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Gene: Cav2 MGI:107571

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Gene Summary

Name:
caveolin 2
Synonyms:
N/A

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
increased circulating alanine transaminase level Cav2em1(IMPC)Kmpc HOM Early adult 1.19×10-06
abnormal eye morphology Cav2em1(IMPC)Kmpc HOM Early adult 0.00
increased circulating total protein level Cav2em1(IMPC)Kmpc HOM Early adult 6.77×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Human diseases caused by Cav2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cav2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... OMIM:619477
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myalgia, Inflammatory myopathy, Skele... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Cervical Cancer
Neoplasm, Cervix cancer OMIM:603956
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... OMIM:158600
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Distal Myopathy With Anterior Tibial Onset
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... ORPHA:178400
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Exe... OMIM:500002
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Exercise intolerance, Ragged-red muscle fibers, Facial p... OMIM:616209
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Weakness of facial musculature, Exercise intolerance, ... ORPHA:457050
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Myalgia, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar m... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Back pain, Achilles tendon contracture, EMG: myop... OMIM:300696
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Skeletal muscle atrophy, Exercise intolerance, Limb muscle weakness OMIM:609273
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... ORPHA:276435
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... OMIM:613157
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Exercise intolerance, Ragged-red muscle fibers, EMG: myopathic abnormalities OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Tuberculosis
Abnormal lung morphology, Fatigue ORPHA:3389
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300717
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... OMIM:620068
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Myopathy, Centronuclear, 4
Myalgia, Exercise intolerance, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pr... OMIM:614807
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr... ORPHA:254361
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy ORPHA:1878
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl... OMIM:123320
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... OMIM:612937
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... OMIM:254130
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... OMIM:603689
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Recurrent respiratory infections, Type 1 fibers relat... ORPHA:596
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... OMIM:300559
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... OMIM:620138
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy ORPHA:309169
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... OMIM:160150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617069
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... ORPHA:424107
Multiminicore Myopathy
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... ORPHA:598
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Hip pain, Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyot... OMIM:167320
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... OMIM:608358
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... OMIM:617114
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Pul... OMIM:616867
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Chest pain, Rimmed va... ORPHA:263494
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Ragged-red muscle fibers, Fatigue OMIM:616794
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Nemaline Myopathy 4
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... OMIM:614302
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Pulmonary hypoplasia OMIM:614096
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... OMIM:613530
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... ORPHA:171439
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema OMIM:130700
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... OMIM:610099
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Muscle fiber necrosis, Myositis, EMG: myopathic abnor... ORPHA:206569
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... ORPHA:486815
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Bronchopulmonary Dysplasia
Pulmonary sequestration, Emphysema, Exercise intolerance, Abnormal lung morphology, Right ventric... ORPHA:70589
Nemaline Myopathy 5
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... OMIM:605355
Bronchogenic Cyst
Back pain, Abnormal pleura morphology, Pulmonary cyst, Abdominal pain, Pneumonia, Abnormality of ... ORPHA:2357
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Skelet... OMIM:620011
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... OMIM:619903
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... OMIM:310440
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... OMIM:616726
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu... OMIM:500009
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Limb-girdle muscle weakness, Macroglossia, Myalgia, Calf muscle pseudohypertrophy, Skeletal muscl... ORPHA:352479
Distal Myotilinopathy
Distal amyotrophy, Abnormal muscle fiber myotilin, Multiple joint contractures, EMG: myopathic ab... ORPHA:98911
