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Gene: Col6a3 MGI:88461

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating LDL cholesterol level Col6a3em1(IMPC)Kmpc HOM Early adult 3.91×10-06
decreased grip strength Col6a3em1(IMPC)Tcp HOM Early adult 2.92×10-06
enlarged urinary bladder Col6a3em1(IMPC)Tcp HOM Early adult 0.00
corneal vascularization Col6a3em1(IMPC)Kmpc HOM   Early adult 6.67×10-05
prolonged QT interval Col6a3em1(IMPC)Tcp HOM Early adult 5.85×10-05
enlarged lymph nodes Col6a3em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney Col6a3em1(IMPC)Tcp HOM Early adult 0.00
abnormal cholesterol homeostasis Col6a3em1(IMPC)Kmpc HOM Early adult 4.81×10-05
decreased body length Col6a3em1(IMPC)Tcp HOM Early adult 1.42×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

94 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

8 Images

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Histopathology

Images

5 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Dystonia 27
Torticollis OMIM:616411
Primary Dystonia, Dyt27 Type
ORPHA:464440

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
Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy OMIM:212160
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Decreased activity of mitochondrial complex IV, Ragged-r... OMIM:616209
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitochondrial swellin... ORPHA:397744
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy, Decreased activity of mitochondrial respiratory chain OMIM:613076
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased ac... OMIM:500013
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Decreased a... OMIM:500002
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Mitochondrial hypertrophy, ... OMIM:602541
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Decreased activity of mitochondrial complex I, Myopathy OMIM:618246
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Mitochond... OMIM:619518
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo... OMIM:619216
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... ORPHA:399081
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Decreased activity of mitochondrial complex I, Fatty replacement of skeletal muscle, Decreased ac... OMIM:255100
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Foot d... ORPHA:399103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Mitochondrial Complex I Deficiency, Nuclear Type 21
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Myopathy OMIM:618242
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy OMIM:614369
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... OMIM:619024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Facial pals... OMIM:300580
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... ORPHA:254864
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Carpal Tunnel Syndrome 1
Digital flexor tenosynovitis OMIM:115430
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... OMIM:611307
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Myopathy, Generalized amyotrophy OMIM:618323
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Leber Hereditary Optic Neuropathy
Mitochondrial respiratory chain defects, Myopathy ORPHA:104
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... ORPHA:597
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Hypercholesterolemia OMIM:608320
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Decreased activity of mitochondrial ATP synthase complex, Limb muscle weakness, Ragged-red muscle... OMIM:609560
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Decrea... OMIM:619065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Angina pectoris, Hypercholesterolemia, Hypertriglyceride... OMIM:614025
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy ORPHA:91130
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Decreased activity of mitochondrial complex I, Myopathy OMIM:618237
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... OMIM:248800
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... OMIM:603511
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... OMIM:619902
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch... ORPHA:99013
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... OMIM:619542
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Flexion contracture, Facial palsy... OMIM:301830
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... OMIM:616052
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Mitochondrial Complex I Deficiency, Nuclear Type 14
Decreased activity of mitochondrial complex I, Myopathy OMIM:618236
Combined Oxidative Phosphorylation Deficiency 6
Decreased activity of mitochondrial complex IV, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Decreased activity of mitochondrial complex III, Ragged-red muscle fibers OMIM:615159
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:157973
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Muscl... OMIM:614399
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Decreased activity of mi... OMIM:255125
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... OMIM:500009
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex I, De... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of ... OMIM:613818
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Left... OMIM:163800
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154275
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Combined Oxidative Phosphorylation Deficiency 28
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... OMIM:616794
Congenital Myopathy 16
Flexion contracture, EMG: myopathic abnormalities, Scapular winging OMIM:618524
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy ORPHA:369840
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Calf mu... OMIM:609308
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... OMIM:619903
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... ORPHA:329478
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Proximal amyotrophy... ORPHA:370980
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154276
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy ORPHA:263494
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... ORPHA:272
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Skeletal muscle atr... ORPHA:17
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Slender build, Myopathy, Pelvic girdle muscle weakness, Generali... OMIM:615156
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakness of facial musculatur... ORPHA:352447
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercho... OMIM:615703
