Gene Summary

Name:
caveolin 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

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
Prostate Cancer, Hereditary, 1
Neoplasm, Prostate cancer OMIM:601518
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Fatigue, Shoulder ... OMIM:619477
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers, Exercise intolerance OMIM:616839
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Inclusion Body Myositis
Myalgia, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-re... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
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
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Exercise-induced... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Tubular Aggregate Myopathy
Myalgia, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in musc... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Mitochondrial Myopathy With Diabetes
Exercise intolerance, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-... OMIM:500002
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Exercise intoler... OMIM:616209
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Myopathy, Myofibrillar, 3
Myalgia, Myofibrillar myopathy, Distal amyotrophy, Achilles tendon contracture, Muscle fiber cyto... OMIM:609200
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in lower limbs, Weakness of facial musculature, In... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy, Exercise intolerance OMIM:609273
Distal Myopathy, Tateyama Type
Myalgia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:488650
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rim... OMIM:300696
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Exercise-induced myalgia, Limb-girdle musc... ORPHA:178400
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myalgia, Back pain, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Exercise-induced myalgia, Increased variability... OMIM:160565
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Exercise-induced myalgia, Muscular dystrophy, Increased variability in muscle fi... OMIM:255320
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Adult-Onset Nemaline Myopathy
Nemaline bodies, Myalgia, Flexion contracture, EMG: myopathic abnormalities, Increased variabilit... ORPHA:171442
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... OMIM:256030
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Myopathy, Centronuclear, 4
Myalgia, Centrally nucleated skeletal muscle fibers, Fatigue OMIM:614807
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Tuberculosis
Abnormal lung morphology, Fatigue ORPHA:3389
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
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Myopathy, Distal, 1
Myalgia, Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle... OMIM:160500
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Creatine Phosphokinase, Elevated Serum
Myalgia, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Fati... OMIM:123320
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
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Myalgia, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness,... OMIM:603511
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Abdominal pain, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increas... ORPHA:86812
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relatively smaller... ORPHA:596
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Hip pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pel... OMIM:167320
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
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
Multiminicore Myopathy
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... ORPHA:598
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema OMIM:130700
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Myalgia, Flexion contracture, Z-band streaming, Inc... OMIM:617114
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
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Ches... ORPHA:263494
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul... OMIM:616867
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Exercise intolerance, EMG: myopathic abnor... ORPHA:171439
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Fatigue, Abdominal pain OMIM:616794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Myalgia, Exercise intolerance, Muscular dystrophy, Increased variability i... OMIM:616812
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Myalgia, Arthralgia, Proximal muscle weakness in lower limbs, EMG: myopath... ORPHA:206569
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... OMIM:614399
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
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Sudden death, Facial palsy, Centrally nucleated ske... OMIM:611705
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Recurrent acute respiratory tract in... OMIM:620011
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Recurrent infections due to aspiration, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy,... OMIM:617519
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... OMIM:602771
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Myalgia, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower... ORPHA:352479
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... OMIM:254090
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
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
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Exercise intoler... ORPHA:536516
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Myalgia, Exercise intolerance OMIM:619024
Laing Early-Onset Distal Myopathy
Myalgia, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Myalgia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities,... ORPHA:329478
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... ORPHA:1145
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Abnormal pulmonary interstitial morphology, Chest pain, Pleural effusion, Emphyse... OMIM:612387
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Idiopathic Bronchiectasis