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Generalized amyotrophy, Recurrent infections due to aspiration, Type 1 muscle fiber atrophy, Type... OMIM:617519
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:602771
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Bronchiectasis OMIM:615294
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... OMIM:616470
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... OMIM:254090
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles OMIM:609452
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... OMIM:615422
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Central Core Disease
Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... ORPHA:597
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Combined Oxidative Phosphorylation Deficiency 49
Myalgia, Exercise intolerance, Ragged-red muscle fibers OMIM:619024
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture OMIM:607855
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Neuronopathy, Distal Hereditary Motor, Type X
Bronchiectasis, Tendon rupture, Distal lower limb muscle weakness, Scapular winging, Fiber type g... OMIM:620080
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... ORPHA:353327
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... ORPHA:79126
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... ORPHA:1145
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Back pain, Fatty replacement of skeletal muscle, Bowel incontinence, Weakne... ORPHA:329478
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent respiratory infections, Atele... OMIM:615067
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Amish Nemaline Myopathy
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... ORPHA:98902
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle lipid content, Increased muscle glycogen content, Ragged... ORPHA:254864
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... OMIM:616866
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 muscle fiber atrophy, L... OMIM:603034
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Myalgia,... OMIM:615418
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Emphysema, Pleural effu... OMIM:612387
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Centrally nucleated ... OMIM:255310
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Recurrent lower respiratory t... OMIM:617258
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... ORPHA:119
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, ... OMIM:609560
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Weakness of facial musculature, Exercise-induced myalgia, Ragged-red muscle fibers, Rhabdomyolysis OMIM:618416
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Halitosis, Emphysema, Chest pain, Recurrent lower re... ORPHA:60033
Intermediate Nemaline Myopathy
Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies, Type 1 muscl... ORPHA:171433
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Facial palsy OMIM:617336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized amyotrophy, EMG... OMIM:258450
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... OMIM:255160
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... ORPHA:98855
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Lower limb pain, Myalgia, Exercise intolerance, Chest pain, Ragged-red muscle fibers, Fatigue ORPHA:1349
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... ORPHA:57
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
Polymyositis
Abnormal pulmonary interstitial morphology, Abnormal muscle fiber morphology, Abdominal pain, Art... ORPHA:732
Autosomal Recessive Progressive External Ophthalmoplegia
Muscle fiber atrophy, Facial palsy, Myopathy, Exercise intolerance, Scapular winging, Ragged-red ... ORPHA:254886
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscle atrophy, Type 2 muscle fib... OMIM:601462
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... ORPHA:171881
Dengue Fever
Hypoproteinemia ORPHA:99828
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers, Atelectasis OMIM:300219
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... ORPHA:397744
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Chest tightness, Subpleural honeycombing, Lung adenoc... ORPHA:2302
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Hip pain, Fatty replacement of skeletal muscle, G... ORPHA:52430
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... OMIM:252011
Tracheobronchopathia Osteochondroplastica
Bronchitis, Recurrent respiratory infections, Chest tightness, Recurrent pneumonia, Pneumonia, Ch... ORPHA:3348
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Pain ORPHA:477774
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Leptospirosis
Hyperproteinemia ORPHA:509
Spastic Paraplegia Type 7
Lower limb pain, Lower limb muscle weakness, Upper limb muscle weakness, Ragged-red muscle fibers... ORPHA:99013
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... ORPHA:98863
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... OMIM:181405
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... ORPHA:98853
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Exercise intolerance, Recurrent lower respiratory... OMIM:616720
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Centrally nucleated skeletal muscle fibers, Abnormality of the foot muscula... ORPHA:169189
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Arthrogryposis mu... ORPHA:178148
Postsynaptic Congenital Myasthenic Syndromes
Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps weakness, We... ORPHA:98913
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Exercise intolerance, Proximal amyotrophy, Ragged-red muscle fibers, Faci... OMIM:615084
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... ORPHA:324604