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Calf muscle hypertr... OMIM:608840
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot... OMIM:619574
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Mitochondrial Complex I Deficiency, Nuclear Type 11
Decreased activity of mitochondrial complex I, Myopathy OMIM:618234
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Scapular winging,... ORPHA:254886
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... OMIM:612954
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy ORPHA:26792
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Congestive heart failure, 3-Methy... OMIM:610198
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Myopathy, Abdominal obesity OMIM:615980
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Renal amyloidosis, Protein... ORPHA:85445
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Type 1 muscle fiber predominance, Limb muscle weakness, Facial palsy, Arthrogryp... OMIM:161800
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weakness of facial musculature, ... ORPHA:254875
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Sengers Syndrome
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D... OMIM:212350
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... OMIM:615418
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Combined Oxidative Phosphorylation Defect Type 27
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D... ORPHA:477774
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... OMIM:616239
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... OMIM:620080
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy OMIM:232400
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Spinocerebellar Ataxia 28
Abnormal activity of mitochondrial respiratory chain, Ragged-red muscle fibers, Lower limb hypert... OMIM:610246
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Punctate keratitis, Keratoconjunctivitis s... OMIM:617388
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... ORPHA:263297
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle we... ORPHA:99939
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Muscle fibe... OMIM:613205
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Congenital Myopathy 24
Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance, Scapular winging OMIM:617336
Timothy Syndrome
Atrioventricular block, Cardiomegaly, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Axial Osteomalacia
Myopathy OMIM:109130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... OMIM:613561
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy OMIM:300653
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Conj... OMIM:278730
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Portal hypertension, Renal insuffic... OMIM:263200
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Peroneal muscle weakness, Calf muscle hypertrophy, H... OMIM:611588
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at... OMIM:615578
Oculogastrointestinal Muscular Dystrophy
Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellular lipid drople... OMIM:252011
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... OMIM:619461
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... OMIM:613662
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Spinocerebellar Ataxia With Epilepsy
Myopathy ORPHA:254881
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Hypercalciuria, Prolonged QT interval, Intracranial hemo... ORPHA:251274
Mitochondrial Dna Depletion Syndrome 11
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Proximal amyotrophy, De... OMIM:615084
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Adrenomyodystrophy
Failure to thrive, Myopathy ORPHA:977
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy ORPHA:166002
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Decreased plasma total carnitine, Myopathy ORPHA:42
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, M... OMIM:604377
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Calcium nephrolithiasis, Abnormal left ventricular function, Prolonged QT... ORPHA:36913
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma free carnitine, Rhabdomyolysis, Decreased plasma total carnitine, Myopathy ORPHA:228305
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ... OMIM:158310
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy ORPHA:1215
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Classic Multiminicore Myopathy
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Increased muscle lipid content, Mult... ORPHA:324604
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Aspleni... OMIM:615415
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mu... ORPHA:52430
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy OMIM:613077
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy ORPHA:713
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Combined Oxidative Phosphorylation Deficiency 33
Decreased activity of mitochondrial complex IV, Myopathy, Left ventricular hypertrophy, Decreased... OMIM:617713
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra... OMIM:258450
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Skeletal myopathy, Left ven... ORPHA:3208
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Failure to thrive, Myopathy, Weakness of facial musculature OMIM:201470
Chanarin-Dorfman Syndrome
Myopathy OMIM:275630
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Ventricular tachycardia... ORPHA:26793
Leber Optic Atrophy
Myopathy OMIM:535000
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle atrophy, Myopathy, Skeletal muscle hypertrophy ORPHA:682
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, A... ORPHA:464329
Congenital Myopathy 9A
Obesity, EMG: myopathic abnormalities OMIM:618822
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy OMIM:212140
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Failure to thrive, Myopathy, Abnormal muscle glycogen content, Flexion c... ORPHA:367
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Muscle-Eye-Brain Disease
Myopathy ORPHA:588
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Congestive heart fail... OMIM:617303
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, Ischemic st... ORPHA:90068
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Xanthinuria, Type I
Myopathy OMIM:278300
Chylomicron Retention Disease
Failure to thrive, EMG: myopathic abnormalities, Myopathy ORPHA:71
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased circulating carnitine concentration, Decreased activity of mitochondrial complex I, EMG... ORPHA:99901
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Cardiomegaly, Hydronephrosis, Arrhy... OMIM:608836
