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Gene: Casq1 MGI:1309468

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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 circulating creatinine level Casq1tm1b(EUCOMM)Wtsi HOM Early adult 2.58×10-07
increased circulating total protein level Casq1tm1b(EUCOMM)Wtsi HOM Early adult 2.19×10-06
decreased grip strength Casq1tm1b(EUCOMM)Wtsi HOM Early adult 3.78×10-09

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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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
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... 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, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Percussion-induced rapid rolling muscle contractions, Muscle... OMIM:606072
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, E... ORPHA:684
Myotonia Congenita, Autosomal Dominant
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myot... OMIM:160800
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Skeletal muscle hypertrophy OMIM:600332
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Myotonia Congenita, Autosomal Recessive
Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Myotonia, Muscle hypertrophy of th... OMIM:255700
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy, Myotonia OMIM:158800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Brody Disease
Myotonia, Percussion myotonia, Flexion contracture, Skeletal muscle hypertrophy OMIM:601003
Paramyotonia Congenita Of Von Eulenburg
Percussion myotonia, Paradoxical myotonia, Handgrip myotonia, Skeletal muscle hypertrophy OMIM:168300
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Myotonia, Skeletal muscle atrophy, ... OMIM:310440
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Intrinsic hand muscle atrophy, Flexion contracture, Weakness of long finger extensor muscles, Cam... ORPHA:324442
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Myotonia, Potassium-Aggravated
Myotonia, Skeletal muscle hypertrophy OMIM:608390
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Percus... OMIM:619040
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Acetazolamide-Responsive Myotonia
Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Myotonia Fluctuans
Myotonia of the face, Myotonia with warm-up phenomenon, Spasticity of facial muscles, Myotonia of... ORPHA:99734
Richieri Costa-Da Silva Syndrome
Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness, Myotonia of the upper limb, Handgr... ORPHA:3101
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... ORPHA:598
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Distal Nebulin Myopathy
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... ORPHA:399103
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Myotonia Permanens
Myotonia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy ORPHA:99735
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Weakness of facial musculature, Handgrip myotonia, Sternocleidomasto... OMIM:602668
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Nemaline Myopathy 2
Slender build, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopath... OMIM:256030
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Gaisböck Syndrome
Hyperproteinemia, Anxiety, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia... ORPHA:90041
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Irritability, Hyponatremia OMIM:300539
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Thomsen And Becker Disease
Myotonia ORPHA:614
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... OMIM:500009
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle hypertrophy, Myotonia, Skeletal muscle atrophy, Myopathy ORPHA:682
Episodic Ataxia Type 1
Calf muscle hypertrophy, Myotonia ORPHA:37612
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Idiopathic Camptocormia
EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... ORPHA:1320
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Spastic Paraplegia 79, Autosomal Recessive
Myotonia, Flexion contracture OMIM:615491
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... OMIM:602771
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... OMIM:614399
Myotonic Dystrophy 1
Facial diplegia, Myotonia OMIM:160900
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:618276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... OMIM:618484
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Joint contracture of the hand, Skeletal muscle hypertrophy, Quadriceps muscle we... OMIM:255800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Failur... OMIM:619065
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... ORPHA:1145
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Flexion contracture, EMG: myopathic abnormalitie... ORPHA:171439
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Cerebral Creatine Deficiency Syndrome 2
Aggressive behavior, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... OMIM:612736
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Weight loss, Cachexia OMIM:613662
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Flexion contracture, Increa... OMIM:254090
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal amyotrophy, Ankle ... OMIM:617519
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... ORPHA:206559
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... OMIM:620011
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy OMIM:603034
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613327
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, L... OMIM:161800
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Limb joint ... OMIM:255310
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance OMIM:617336
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Hypoproteinemia OMIM:608093
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Right ventricular hypertrop... ORPHA:324604
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Failure to thrive, Rimmed vacuoles, Centrally nucleat... OMIM:619518
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... OMIM:181405
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Fo... ORPHA:329478
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Cap Myopathy
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... ORPHA:171881
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Schwartz-Jampel Syndrome
Hip contracture, Decreased body weight, Skeletal muscle hypertrophy, Cachexia, Wrist flexion cont... ORPHA:800