Severe Congenital Nemaline Myopathy
Flexion contracture, Pulmonary hypoplasia, Type 1 muscle fiber predominance, Facial diplegia, Nem... ORPHA:171430
Myopathy, Centronuclear, 2
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... OMIM:255200
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Emphysema, Chest... ORPHA:79127
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type 1 muscle fiber predominanc... OMIM:619542
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal pain, Ragged-red muscle fibers OMIM:613662
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Emphysema ORPHA:122
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers OMIM:540000
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers ORPHA:663
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Myalgia, EMG: myopathic abnormalities, Exercise intolerance, Limb muscl... OMIM:609286
Familial Partial Lipodystrophy, Dunnigan Type
Myalgia, Myopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy ORPHA:2348
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... OMIM:255125
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Pulmonary edema ORPHA:70587
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myalgia, Calf muscle pseudohypertrophy, Myopathy, Skel... ORPHA:79083
Idiopathic Chronic Eosinophilic Pneumonia
Night sweats, Asthenia, Arthralgia, Pleural effusion, Hypersensitivity pneumonitis, Atelectasis ORPHA:2902
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Emphysema OMIM:604571
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Myalgia, Exercise intolerance, Increased muscle lipid conte... ORPHA:228302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Lower limb muscle weakness, Myalgia, Exercise intolerance, Skeletal muscle atrophy, Ragged-red mu... OMIM:616479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Rhabdomyolysis, Muscle fiber necrosis, EMG: myopa... OMIM:157640
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Myopathy, Centronuclear, 5
Weakness of facial musculature, Hip contracture, Centrally nucleated skeletal muscle fibers OMIM:615959
Omenn Syndrome
Hypoproteinemia OMIM:603554
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... ORPHA:169186
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Weakness of facial musculature, Myopathy, Exercise intolerance, Ragged-re... ORPHA:352447
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper limb amyotroph... ORPHA:600
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... OMIM:619518
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Abnormal lung mor... ORPHA:60032
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis ORPHA:896
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:613327
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Overlap Myositis
Abnormal pulmonary interstitial morphology, Perifascicular muscle fiber atrophy, Limb pain, Const... ORPHA:206572
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... OMIM:612949
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Night sweats, Triceps weakness, Intrinsic hand muscle... OMIM:619574
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Myopathy, Skeletal muscle atroph... OMIM:248800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myalgia, Myopathy, Limb-girdle muscular dystrophy ORPHA:369840
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... OMIM:619461
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... OMIM:607459
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Congenital muscular dystrophy, Mac... ORPHA:258
Meconium Aspiration Syndrome
Aspiration pneumonia, Pneumothorax, Atelectasis ORPHA:70588
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Torticollis, Macroglossia, Pulmonary hypoplasia OMIM:617022
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Chylothorax, Type 2 muscle fiber a... OMIM:619036
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower lim... OMIM:500013
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy ORPHA:3068
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy OMIM:604377
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Cystic pattern on pulmonary HRCT, El... OMIM:610978
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, EMG: m... ORPHA:502423
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia ORPHA:167
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abdominal pain, Foot dorsiflexor weakness, Abnormality of the extraocular ... ORPHA:298
Primary Ciliary Dyskinesia
Respiratory tract infection, Bronchiectasis, Peribronchovascular interstitial thickening, Recurre... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Weakness of facial musculature, Myopathy, Ragged-red muscle fibers OMIM:616239
Native American Myopathy
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Skeletal muscle a... ORPHA:168572
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Exercise intolerance, Ragged-red muscle fibers, Generalized limb muscle atrophy OMIM:600462
Snakebite Envenomation
Pain, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting, Arthralgia OMIM:606408
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture OMIM:615368
Myopathy, Mitochondrial, And Ataxia
Myalgia, Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Urinary incontinence, Muscle fiber atrophy, Skeletal m... ORPHA:300605
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Lung adenocarcinoma, Emphysema OMIM:618913
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Flexion contracture, Lower limb muscle weakness, Glycogen accumulati... ORPHA:365
Farber Disease
Flexion contracture, Nodular pattern on pulmonary HRCT, Arthralgia, Recurrent upper respiratory t... ORPHA:333
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Danon Disease
Generalized amyotrophy, EMG: myopathic abnormalities, Myocardial necrosis, Exercise intolerance, ... OMIM:300257
