Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 10
Synonyms:
ZnMP

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Adamts10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adamts10 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Weill-Marchesani Syndrome
Brachydactyly, Cataract, Short thumb, Ectopia lentis ORPHA:3449
Weill-Marchesani Syndrome 1
Brachydactyly, Cataract, Broad metacarpals, Broad phalanges of the hand, Microspherophakia, Broad... OMIM:277600

The table below shows human diseases predicted to be associated to Adamts10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Catar... OMIM:609115
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Posterior capsular cataract, Limb-girdle muscle weakness, Increased va... ORPHA:399058
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Congeni... OMIM:117000
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Myopathy, Scapular winging, ... OMIM:616471
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Flexion contracture, Long toe, Increased endomysial ... ORPHA:75840
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Knee flexion contracture, Congenital foot contractures, Hip contra... OMIM:602484
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Cataract, Muscula... OMIM:608810
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pals... OMIM:300580
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy OMIM:604393
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Slender build, Increased variability in muscle fiber diamet... ORPHA:171439
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myopathy, Distal, 3
Split hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Optic disc pallor, Pigmentary retinopathy OMIM:204100
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of fingers, Flexion contracture, Congenital muscular dystrophy, Slender build, M... OMIM:254090
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Meta... ORPHA:750
Myopathy, Congenital, With Fiber-Type Disproportion
Congenital hip dislocation, Limb joint contracture, Failure to thrive, Type 1 fibers relatively s... OMIM:255310
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Generalized amyotrophy, Increased variability in muscle fibe... ORPHA:52430
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Abnormality of pelvic girdle bone morphology, Shoulder girdle muscle at... OMIM:167320
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Irregular femoral epiphysis, Upper-limb metaphyseal irregularity, Short long bone, Lo... OMIM:618728
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy OMIM:204000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short... OMIM:146000
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Costal cartilage calcification, Short finger, Hip contr... OMIM:222600
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Obesity, Keratoconus, Optic atrophy ORPHA:791
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Small for gestational age, Adducted thumb, Arthrogryposis multiplex congenit... OMIM:618484
Marinesco-Sjogren Syndrome
Developmental cataract, Flexion contracture, Coxa valga, Skeletal muscle atrophy, Short metacarpa... OMIM:248800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Developmental cataract, Abnormal muscle fiber protein expression ORPHA:330054
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Typical Nemaline Myopathy
Genu varum, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Limb-girdle muscle w... ORPHA:171436
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Adducted thumb, Nemaline bodies, Arthrogryposis m... OMIM:619334
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Coxa valga, Short femoral neck, Obesi... OMIM:618363
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Skeletal muscle hypertrophy, Skeletal muscle atrophy ORPHA:101082
Brachyolmia Type 1, Hobaek Type
Short femoral neck, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Short long bone... OMIM:271530
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Webbed neck, Minicore myopathy, Clinodactyly, Flexion contracture, Increased endomysial connectiv... ORPHA:178148
Central Core Disease
Nemaline bodies, Multiple joint contractures, Congenital hip dislocation, Type 1 muscle fiber pre... ORPHA:597
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Perone... OMIM:181405
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Flared metaphysis, Wide anterior fontanel, Hip contracture, Shor... OMIM:601561
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Delayed epiphyseal ossification, Abnormal acetabulum morp... ORPHA:93308
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Obesity, Lower limb undergrowth, Skeletal muscle hy... ORPHA:314795
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Preaxial hand polydactyly, P... OMIM:175700
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Rimmed vacuoles, Calf muscle hypertrophy ORPHA:263494
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Acromicric Dysplasia
Short palm, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Fifth metacarpal wi... OMIM:102370
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Art... OMIM:616867
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Short long bone, Macroglossia ORPHA:1423
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Cataract, Muscular dystrophy, Myopathy, Muscle fiber atrophy ORPHA:369840
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Myotonia With Skeletal Abnormalities And Mental Retardation
