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Gene: Col15a1 MGI:88449

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type XV, alpha 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Col15a1 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 Col15a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di... OMIM:614065
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Nemaline Myopathy 6
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Myopathy OMIM:609273
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Myopathy, Congenital contracture OMIM:208100
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert... OMIM:611705
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Fingerprint Body Myopathy
Myopathy OMIM:305550
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Bethlem Myopathy 1A
Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbow flexion contractur... OMIM:158810
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... OMIM:600334
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, E... OMIM:608099
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, For... OMIM:300695
Distal Nebulin Myopathy
Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Weakness of the intrinsi... ORPHA:399103
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Amyotrophy of ankle musculature, EMG: myopathic abnormalities, Weaknes... ORPHA:399081
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle... OMIM:608807
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
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:619216
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy OMIM:255100
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia ORPHA:104
Congenital Disorder Of Glycosylation, Type Iid
Decreased muscle mass, Myopathy OMIM:607091
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Hip contracture, Cardiac conduction abnormalit... ORPHA:97244
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil... OMIM:300580
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Myofib... OMIM:609452
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,... OMIM:605355
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Scapular winging, EMG: myopathic abnormalities, Minicore myopat... ORPHA:424107
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Quadrice... OMIM:611307
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ... ORPHA:98911
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Cardiomyopathy, Limb-girdle muscle... ORPHA:86812
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Limb muscle weakness, General... OMIM:167320
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Nemaline Myopathy 7
Weakness of facial musculature, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, ... OMIM:610687
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... OMIM:310440
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb muscle weakness, Facial diplegia, EMG: myopathic abnormalities, Nemaline bodies... OMIM:609284
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Generalized amyotrophy, Myopathy OMIM:618323
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,... ORPHA:171439
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:608810
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakness of the i... ORPHA:399086
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Myasthenic Syndrome, Congenital, 5
Limb muscle weakness, Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 m... OMIM:603034
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ... ORPHA:206569
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Nemaline bodies, Myofibrillar myopathy OMIM:615348
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myopathy ORPHA:157973
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Muscle fiber hyaline bodies, Fourth heart sound, Right axis deviation, ... OMIM:255160
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Joint contr... OMIM:610099
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Facial palsy, Scapular winging, EMG: myopathic ab... OMIM:612954
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g... ORPHA:119
Congenital Myasthenic Syndromes With Glycosylation Defect
Ragged-red muscle fibers, Scapular winging, Facial palsy, Muscle fiber tubular inclusions, Genera... ORPHA:353327
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Skeletal myopathy, Sternocleidomastoid amyotrophy, Proximal... ORPHA:2596
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Ragged-red muscle fibers, Increased muscle lipid content, Myop... ORPHA:254864
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy, Hypertrophic cardiomyopathy OMIM:618237
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy OMIM:618234
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Viral infection-induced rhabdo... OMIM:154275
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Arterial rupture, Skeletal muscle atrophy ORPHA:300179
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, EMG: myopathic abn... ORPHA:263297
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc... ORPHA:353
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Spinal muscular atrophy, Arthrogryposis multiplex congenita, Flexion contracture, M... OMIM:301830
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Viral infection-induced rhabdo... OMIM:154276
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o... ORPHA:397744
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,... OMIM:602541
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Amish Nemaline Myopathy
Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, Proximal amyotrophy,... ORPHA:98902
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Scapular winging, Facial palsy, Cardiomyopathy, Hand muscle weakness, M... ORPHA:254886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con... ORPHA:272
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy ORPHA:369840
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Rimmed vacuoles, Facial ... ORPHA:329478
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy ORPHA:2349