Lymphangioleiomyomatosis
Pneumothorax, Recurrent respiratory infections, Abdominal pain, Emphysema, Chylothorax, Chest pai... ORPHA:538
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Recurrent respiratory infections, EMG: myopath... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Recurrent respiratory infections, EMG: myopath... ORPHA:98914
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Fatigue, Ragged-red muscle fibers OMIM:607426
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Recurrent respiratory infections, Emphysema OMIM:219100
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Autophagic vacuoles, EMG: myopathic abnormalities... OMIM:164310
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Posterolater... OMIM:613177
Genetic Recurrent Myoglobinuria
Lower limb muscle weakness, Abnormality of jaw muscles, Viral infection-induced rhabdomyolysis, M... ORPHA:99845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Macroglossia, Skeletal muscle... OMIM:613150
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter OMIM:616538
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Increased in... ORPHA:17
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Flexion contracture, Hip contracture, Aspiration pneumonia, Elbow flexi... ORPHA:2020
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy OMIM:611881
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... OMIM:619991
Pierson Syndrome
Hypoproteinemia OMIM:609049
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent bronchopulmonary infections, Bronchiectasis, Emphysema OMIM:242700
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Atelectasis ORPHA:2314
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, Increased intramyocellular... ORPHA:98908
Autosomal Dominant Progressive External Ophthalmoplegia
Shoulder girdle muscle weakness, Left ventricular hypertrophy, Hypomimic face, EMG: myopathic abn... ORPHA:254892
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Elbow flexion contracture, EMG: myopathi... ORPHA:1900
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy OMIM:159400
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Recurrent upper respiratory tra... ORPHA:51636
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Lujo Hemorrhagic Fever
Rigors, Abdominal cramps, Myalgia, Chest pain, Atelectasis ORPHA:319213
Primary Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Abnormality of the calf musculature, Abnormality of the shoulder girdle muscul... ORPHA:565612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:613154
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Repeated pneumothoraces, Torticollis, Pulmonary hypoplasia, Atelectasis ORPHA:536467
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Abdominal pain, Abdominal cramps, Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Common Variable Immunodeficiency
Recurrent respiratory infections, Bronchiectasis, Recurrent bronchitis, Arthralgia, Emphysema, Pn... ORPHA:1572
Zygomycosis
Acute infectious pneumonia, Pneumothorax, Abdominal pain, Pain, Pleural effusion, Chest pain, Ate... ORPHA:73263
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lowe... ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Atelectasis OMIM:269860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis OMIM:618278
Melas
Abnormal mitochondria in muscle tissue, Myopathy, Ragged-red muscle fibers, Exercise intolerance ORPHA:550
Granulomatous Disease, Chronic, X-Linked
Pleural effusion, Recurrent pneumonia, Atelectasis OMIM:306400
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Exercise intolerance, Ragged-red muscle fibers, Increased intramyocellul... OMIM:252010
Chand Syndrome
Atelectasis ORPHA:1401
Relapsing Polychondritis
Atelectasis, Gangrene, Arthralgia ORPHA:728
22Q11.2 Deletion Syndrome
Bowel incontinence, Abnormal lung lobation, Atelectasis, Myalgia ORPHA:567
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis ORPHA:534
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers ORPHA:255210
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Exercise intolerance, Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Singleton-Merten Syndrome 1
Pleural effusion, Recurrent respiratory infections, Muscle fiber atrophy, Tendon rupture OMIM:182250
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis OMIM:188400
Choreoacanthocytosis
Distal amyotrophy, Myopathy, Muscle fiber atrophy, Peroneal muscle atrophy ORPHA:2388

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 Cav2

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 Cav2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Elevated postischemic tissue injury and leukocyte-endothelial adhesive interactions in mice with global deficiency in caveolin-2: role of PAI-1. American journal of physiology. Heart and circulatory physiology (January 2021) Cav2tm1(KOMP)Mbp 33416452
Caveolin-2 deficiency induces a rapid anti-tumor immune response prior to regression of implanted murine lung carcinoma tumors. Scientific reports (December 2019) Cav2tm1(KOMP)Mbp PMC6908574
Attenuated rapid onset vasodilation with greater force production in skeletal muscle of caveolin-2-/- mice. American journal of physiology. Heart and circulatory physiology (June 2016) Cav2tm1(KOMP)Mbp PMC5008651
Host deficiency in caveolin-2 inhibits lung carcinoma tumor growth by impairing tumor angiogenesis. Cancer research (September 2014) Cav2tm1(KOMP)Mbp PMC4233177

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MGI Allele Allele Type Produced
Cav2tm199278(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Cav2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cav2em1(IMPC)Kmpc Deletion Mice
Cav2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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