Irregular femoral epiphysis, Genu valgum, Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Skeletal muscle atrophy, Hypoplasia of the iris,... OMIM:609049
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... OMIM:258450
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Retinal detachment, Decreased corneal thicknes... ORPHA:90354
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Calf muscle pse... ORPHA:79083
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Catarac... OMIM:157640
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short tibia, Short long bone, Short 3rd metacarpal, S... OMIM:118651
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... ORPHA:119
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy OMIM:619026
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Metaphyseal s... OMIM:608728
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology OMIM:606072
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly, Optic nerve aplasia, Op... OMIM:120200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Myopathy, Increased muscle glycogen content, Increased mu... ORPHA:254864
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Familial Partial Lipodystrophy, Dunnigan Type
Thin skin, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy ORPHA:2348
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Cataract, Obesity... OMIM:615418
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Brachydactyly, Narrow iliac wing, Genu varum, Carpal bone hypoplasia, Metaphyseal irregularity, S... OMIM:250420
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Failure to thrive, Conjunctivitis OMIM:242150
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Macroglossia, Skeletal mu... OMIM:613156
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Corneal opacity, Squared iliac bones, Short long bone, Metaphyseal widening, Coars... OMIM:618961
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Developmental cataract, Myopathy OMIM:540000
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Delayed pubic bone ossification, Cataract, Lens... ORPHA:93296
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Brachydactyly, Bowing of the legs, Bowing of the long bones, Metaphyseal irregularity, Abnormalit... ORPHA:85167
Microtriplication 11Q24.1
Keratoconus, Obesity ORPHA:289522
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Short long bone, Hypoplastic aceta... ORPHA:239
Schwartz-Jampel Syndrome, Type 1
Coxa valga, Skeletal muscle atrophy, Microcornea, Cataract, Congenital hip dislocation, Anterior ... OMIM:255800
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalize... OMIM:607459
Pseudoachondroplasia
Brachydactyly, Genu varum, Irregular epiphyses, Metaphyseal irregularity, Fragmented, irregular e... OMIM:177170
King-Denborough Syndrome
Minicore myopathy, Webbed neck, Type 1 muscle fiber predominance, Failure to thrive, Weakness of ... OMIM:619542
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Knee flexion contractu... OMIM:619461
Richieri Costa-Da Silva Syndrome
Metatarsus adductus, Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness, Distal lower ... ORPHA:3101
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Osteolytic defects of the phalanges of the hand, Skeletal muscle... OMIM:600705
Stuve-Wiedemann Syndrome 1
Bowing of the long bones, Contracture of the proximal interphalangeal joint of the 5th finger, Me... OMIM:601559
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Cataract, Muscular dystrophy, Increased variability in muscle fibe... OMIM:613150
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Advanced ossification of carpal bones, Metaphyseal widening, Broad long... OMIM:224400
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Long... ORPHA:169186
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormality of the optic disc, Decreased corneal thickness ORPHA:293967
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture OMIM:611588
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Skeletal muscle atrophy, Clinodactyly of the 5th finger, Facial pal... ORPHA:3068
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Hand muscle weakness, Distal lower limb muscle we... OMIM:606070
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Calf mus... OMIM:253700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fibers, Abnormal mitochond... OMIM:252011
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Reduced muscle fiber alph... ORPHA:370959
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Cataract, Increased variability in muscle fiber diameter ORPHA:70595
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Laron Syndrome
Short long bone OMIM:262500
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Generalized amyotrophy, Increased variability in muscle fiber diameter, Diap... OMIM:616866
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... OMIM:184260
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Hand muscle weakness, Myopathy, Facial palsy, Scapular winging, Muscle ... ORPHA:254886
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Obesity, Short long bone, Postaxial polydactyly OMIM:615633
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormality of the epiphysis of the femoral head, Abnormal carti... ORPHA:485
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short long bone, Flexion contracture, Short palm, Short metacarpal, Large tarsal bones, Short pha... OMIM:215150
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Clinodactyly of the 5th finger, Hypoplastic s... OMIM:228520
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle a... OMIM:619518