Halitosis, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Chest pain, ... ORPHA:60033
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Left ventricular hypertrophy, Fatigu... OMIM:615418
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myalgia, Muscle fiber atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Myopathy ORPHA:369840
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:618276
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... OMIM:609560
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Recurrent lower respirato... OMIM:617258
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated ... OMIM:255310
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy OMIM:603034
Bronchopulmonary Dysplasia
Pulmonary sequestration, Exercise intolerance, Right ventricular hypertrophy, Emphysema, Abnormal... ORPHA:70589
Glycogen Storage Disease Due To Aldolase A Deficiency
Myalgia, Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Ske... ORPHA:57
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... ORPHA:98855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Exercise intolerance, Weakness of facial musculature... OMIM:258450
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance OMIM:617336
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Myalgia, Lower limb pain, Exercise intolerance, Fatigue, Ragged-red muscle fibers, Chest pain ORPHA:1349
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
Polymyositis
Myalgia, Abnormal muscle fiber morphology, Abdominal pain, Fatigue, Abnormal pulmonary interstiti... ORPHA:732
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Exercise intolerance, Scapular winging, Ragged-red mu... ORPHA:254886
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Omenn Syndrome
Hypoproteinemia OMIM:603554
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hip pain, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber di... ORPHA:52430
Cap Myopathy
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... ORPHA:171881
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... OMIM:606070
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Pain ORPHA:477774
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Exercise intolerance, Left ventricular noncompaction, Increased intramyocell... OMIM:252011
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Dengue Fever
Hypoproteinemia ORPHA:99828
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... ORPHA:98863
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Chronic bronchitis, Honeycomb lung, Chest pain, Respiratory tract infection, Emphysema, Bronchiec... ORPHA:79127
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... ORPHA:261
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... OMIM:181405
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Limb muscle weak... OMIM:161800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Exercise intolerance, EMG: myopathic abnormalities, Increased variability ... OMIM:157640
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Leptospirosis
Hyperproteinemia ORPHA:509
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Spastic Paraplegia Type 7
Lower limb pain, Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upp... ORPHA:99013
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Type 1 muscle fiber predominance, W... ORPHA:98913
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Emphysema OMIM:604571
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Exercise-induced myalgia... OMIM:619542
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Abdominal pain OMIM:613662
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, General... ORPHA:352447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Fatigue, Ragged-red muscle fibers, L... OMIM:609286
Familial Partial Lipodystrophy, Dunnigan Type
Myalgia, Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Pparg-Related Familial Partial Lipodystrophy
Myalgia, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal musc... ORPHA:79083
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myalgia, Muscle fiber atrophy, Exercise intolerance, Exercise-induced myalgia, Rhabdomyolysis, In... ORPHA:228302
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
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
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... OMIM:619518
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
Lipodystrophy, Congenital Generalized, Type 4
Myalgia, Flexion contracture, Skeletal muscle hypertrophy, Exercise intolerance, Muscular dystrop... OMIM:613327
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hypoproteinemia OMIM:615895
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Overlap Myositis
Constitutional symptom, Limb pain, Abnormal pulmonary interstitial morphology, Perifascicular mus... ORPHA:206572
Marinesco-Sjogren Syndrome
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... OMIM:248800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Increased variability in muscle fiber diameter, Elbow flexion con... OMIM:619461
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Night sweats, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated skele... OMIM:619574
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Exercise intolerance, Weakness of facial musculature, Scapular winging, In... OMIM:607459
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Absent bronchoalveolar surfactant-protein C, Nodular pattern on pulmonary H... OMIM:610921
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Chylothorax, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Congenital contracture, Ty... OMIM:619036
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Type 2 muscle fiber atrophy, Type 1 muscle fiber predominance, Lower limb hypert... ORPHA:319514
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Myalgia, Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musc... ORPHA:502423
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Arthralgia, Proximal amyotrophy OMIM:606408
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture OMIM:615368
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Abdominal pain, Foot dorsiflexor weakness, Ragged-red mus... ORPHA:298