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy ORPHA:2598
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Hypertension, Skeletal muscle atrophy, Myopathy, Lower limb muscle weakness OMIM:615980
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil... ORPHA:352447
Glycogen Storage Disease Iii
Distal amyotrophy, Cardiomyopathy, Myopathy OMIM:232400
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Myofibrillar Myopathy 10
Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, EMG: myopathic abno... OMIM:619040
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atrophy, Facial dipl... ORPHA:370980
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder girdle muscle weakness OMIM:615156
Congenital Myopathy 16
Flexion contracture, Scapular winging, EMG: myopathic abnormalities OMIM:618524
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre... OMIM:614399
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Sengers Syndrome
Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Sudden cardiac deat... OMIM:212350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow flexion contractu... OMIM:608840
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies OMIM:616549
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis... OMIM:161800
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:75840
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Myocardial necro... OMIM:300257
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c... ORPHA:1145
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:254875
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn... ORPHA:98913
Carcinoid Syndrome
Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, Heart murmur, Palpitat... ORPHA:100093
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Limb muscle weakness, Ge... OMIM:609560
Typical Nemaline Myopathy
Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis multiplex congenita, Limb-girdle m... ORPHA:171436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Shoulder... OMIM:606612
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, EMG: myopathic abnormalities, Upper limb muscle weakness, Lower limb muscle we... ORPHA:99939
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Reduced muscle carnitine level, Cardiomyopathy, Hypertrophic cardiomyop... OMIM:212140
Bethlem Muscular Dystrophy
Muscular dystrophy, Ankle flexion contracture, Reduced muscle collagen VI, Elbow flexion contract... ORPHA:610
Marinesco-Sjogren Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle... OMIM:248800
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy ORPHA:1215
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Distal amyotrophy, Hypertroph... ORPHA:3208
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy OMIM:300653
Spinocerebellar Ataxia With Epilepsy
Myopathy ORPHA:254881
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal muscle atrophy, Increase... OMIM:255125
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Hyperkalemic Periodic Paralysis
Congestive heart failure, Skeletal muscle hypertrophy, Flexion contracture, Skeletal muscle atrop... ORPHA:682
Axial Osteomalacia
Myopathy OMIM:109130
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weakness of facial musculature,... OMIM:619542
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:79083
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi... ORPHA:99901
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, Dila... ORPHA:367
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Arrhythmia, Myopathy, Skeletal muscle atrophy ORPHA:42
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Myopathy ORPHA:363400
Myopathy, Centronuclear, 2
Facial palsy, Scapular winging, EMG: myopathic abnormalities, Generalized amyotrophy, Centrally n... OMIM:255200
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cardiac arrest, Myopathy, Hypertrophic cardiomyop... OMIM:604377
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy OMIM:609015
Combined Oxidative Phosphorylation Deficiency 24
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy OMIM:616239
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... ORPHA:559
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Increase... ORPHA:52430
Neutral Lipid Storage Myopathy
Congestive heart failure, Generalized limb muscle atrophy, Rimmed vacuoles, Cardiomyopathy, Hand ... ORPHA:98908
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Mcleod Syndrome
Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy OMIM:300842
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Card... OMIM:258450
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy ORPHA:713
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature OMIM:201470
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnormality of the foot muscula... ORPHA:169189
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Caribbean Parkinsonism
Orthostatic hypotension, EMG: myopathic abnormalities ORPHA:97355
Synaptic Congenital Myasthenic Syndromes
Scapular winging, Facial palsy, Pulmonary arterial hypertension, Hand muscle weakness, Skeletal m... ORPHA:98915
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... OMIM:607459
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:98673
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy OMIM:620326
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Abnormalit... ORPHA:565612
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Adrenomyodystrophy
Myopathy ORPHA:977
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotizing myopathy, Supraventricular tach... ORPHA:423
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Reduced left ventricular ejection fraction, Ragged-red muscle fibers, Atrial fibr... ORPHA:254892
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyoly... ORPHA:746
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Scleromyxedema
Abnormal skeletal muscle morphology, Transient ischemic attack, Myopathy, Raynaud phenomenon ORPHA:167635
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Myopathy... ORPHA:98907
