Gene Summary

Name:
collagen, type VI, alpha 3
Synonyms:
Col6a-3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Col6a3em1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Col6a3em1(IMPC)Tcp HOM Early adult 2.88×10-06
enlarged kidney Col6a3em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Col6a3em1(IMPC)Tcp HOM Early adult 0.00
prolonged QT interval Col6a3em1(IMPC)Tcp HOM Early adult 9.44×10-06
decreased body length Col6a3em1(IMPC)Tcp HOM Early adult 1.44×10-05

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Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

94 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

5 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Col6a3 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 Col6a3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col6a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
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
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:208100
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Salih Myopathy
Flexion contracture, Mitochondrial depletion, Myopathy, Facial palsy, Centrally nucleated skeleta... OMIM:611705
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
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Scapuloperoneal Myopathy, X-Linked Dominant
Foot dorsiflexor weakness, Flexion contracture, Scapular winging, Skeletal muscle atrophy, Lower ... OMIM:300695
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
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
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy, Decreased activity of mitochondrial respiratory chain OMIM:613076
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Thenar muscle atrophy, Decreased activity of mitoc... OMIM:500013
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Bethlem Myopathy 1
Skeletal muscle atrophy, Limb-girdle muscle weakness, Ankle flexion contracture, Myopathy, Tortic... OMIM:158810
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
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
Myopathy, Distal, 4
Skeletal muscle atrophy, Abnormality of the calf musculature, Myopathy, Distal upper limb amyotro... OMIM:614065
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy OMIM:616471
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Weakness of facial musculature, Decreased activity of mitochondrial complex IV, Increased intramy... OMIM:619062
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Skeletal ... OMIM:619518
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Klhl9-Related Early-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Intrinsic hand muscle at... ORPHA:399081
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Foot dorsiflexor weakness, Flexio... OMIM:619216
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, Ra... OMIM:619024
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture OMIM:618323
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Decreased plasma carniti... ORPHA:254864
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Flexion contracture, Myofibrillar myopathy OMIM:615348
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:616313
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
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
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Limb-girdle muscle weakness, Myopathy, Multiple joint contractures ORPHA:352470
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Carpal Tunnel Syndrome
Digital flexor tenosynovitis OMIM:115430
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Sh... OMIM:611307
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Weakness of f... OMIM:610687
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Myopathy, Spheroid Body
Myopathy, Proximal amyotrophy, Skeletal muscle atrophy OMIM:182920
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Rigid Spine Syndrome
Skeletal muscle atrophy, Myopathy, Hip contracture, Hamstring contractures, Elbow flexion contrac... ORPHA:97244
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Leber Hereditary Optic Neuropathy
Myopathy, Mitochondrial respiratory chain defects ORPHA:104
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex I, Rhabdomyolysis, Decreased activity of mitochondria... OMIM:255125
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, I... OMIM:619065
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Myopathy, Central... ORPHA:597
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Myopathy, Distal ... OMIM:167320
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Generalized amyotrophy, ... OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Skeletal muscle atrophy OMIM:608807
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Decreased muscle mass, Myopathy, Limb muscle weakness OMIM:603034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture OMIM:615368
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Myopathy, Arthrogryposis multiplex congenita, F... OMIM:301830
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Failure to thrive, Myopathy, Rimmed vacuoles, Centr... OMIM:248800
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Abnormality of the mitochondrion ORPHA:91130
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy OMIM:615511
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Decreased plasma carnitine, Increased muscle ... OMIM:500009
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Muscular dystrophy, Myopathy, Congenital muscular dystrophy OMIM:602541
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Facial palsy, Failure to thrive, Myopathy, Flexion contracture OMIM:201470
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Hip ... ORPHA:169186
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... ORPHA:119
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Scapular w... OMIM:616052
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Failure to thrive, Weakness of facial muscul... OMIM:619542
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper li... ORPHA:99013
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy OMIM:618234
Combined Oxidative Phosphorylation Deficiency 28
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Decreased activity of mi... OMIM:616794