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Native American Myopathy
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... ORPHA:168572
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Recurrent respiratory infections, Emphysema OMIM:219100
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... ORPHA:217563
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis, Pain ORPHA:449285
Myopathy, Mitochondrial, And Ataxia
Myalgia, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Juvenile Amyotrophic Lateral Sclerosis
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Di... ORPHA:300605
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Hypophosphatasia
Emphysema ORPHA:436
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
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fo... OMIM:164310
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Fatigue OMIM:607426
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... ORPHA:98915
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
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Exercise-induced myalgia, Myositis, Lower limb muscle weakness, Abno... ORPHA:99845
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... ORPHA:2020
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema OMIM:242700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... ORPHA:258
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Increased variability in muscle fiber diameter, Increased intramyocellular l... ORPHA:17
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Neutral Lipid Storage Myopathy
Myalgia, Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor w... ORPHA:98908
Myotonic Dystrophy 2
Myalgia, Type 2 muscle fiber atrophy, Weakness of facial musculature, Sternocleidomastoid amyotro... OMIM:602668
Hypocomplementemic Urticarial Vasculitis
Myalgia, Pleural effusion, Abdominal pain, Emphysema ORPHA:36412
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Quadriceps muscle w... ORPHA:254892
Loeys-Dietz Syndrome 4
Torticollis, Chronic pain, Pneumothorax, Emphysema OMIM:614816
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, EMG: myopathic abnormalities, Calf muscle hypertrophy, Wrist flexion contr... OMIM:618733
Pierson Syndrome
Hypoproteinemia OMIM:609049
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
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
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
Common Variable Immunodeficiency
Arthralgia, Recurrent bronchitis, Pneumonia, Emphysema, Bronchiectasis, Recurrent respiratory inf... ORPHA:1572
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Exercise intolerance OMIM:124000
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Lymphangioleiomyomatosis
Chylothorax, Abdominal pain, Fatigue, Chest pain, Emphysema, Pneumothorax, Pulmonary lymphangiomy... ORPHA:538
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... ORPHA:565612
Idiopathic Camptocormia
EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... ORPHA:1320
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Allodynia, Abdominal pain, Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Thyrotoxic Periodic Paralysis
Increased intramyocellular lipid droplets, Rhabdomyolysis, Abnormal muscle fiber morphology, Lowe... ORPHA:79102
Nocardiosis
Night sweats, Fatigue, Pneumothorax, Pleuritis, Chest pain, Pneumonia, Emphysema, Ocular pain, Pl... ORPHA:31204
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy OMIM:613845
Marfan Syndrome
Myalgia, Pulmonary artery dilatation, Spontaneous pneumothorax, Emphysema, Chronic fatigue, Arthr... ORPHA:558
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Pulmonary artery aneurysm, Congenital diaphragmatic hernia, Emphysema OMIM:614437
Congenital Tracheomalacia
Recurrent upper respiratory tract infections, Pneumothorax, Partial anomalous pulmonary venous re... ORPHA:95430
Melas
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Myopathy, Exercise intolerance ORPHA:550
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema OMIM:613177
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Fabry Disease
Myalgia, Abdominal pain, Left ventricular hypertrophy, Fatigue, Emphysema, Arthralgia ORPHA:324
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Chest pain, Pleural effusion, Emphysema, Bronchiectas... OMIM:181000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Ragged-red muscle fibers, Skeletal muscle atrophy, Exe... OMIM:252010
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... OMIM:130050
Meier-Gorlin Syndrome 1
Emphysema, Joint contracture of the hand, Flexion contracture, Camptodactyly OMIM:224690
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema ORPHA:90349
Sarcoidosis
Chylothorax, Fatigue, Abnormal pleura morphology, Pneumothorax, Chest pain, Pleural effusion, Emp... ORPHA:797
Neonatal Marfan Syndrome
Flexion contracture, Emphysema ORPHA:284979
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema OMIM:616835
Marfan Syndrome
Flexion contracture, Camptodactyly, Pulmonary artery dilatation, Emphysema, Pneumothorax, Decreas... OMIM:154700
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy OMIM:614557
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers ORPHA:255210
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema ORPHA:289
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema OMIM:219721
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Emphysema OMIM:245150
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology, Exercise intolerance OMIM:613658
Autosomal Dominant Cutis Laxa
Bronchiectasis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema ORPHA:90348
Singleton-Merten Syndrome 1
Pleural effusion, Muscle fiber atrophy, Tendon rupture, Recurrent respiratory infections OMIM:182250
Choreoacanthocytosis
Peroneal muscle atrophy, Muscle fiber atrophy, Myopathy, Distal amyotrophy ORPHA:2388
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Emphysema ORPHA:500150
Viss Syndrome
Macroglossia, Right ventricular hypertrophy, Pulmonary artery aneurysm, Contracture of the proxim... OMIM:619472

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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