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Kid Syndrome
Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Punctate keratitis, Keratocon... ORPHA:477
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy ORPHA:363400
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Palpitations, Ventricular tachycar... OMIM:263800
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Scapular winging OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Polysplenia, Stage 5 chronic kidney disease, Portal hyper... OMIM:208540
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Drug-Induced Lupus Erythematosus
Hematuria, Prolonged QTc interval, Pericarditis ORPHA:231111
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb-girdle muscle weakness, Limb muscle weakness, Myopathy, Skeletal muscle atrophy OMIM:112250
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature ORPHA:98673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Failure to thrive, Small for gestational age, Myopathy OMIM:609015
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Prolonged QT interval, Perineal hypospadias,... ORPHA:66634
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Gitelman Syndrome
Focal segmental glomerulosclerosis, Urinary incontinence, Enuresis, Prominent U wave, Renal potas... ORPHA:358
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2... ORPHA:98915
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration ORPHA:94089
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Raynaud phenomenon, Hepatomegaly, Mediastinal lymphadenopathy, Enl... ORPHA:79128
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... OMIM:170390
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Ketonuria, Abnormal EKG ORPHA:480864
Barth Syndrome
Abnormal mitochondrial morphology, Skeletal myopathy OMIM:302060
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Myoglobinuria, Ventricular tachycardi... OMIM:616878
Caribbean Parkinsonism
EMG: myopathic abnormalities ORPHA:97355
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content OMIM:232800
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities OMIM:620326
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities ORPHA:457365
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Limb muscle weakness, Ragged-red muscle fibers OMIM:609286
Carcinoid Syndrome
Myopathy ORPHA:100093
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Corneal neovascul... ORPHA:404454
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Myoglobinuria, Prolon... ORPHA:71212
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertension, Enlar... ORPHA:251004
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Immunodeficiency 9
Failure to thrive, Myopathy OMIM:612782
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Scleromyxedema
Abnormal skeletal muscle morphology, Hypoperistalsis, Myopathy ORPHA:167635
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Nephrotic syndrome, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:505248
H Syndrome
Hepatosplenomegaly, Abnormal cardiovascular system physiology, Facial telangiectasia, Lymphadenop... ORPHA:168569
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Arteritis, Lymphadenitis, Urinary bladder inflammati... ORPHA:449395
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypertension... OMIM:615812
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Elevated urinary creatine/creatinine ratio OMIM:300352
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Ischemic stroke, Astigmatism, Corneal neov... OMIM:175780
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Optic Atrophy 11
Increased variability in muscle fiber diameter, Facial diplegia, Fiber type grouping OMIM:617302
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertroph... OMIM:276700
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Fumarase Deficiency
Mitochondrial swelling OMIM:606812
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Cystinosis
Failure to thrive, Myopathy ORPHA:213
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Urinary retention, Palpitations, Shortened PR interval, Dec... ORPHA:79102
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Mcleod Syndrome
Rhabdomyolysis, Myopathy OMIM:300842
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased intramy... ORPHA:502423
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscl... OMIM:600462
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Polysplenia, Bundle branch block, Sple... ORPHA:373
Neutral Lipid Storage Disease With Ichthyosis
Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Myopathy, Shoulder girdl... ORPHA:98907
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Xp21 Deletion Syndrome
Myopathy, Calf muscle hypertrophy, Decreased muscle mass ORPHA:261476
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Rhabdomyolysis, Decreased plasma total carnitine, Myopathy ORPHA:157
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Abnormality of the mitochondrion, Fa... ORPHA:254892
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Failure to thrive, Pectoralis hypoplasia,... OMIM:254940
Galactokinase Deficiency
Cataract, Nuclear cataract, Hypercholesterolemia, Increased level of galactitol in plasma, Hyperg... ORPHA:79237
Idiopathic Camptocormia
Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Fatty replacement of... ORPHA:1320
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
22Q11.2 Deletion Syndrome
Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Corneal neovascularization, Hypocalce... ORPHA:567
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb... OMIM:300257
Immunodeficiency 10
Myopathy OMIM:612783
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Facial palsy, Skeletal muscle atrophy, Myopathy ORPHA:1358
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Polysplenia, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Macro... OMIM:613150
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Combined Oxidative Phosphorylation Deficiency 11
Myopathy OMIM:614922
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Leigh Syndrome
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Multiple joint contractu... ORPHA:506
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Stormorken Syndrome
Myopathy OMIM:185070
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Hereditary Xanthinuria
Myopathy ORPHA:3467
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Acute kidney injury, Sinus tachycardia, Oliguria, Abnormal ... ORPHA:466650
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:252500
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C... ORPHA:371364