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Flexion contracture, Cachexia, Skeletal muscle atrophy ORPHA:157973
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Rimmed vacuoles, Calf muscle hypertrophy ORPHA:263494
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Nephronophthisis 16
Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycystic kidney dysplasia, Ren... OMIM:615382
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, EMG: myopathic abnormalities, Type... ORPHA:171433
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Flexion contracture, Arthrogryposis mu... ORPHA:178148
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Muscle fiber atrophy ORPHA:369840
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Rhabdomyolysis, Flexion contracture, Skeletal musc... ORPHA:17
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Alcohol-induced rhabdomy... OMIM:154275
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, 3-Methylglutaric aciduria, Congestive heart failure, Sudden cardiac death... OMIM:610198
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Proximal muscle weakness in l... ORPHA:169189
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Generalized amyotrophy, Myopathy, Weakn... ORPHA:352447
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Triceps weakness, Foot dorsiflexor weakness, Centrally nucleated s... OMIM:619574
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Decrease... ORPHA:57
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Alcohol-induced rhabdomy... OMIM:154276
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Art... OMIM:616867
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Myopathy, Campt... ORPHA:272
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Calf mus... OMIM:253700
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Barth Syndrome
Skeletal myopathy, Abnormal mitochondrial morphology OMIM:302060
Adrenomyodystrophy
Myopathy OMIM:300270
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy ORPHA:262
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Foot dorsiflexor weakness, Decreased muscle glycogen content, EMG: myopathic abnormalities, Incre... ORPHA:263297
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Hand muscle weakness, Myopathy, Facial palsy, Scapular winging, Muscle ... ORPHA:254886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy ORPHA:26792
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Slender build, Muscle fiber necrosis, General... OMIM:254090
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Myopathy, Flexion contracture OMIM:618237
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies OMIM:616549
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Pulmonary insufficiency, Chronic tu... OMIM:602088
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Sengers Syndrome
Myopathy OMIM:212350
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Combined Oxidative Phosphorylation Defect Type 27
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Decreased activity of mi... ORPHA:477774
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Myofibrillar Myopathy 10
Increased QRS voltage, Increased circulating troponin I concentration, Left ventricular hypertrop... OMIM:619040
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy, Abdominal obesity OMIM:615980
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Limb muscle weakness, Type 1 muscle fiber predomin... OMIM:161800
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, ... ORPHA:254875
Typical Nemaline Myopathy
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Limb-girdle muscle weakness, Inc... ORPHA:171436
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy OMIM:300653
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Decreased activity of mitochondrial complex ... OMIM:252011
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Splenomegaly, Hepatomegaly, Polycystic kidney d... OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic sten... OMIM:615415
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Hepatomegaly, Prolonged QT interval, Atrioventr... ORPHA:398124
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212140
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalize... OMIM:607459
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial ... OMIM:608931
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... OMIM:258450
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Axial Osteomalacia
Myopathy OMIM:109130
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Upper limb muscle we... ORPHA:99939
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Facial palsy, EMG: myopathic abnormalities, Congenital muscular dystrophy, Limb muscle weakness OMIM:601170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Congenital muscular dystrophy, Shoulder girdle muscle atrophy, EMG: ... OMIM:606612
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Decreased activity of mi... OMIM:614924
Timothy Syndrome
Bradycardia, Cardiomegaly, Prolonged QT interval OMIM:601005
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper limbs, Abnorm... ORPHA:98913
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Knee flexion contractu... OMIM:619461
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
Glycerol Kinase Deficiency
Small for gestational age, Muscular dystrophy, Myopathy OMIM:307030
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Hand muscle weakness, Distal lower limb muscle we... OMIM:606070
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial h... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Oculogastrointestinal Muscular Dystrophy
Myopathy, Cachexia, Skeletal muscle atrophy ORPHA:1876
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalit... ORPHA:52430
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Adrenomyodystrophy
Failure to thrive, Myopathy ORPHA:977
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Xanthinuria, Type I
Myopathy OMIM:278300
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular... ORPHA:36913
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Immunodeficiency 9
Failure to thrive, Myopathy OMIM:612782
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Combined Oxidative Phosphorylation Deficiency 38
Abnormal mitochondrial morphology, Decreased activity of mitochondrial complex IV OMIM:618378