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Barth Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy... OMIM:302060
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy ORPHA:71
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Calf muscle pseudohypertrophy, Hypertension, Cardiomyo... ORPHA:79086
Xanthinuria, Type I
Myopathy OMIM:278300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Skeletal muscle hypertrophy, Supr... ORPHA:280365
Cystinosis
Myopathy, Portal hypertension ORPHA:213
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Facial palsy, Hypertensive crisis, Skeletal muscle atroph... ORPHA:1358
Stormorken Syndrome
Subarachnoid hemorrhage, Epistaxis, Myopathy OMIM:185070
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy OMIM:614922
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Congenital Myopathy 9A
EMG: myopathic abnormalities OMIM:618822
Localized Scleroderma
Vasculitis, Arrhythmia, Flexion contracture, Raynaud phenomenon, Skeletal muscle atrophy, Myopathy ORPHA:90289
Usher Syndrome
Abnormal cardiovascular system physiology, Myopathy, Hypertrophic cardiomyopathy ORPHA:886
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Pulmonary arterial hypertensi... OMIM:254940
Xp21 Deletion Syndrome
Calf muscle hypertrophy, Decreased muscle mass, Myopathy ORPHA:261476
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:157
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,... ORPHA:550
Immunodeficiency 9
Myopathy OMIM:612782
Immunodeficiency 10
Myopathy OMIM:612783
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Hypertension, Myopathy ORPHA:85450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb... OMIM:157640
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Myopathy, Skeletal muscle atrophy OMIM:619743
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacu... OMIM:164310
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Triosephosphate Isomerase Deficiency
Congestive heart failure, Myopathy, Skeletal muscle atrophy OMIM:615512
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy OMIM:611881
Hereditary Xanthinuria
Myopathy ORPHA:3467
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Skeletal muscle atrophy, Intracranial hemorrhage, Myopathy, Telangiectasia ORPHA:109
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Multiple joint co... ORPHA:506
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Cardiomyopathy, Myopathy OMIM:610717
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Arthrogryposis multiplex congenita, Myopathy ORPHA:2953
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Mitral regurg... OMIM:614557
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Congenital Myopathy 17
Distal arthrogryposis, Myopathy, Diaphragmatic eventration OMIM:618975
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Myositis, EMG: myopathic abnormalities, Proximal spinal mus... ORPHA:1320
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture ORPHA:371364
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ... ORPHA:502423
Schwartz-Jampel Syndrome
Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, Wrist flex... ORPHA:800
Vici Syndrome
Congestive heart failure, Cardiomyopathy, Left ventricular hypertrophy, Dilated cardiomyopathy, M... OMIM:242840
Neuromuscular Oculoauditory Syndrome
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscle fiber necrosis, Wrist flexion contr... OMIM:618733
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle we... ORPHA:1900
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Frontalis muscle weakness, Distal amyotrophy, EMG: myopathic a... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Frontalis muscle weakness, Distal amyotrophy, EMG: myopathic a... ORPHA:98914
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Prolonged QT interval, EMG: myopathic abnormalities, Arrhythmia, Abnormal EKG ORPHA:480864
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy ORPHA:3463
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Facial hypotonia, Macroglossia, Mitral regurgitation, Myopathy ORPHA:309282
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Abetalipoproteinemia
Congestive heart failure, Distal lower limb muscle weakness, Myopathy ORPHA:14
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Mitral regurgitation, Myopathy, Pulmonary arterial hypertension OMIM:612541
Stromme Syndrome
Myopathy OMIM:243605
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Skeletal muscle atrophy, Antenatal intracerebral hemorr... ORPHA:536545
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Facial hypotonia, Left ventricular outflow tract... ORPHA:365
Multiple Endocrine Neoplasia, Type Iib
Myopathy OMIM:162300
Dermatomyositis
Myocarditis, Inflammatory myopathy, Myositis, Vasculitis, Sinus tachycardia, EMG: myopathic abnor... ORPHA:221
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy OMIM:307030
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Myopathy OMIM:234200
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Choreoacanthocytosis
Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy ORPHA:2388
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Flexion contracture, Hip contracture, Myopathy ORPHA:3042
Williams Syndrome
Congestive heart failure, Supravalvular aortic stenosis, Hypertension, Cerebral ischemia, Hypertr... ORPHA:904
1P36 Deletion Syndrome
Camptodactyly of finger, Dilated cardiomyopathy, Myopathy, Telangiectasia ORPHA:1606
Cystinosis, Nephropathic
Myopathy, Skeletal muscle atrophy OMIM:219800
Proteus Syndrome
Pulmonary embolism, Decreased muscle mass, Sudden cardiac death, Myofibrillar myopathy ORPHA:744

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 Col15a1

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 Col15a1.

No publications found that use IMPC mice or data for Col15a1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Col15a1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Col15a1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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