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Type 1 muscle fiber predominance, W... ORPHA:98913
Marinesco-Sjogren Syndrome
Failure to thrive, Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibe... OMIM:248800
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Failure to thrive, Joint contracture of the hand, Flexion contractur... ORPHA:536516
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Sk... OMIM:615418
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
King-Denborough Syndrome
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... OMIM:619542
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Facial pa... ORPHA:254886
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Small fo... OMIM:615368
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... OMIM:617258
Stuve-Wiedemann Syndrome 1
Camptodactyly, Flexion contracture of toe, Elbow flexion contracture, Contracture of the proximal... OMIM:601559
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... OMIM:616867
Omenn Syndrome
Hypoproteinemia OMIM:603554
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Handgrip myotonia ORPHA:438216
Dengue Fever
Hypoproteinemia ORPHA:99828
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Failure to thrive, Type 2 muscle fiber atrophy, Type 1 muscle fiber predominance... ORPHA:319514
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Leptospirosis
Hyperproteinemia ORPHA:509
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... OMIM:606070
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers ORPHA:352447
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... ORPHA:52430
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Cachexia, Foot dorsiflexor weakness, Ragged-red muscle fi... ORPHA:298
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Steinert Myotonic Dystrophy
Facial diplegia, Myotonia with warm-up phenomenon, Weakness of facial musculature, Pelvic girdle ... ORPHA:273
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Flexion contracture OMIM:619026
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
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, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Failure to thrive, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:619461
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Failure to thrive OMIM:606407
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... OMIM:619574
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Abnormal fear/anxiety-related behavior, Depression, Increased erythrocyte protoporphyrin ... ORPHA:100924
Juvenile Amyotrophic Lateral Sclerosis
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Ca... ORPHA:300605
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Depression, Anxiety, Elevated circulating creatinine concentration, Irritability ORPHA:247691
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
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
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fo... OMIM:164310
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Emotional lability OMIM:223900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... ORPHA:79083
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Decreased body weight, Macroglossia, Flexion contracture, Absent muscle fib... ORPHA:258
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Failure to thrive OMIM:613845
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... ORPHA:99845
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Lower limb muscle weakness, Increased intramyocellular lipid dr... ORPHA:79102
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 1 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
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, EMG: myopathic abnormalities, Calf muscle hypertrophy, Wrist flexion contr... OMIM:618733
Congenital Myasthenic Syndrome
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... ORPHA:98914
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Failure to thrive OMIM:124000
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Neutral Lipid Storage Myopathy
Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... ORPHA:98908
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Native American Myopathy
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... ORPHA:168572
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... ORPHA:98915
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Distal amyotrophy, Ragged-red muscle fibers, Weight loss OMIM:603041
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... ORPHA:85450
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypo... ORPHA:90038
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Overlap Myositis
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... ORPHA:206572
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Failure to thrive, EMG: myopathic abnormalities, Quadriceps muscle weakness, Lef... ORPHA:254892
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Flexion contracture of finger, Hypoplasia of the musculature,... ORPHA:2020
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Pierson Syndrome
Hypoproteinemia OMIM:609049
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... ORPHA:502423
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Wrist drop, Limb muscle weakness, Elbow flexi... ORPHA:1900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Flexion contracture, Increased variability in muscle fiber diameter, Increased... ORPHA:17
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... ORPHA:565612
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Melas
Ragged-red muscle fibers, Failure to thrive, Abnormal mitochondria in muscle tissue, Myopathy ORPHA:550
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Ragged-red muscle fibers, Failure to thrive, Skeletal ... OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Failure to thrive ORPHA:255210
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy OMIM:614557
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
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Choreoacanthocytosis
Muscle fiber atrophy, Distal amyotrophy, Peroneal muscle atrophy, Weight loss, Myopathy ORPHA:2388
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Singleton-Merten Syndrome 1
Decreased body weight, Muscle fiber atrophy, 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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