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:85329
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma free carnitine, Rhabdomyolysis, Decreased plasma total carnitine, Myopathy ORPHA:228305
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Generalized amyotrophy, Increased variability in muscle fiber diameter, Diap... OMIM:616866
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Carey-Fineman-Ziter Syndrome 1
Flexion contracture, Skeletal muscle atrophy, Failure to thrive, Myopathy, Pectoralis hypoplasia,... OMIM:254940
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Decreased plasma total carnitine, Myopathy, Skeletal muscle atrophy ORPHA:42
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Increas... OMIM:157640
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Peroneal muscle weak... OMIM:181405
Immunodeficiency 10
Myopathy OMIM:612783
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Carnosinuria, Cardiomyopathy OMIM:309930
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy ORPHA:1215
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content, Failure to thrive... ORPHA:367
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Ankle flexion contracture, Mitochondrial respiratory chain defects, ... ORPHA:319514
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy ORPHA:2348
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy ORPHA:713
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Calf muscle pse... ORPHA:79083
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Splenomegaly, Abno... ORPHA:464329
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Proteinuria, Congestive heart f... OMIM:617303
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Bradycardia, Tachycardia OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Hepatomega... ORPHA:26793
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Congestive heart failure, Hypotensi... ORPHA:31826
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hematuria, Acute kidney injury, Proteinuria, Glomerulon... ORPHA:90068
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Skeletal muscle atrophy ORPHA:330050
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:682
Leber Optic Atrophy
Myopathy OMIM:535000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, EMG: myopathic abnormalities OMIM:618822
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Myopathy, Skeletal mus... ORPHA:559
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, As... OMIM:208540
Chylomicron Retention Disease
Failure to thrive, Myopathy, EMG: myopathic abnormalities ORPHA:71
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Arthrogryposis multiplex cong... ORPHA:168572
Gitelman Syndrome
Ventricular tachycardia, Enuresis, Polyuria, Nocturia, Hypotension, Palpitations, Prolonged QT in... OMIM:263800
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave OMIM:170390
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Arrhythmia, Hydronephrosis, Hepato... OMIM:608836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Hematuria, Pericarditis ORPHA:231111
Isolated Succinate-Coq Reductase Deficiency
Skeletal myopathy, Skeletal muscle atrophy, Knee flexion contracture, Lower limb hypertonia, Dist... ORPHA:3208
Combined Oxidative Phosphorylation Deficiency 24
Facial palsy, Myopathy, Skeletal muscle atrophy OMIM:616239
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased activity of mitochondrial complex I, Myopathy, EMG: myopathic abnormalities, Decreased ... ORPHA:99901
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Perineal hypospadias, 3-Methylglutaconic aciduria, Hypoplasia of penis, P... ORPHA:66634
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy ORPHA:363400
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Gitelman Syndrome
Prolonged PR interval, Raynaud phenomenon, Renal tubular acidosis, Ventricular fibrillation, Rena... ORPHA:358
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Increased circu... ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Abnormality of the diaphragm, Type... ORPHA:171430
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration ORPHA:94089
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb-girdle muscle weakness, Myopathy, Skeletal muscle atrophy, Limb muscle weakness OMIM:112250
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Hypertension, Membranoproliferative glomerul... ORPHA:251004
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Pulmonary venous hypertension, Raynaud phenomenon, Mediastinal lym... ORPHA:79128
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Weakness of facial musculature, Myopathy, Skeletal muscle atrophy ORPHA:98673
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, EMG: m... ORPHA:502423
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Gastrointestinal... OMIM:276700
Glycogen Storage Disease Xii
Myopathy OMIM:611881
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Increased intramyocellul... ORPHA:98907
Mitochondrial Trifunctional Protein Deficiency
Small for gestational age, Failure to thrive, Rhabdomyolysis, Myopathy OMIM:609015
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber p... ORPHA:98915
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Increased muscle lipid content, Rhabdomyolysis, Muscle fiber atrophy ORPHA:228302
Neutral Lipid Storage Myopathy
Foot dorsiflexor weakness, Hand muscle weakness, Generalized limb muscle atrophy, Myopathy, Incre... ORPHA:98908
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Torsade de pointes, Ventricular tachycardia, Hypertroph... OMIM:616878
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Prolon... ORPHA:71212
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Abnormal cardiovascul... ORPHA:168569
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Lymphadenitis, Abnormal ureter morphology, Hematur... ORPHA:449395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria... ORPHA:505248
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Caribbean Parkinsonism
EMG: myopathic abnormalities ORPHA:97355
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Abnormal morphology of musculature of pharynx, Abnormalit... ORPHA:600
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Stormorken Syndrome
Myopathy OMIM:185070
Wild Type Attr Amyloidosis