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Arthrogryposis multiplex cong... ORPHA:168572
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Triceps weakness, Clubbing of fingers, ... OMIM:619574
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Short long bone, Metaphyseal widening, Wide... OMIM:263210
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic nerve hypoplasia, Optic atrophy ORPHA:401777
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Flexion contracture, Short palm, Short metacarpal, Short phalanx of finger, Single... OMIM:611717
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Decrease... ORPHA:57
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Cataract, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Retinal degeneration ORPHA:542306
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Flared metaphysi... OMIM:187600
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Mucolipidosis Iii Alpha/Beta
Short long bone, Shallow acetabular fossae, Hyperopic astigmatism, Irregular carpal bones, Soft t... OMIM:252600
Mucolipidosis Ii Alpha/Beta
Carpal bone hypoplasia, Metaphyseal widening, Diastasis recti, Flared iliac wing, Split hand, Hyp... OMIM:252500
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, EMG: m... ORPHA:502423
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Flexion contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Increased... ORPHA:17
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Hallux valgus, Metaphyseal widening, Genu valgum, Hip dislocation, Flexion con... OMIM:271640
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Hip joint hypermobility, Short proximal phalanx ... ORPHA:15
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle we... ORPHA:99013
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Myopathy, Weakness of facial musculature ORPHA:352447
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Proximal muscle weakness in l... ORPHA:169189
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Genu varum, Short long bone, Toe clinodactyly, Coxa valga,... OMIM:615777
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Small for gestational age, Conge... OMIM:615368
Oculopharyngodistal Myopathy 1
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorma... OMIM:164310
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Abnormality of the extraocular muscles, Ragged-red muscle fibers, Cach... ORPHA:298
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... ORPHA:457395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Metaphyseal cupping, Short long bone, Flat acetabular... OMIM:151210
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Failure to thrive, Corneal dystrophy ORPHA:52
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hypoplastic ischia, Developmental cataract, Flexion contracture, Pterygium, H... ORPHA:1865
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Weight loss OMIM:603041
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy OMIM:168300
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy OMIM:255700
Microphthalmia, Syndromic 1
Webbed neck, Clinodactyly, Chorioretinal coloboma, Ciliary body coloboma, Microcornea, Radial dev... OMIM:309800
Costello Syndrome
Keratoconus, Failure to thrive in infancy ORPHA:3071
Xylt1-Cdg
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Truncal obesity, Flared metaphysis... ORPHA:370930
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Clinodactyly of the 5th finger, Metaphyseal chondrodysplasia, Metaphyse... OMIM:156400
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy OMIM:613877
Angelman Syndrome
Astigmatism, Obesity, Optic disc pallor, Iris hypopigmentation, Keratoconus, Optic atrophy ORPHA:72
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Re... OMIM:614643
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Schwartz-Jampel Syndrome
Protrusio acetabuli, Arthrogryposis multiplex congenita, Genu valgum, Hip dysplasia, Bowing of th... ORPHA:800
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy ORPHA:99735
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Abnormal morphology of musculature of pharynx, Abnormalit... ORPHA:600
Myhre Syndrome
Brachydactyly, Clinodactyly, 2-3 toe syndactyly, Small for gestational age, Generalized muscle hy... OMIM:139210
Myhre Syndrome
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Cataract, Abnormality of the meta... ORPHA:2588
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Contractures of the joints of the lower limbs, Cachexia, Distal amyotrop... ORPHA:300605
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Failure to thrive, ... OMIM:615503
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Ragged-red muscle fibers, Failure to thrive, Rhabdomyolysis OMIM:124000
Achondrogenesis, Type Ii
Broad long bones, Hypoplastic iliac wing, Short tubular bones of the hand, Short long bone OMIM:200610
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy ORPHA:99736
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Muscle fiber atrophy, Microcornea, EMG: myopathic abnormalities, Conge... ORPHA:1900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers OMIM:619424
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy OMIM:608390
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Distal lower limb m... ORPHA:206572
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:160800
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Metaphyseal widening, Genu valgum, Hip dislocation, Brachydactyly... ORPHA:93357
