender build, Distal amyotrophy OMIM:603041
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diameter OMIM:619334
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... ORPHA:52430
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Distal lower limb amyotrophy, Interosseus muscle atrophy, Thenar muscle atro... OMIM:500013
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Foot dorsiflexor weakness... ORPHA:298
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Steinert Myotonic Dystrophy
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Myotonia of the upper limb, Weakness of f... ORPHA:273
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexi... ORPHA:171430
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Irritability, Abnormal aggressive, i... ORPHA:3077
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... ORPHA:600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa... OMIM:157640
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... OMIM:619461
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Typical Nemaline Myopathy
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... ORPHA:171436
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal fear/anxiety-related behavior, Apathy, Anxiety, Increased erythrocyte prot... ORPHA:100924
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... OMIM:619574
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diaphragmatic e... OMIM:616866
Spastic Ataxia 5, Autosomal Recessive
Increased intramyocellular lipid droplets, Skeletal muscle atrophy OMIM:614487
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Apathy, Irritability, Anxiety, Depression ORPHA:247691
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Myopathy, Skeletal muscle atrophy, Failure to thrive, Abnormal muscle glycogen content, Flexion c... ORPHA:367
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysis, Skeletal muscle atrophy, Increas... ORPHA:368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Cachexia, Skeletal muscle atrophy, Contractures of... ORPHA:300605
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Upper limb ... ORPHA:263297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Increased intramyocellular lipid droplets, Rhabdomyolysis OMIM:255125
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Pierson Syndrome
Hypoproteinemia OMIM:609049
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... ORPHA:79083
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Weight loss, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, In... OMIM:164310
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis ORPHA:449285
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy OMIM:159400
Glycogen Storage Disease Vii
Increased muscle glycogen content OMIM:232800
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Weight loss, Increased intramyocellular lipid droplets, Obesity... ORPHA:79102
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Abnormality of jaw... ORPHA:99845
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Type 2 muscle fiber atrophy OMIM:613845
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Congenital muscular dystrophy,... ORPHA:258
Neutral Lipid Storage Myopathy
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... ORPHA:98908
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Congenital Myasthenic Syndrome
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... ORPHA:98914
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... OMIM:618733
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... ORPHA:168572
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... ORPHA:98915
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased HDL cholesterol concentration, Decreased... ORPHA:85450
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG: myopathic abnorma... ORPHA:502423
Overlap Myositis
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... ORPHA:206572
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:220110
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Autosomal Dominant Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Failure to thrive, Fac... ORPHA:254892
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Pelvic girdle muscle weakness, Hip contracture, Weakness of facial mus... ORPHA:2020
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... ORPHA:565612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ragged-red muscle fibers, Skeletal muscle atrophy, Failure to thrive, Increased intramyocellular ... ORPHA:17
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased muscle lipid content, Knee flexion contracture, Elbow flexion contracture OMIM:608836
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Wrist drop, Limb muscle weakness, EMG: myopathic abnormalities, Muscle fib... ORPHA:1900
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Shoulder girdl... ORPHA:98907
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Congenital Ptosis
Increased muscle lipid content, Congenital facial diplegia, Congenital fibrosis of extraocular mu... ORPHA:91411
Melas
Failure to thrive, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy ORPHA:550
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Fai... OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Ragged-red muscle fibers ORPHA:255210
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
Choreoacanthocytosis
Peroneal muscle atrophy, Myopathy, Weight loss, Muscle fiber atrophy, Distal amyotrophy ORPHA:2388
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Decreased body weight, Tendon rupture OMIM:182250

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 Casq1

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 Casq1.

No publications found that use IMPC mice or data for Casq1.

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MGI Allele Allele Type Produced
Casq1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Casq1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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