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content, Failure to thrive... ORPHA:367
Gapo Syndrome
Keratoconus, Optic atrophy ORPHA:2067
Warburg-Cinotti Syndrome
Corneal neovascularization, Symblepharon, Decreased corneal thickness, Limbal stem cell deficiency OMIM:618175
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Muscle fiber necrosis, EMG: myopathic abnormalities, Knee flexion contract... OMIM:618733
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Limbal stem cell deficiency, Increased corneal thickness, Keratoconjunctiviti... ORPHA:2363
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... OMIM:613091
Short Rib-Polydactyly Syndrome
Brachydactyly, Bowing of the long bones, Abnormal ilium morphology, Abnormal pelvis bone morpholo... ORPHA:1505
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal ossification, Abnorm... ORPHA:93352
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Dystonia 7, Torsion
Torticollis, Skeletal muscle hypertrophy OMIM:602124
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Cataract, Tapered finger, Knee flexion contracture, Long fingers, Increased muscle lipi... OMIM:608836
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Increased muscle lipid content, Rhabdomyolysis, Muscle fiber atrophy ORPHA:228302
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Congenital hip dislocation, EMG: myopathic abnormalities, Arthrogryp... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Congenital hip dislocation, EMG: myopathic abnormalities, Arthrogryp... ORPHA:98914
Pyknoachondrogenesis
Webbed neck, Hypoplastic ischia, Aplastic pubic bones, Short iliac bones, Muscular edema, Short l... ORPHA:3003
Spondylometaphyseal Dysplasia, Sedaghatian Type
Brachydactyly, Widened greater sciatic notch, Metaphyseal irregularity, Cone-shaped metacarpal ep... OMIM:250220
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short long bone, Progressive calcification of costochondral cartilage, Flared... OMIM:271665
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... ORPHA:1106
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Proximal upper limb muscle hypertrophy, Muscle hypertrophy of the lower extremities, Osteolytic d... ORPHA:280365
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Gapo Syndrome
Keratoconus, Optic atrophy OMIM:230740
Geleophysic Dysplasia 1
Coxa valga, Camptodactyly of finger, Irregular capital femoral epiphysis, Short palm, Short metac... OMIM:231050
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract, Corneal opacity, Retinal detachmen... ORPHA:649
Multiple Osteochondromas
Bowing of the long bones, Abnormal pelvis bone morphology, Coxa valga, Abnormal lower limb bone m... ORPHA:321
Autosomal Dominant Progressive External Ophthalmoplegia
Left ventricular hypertrophy, Ragged-red muscle fibers, Cataract, EMG: myopathic abnormalities, L... ORPHA:254892
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Frank-Ter Haar Syndrome
Bowing of the long bones, Short palm, Short phalanx of finger, Metatarsus adductus, Flared metaph... OMIM:249420
Campomelic Dysplasia
Narrow iliac wing, Fibular hypoplasia, Hypoplastic iliac wing, Hallux valgus, Short 1st metacarpa... OMIM:114290
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Decreased body weight, Congenital muscular dystrophy, Absent muscl... ORPHA:258
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Microcornea OMIM:225400
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Weight loss, Lower limb muscle weakness, Obesity, Increased intramyocellular lipi... ORPHA:79102
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Postaxial foot polydactyly, Acetabular spurs, Hypoplas... OMIM:225500
Congenital Ptosis
Increased muscle lipid content, Astigmatism, Congenital facial diplegia, Congenital fibrosis of e... ORPHA:91411
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Decreased body weight, Expanded phalanges with widened medul... OMIM:182250
Neutral Lipid Storage Myopathy
Foot dorsiflexor weakness, Hand muscle weakness, Generalized limb muscle atrophy, Myopathy, Incre... ORPHA:98908
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Brachydactyly, Flexion contracture, Trident pelvis, Short humerus, Short long bone, Bowed humerus OMIM:619479
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Cortical cataract, Posterior subcapsular cataract ORPHA:637
Microphthalmia, Syndromic 2
Developmental cataract, Decreased body weight, Microcornea, Retinal detachment, Remnants of the h... OMIM:300166
Neuroocular Syndrome
Microcornea, Cataract, Iris coloboma, Blue irides, Remnants of the hyaloid vascular system, Peter... OMIM:619539
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Abnormality of the shoulder girdle musculature, Abnormality of the calf muscul... ORPHA:565612
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Weill-Marchesani Syndrome
Brachydactyly, Cataract, Short thumb, Ectopia lentis ORPHA:3449
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus ORPHA:286
Weill-Marchesani Syndrome 1
Brachydactyly, Cataract, Broad metacarpals, Broad phalanges of the hand, Microspherophakia, Broad... OMIM:277600

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 Adamts10

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 Adamts10.

No publications found that use IMPC mice or data for Adamts10.

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MGI Allele Allele Type Produced
Adamts10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adamts10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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