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Recurrent urinary tract infections, H... ORPHA:731
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
45,X/46,Xy Mixed Gonadal Dysgenesis
Horseshoe kidney, Chordee, Penoscrotal hypospadias, Micropenis, Urogenital sinus anomaly, Abnorma... ORPHA:1772
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Failure to thrive, Myopathy OMIM:615512
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy OMIM:159400
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Localized Scleroderma
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:90289
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Cataract, Gastroi... ORPHA:247598
Congenital Myopathy 17
Failure to thrive in infancy, Distal arthrogryposis, Myopathy, Diaphragmatic eventration OMIM:618975
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, An... ORPHA:412
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Failure to thrive in infancy, Rhabdomyolysis, Skeletal myopathy, Left... ORPHA:746
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Hepatome... OMIM:602450
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Vesicoureteral reflux, Pulmonic stenosis ORPHA:529962
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Pulmonary venous hypertension, Nephr... ORPHA:79259
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:98914
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Morgagni-Stewart-Morel Syndrome
Hypertension, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Usher Syndrome
Myopathy ORPHA:886
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Torticollis OMIM:617022
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Myopathy ORPHA:79086
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Necrotizing myopathy, Abnormality of masse... ORPHA:423
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Renovascular hypertension, Hypercholesterolemia, Dilated cardiomyopathy ORPHA:401923
Alg9-Cdg
Hypoplasia of the bladder, Tricuspid regurgitation, Abnormal renal artery morphology, Hydronephro... ORPHA:79328
Musculocontractural Ehlers-Danlos Syndrome
Myopathy, Arthrogryposis multiplex congenita, Decreased muscle mass ORPHA:2953
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D... OMIM:614924
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Horseshoe kidney, Mitral stenosis, Cardiomegaly, Hepatomegaly, Asple... OMIM:306955
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Cardiomegaly, Pr... OMIM:300855
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Myopathy, Proximal uppe... ORPHA:280365
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy, Oligozoospermia ORPHA:85450
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration, Hypertension ORPHA:79443
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:109
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:614557
Melas
Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephroblastoma, Ne... ORPHA:99880
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... ORPHA:116
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Shortened QT interval, Renal insufficiency, Nephroblastoma, Ne... ORPHA:143
Meacham Syndrome
Horseshoe kidney, Enlarged kidney, Accessory spleen OMIM:608978
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Myopathy OMIM:162300
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Intracranial hemorrhage ORPHA:86309
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Hip contractu... ORPHA:800
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Cerebral vasculitis, Recurrent urinary tract infections, Elevated urinar... OMIM:613179
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Iris transillumination ... OMIM:249310
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:528
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Mitral regurgitation, Heart murmur, Enlarg... OMIM:615873
Stromme Syndrome
Myopathy OMIM:243605
Al Amyloidosis
Gastrointestinal hemorrhage, Nephrotic syndrome, Postural hypotension with compensatory tachycard... ORPHA:85443
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Renal hypoplasia/aplasia, Hypertension, High urinary gonadotropin level, Prolon... ORPHA:99413
Mosaic Monosomy X
Horseshoe kidney, Renal hypoplasia/aplasia, Hypertension, High urinary gonadotropin level, Prolon... ORPHA:99228
Monosomy X
Horseshoe kidney, Renal hypoplasia/aplasia, Hypertension, High urinary gonadotropin level, Prolon... ORPHA:99226
Turner Syndrome
Horseshoe kidney, Renal hypoplasia/aplasia, Hypertension, High urinary gonadotropin level, Prolon... ORPHA:881
Glycerol Kinase Deficiency
Muscular dystrophy, Small for gestational age, Myopathy OMIM:307030
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Corneal neovascularization, Recurrent corneal erosions, Opacification of the corneal s... OMIM:308205
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Micropenis, Tachycardia, Patent urachus, Enlarged kidney OMIM:618280
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Portal hyperten... OMIM:278000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb muscle weakness, EMG... ORPHA:1900
Leprechaunism
Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa... ORPHA:508
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Flexion contracture, Hip contracture, Myopathy ORPHA:3042
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Absent tonsils, Lymph node hypoplasia ORPHA:276
Dextrocardia
Abnormal EKG, Abnormality of the spleen, Abnormality of the ureter, Abnormal renal morphology, T-... ORPHA:1666
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Wolfram Syndrome
Myopathy ORPHA:3463
Smith-Magenis Syndrome
Microcornea, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Cardiomegaly, Abnormality of blood ... ORPHA:860
Vici Syndrome
Left ventricular hypertrophy, Failure to thrive, Myopathy OMIM:242840
Abetalipoproteinemia
Distal lower limb muscle weakness, Failure to thrive, Myopathy ORPHA:14
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Cardiomyopathy, Polysplenia, Splenomegaly, Nephroblastoma, Hydroneph... OMIM:312870
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Myopathy OMIM:612541
Proteus Syndrome
Long penis, Pulmonary embolism, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarge... ORPHA:744
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Alpha-Mannosidosis, Infantile Form
Facial hypotonia, Macroglossia, Myopathy ORPHA:309282
Gaisböck Syndrome
Elevated diastolic blood pressure, Increased circulating renin level, Hyperuricemia, Angina pecto... ORPHA:90041
Congenital Sialidosis Type 2
Abnormal EKG, Hepatosplenomegaly, Telangiectasia, Abnormality of the kidney, Hepatomegaly ORPHA:93400
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive, Failure to thrive in infancy, Myopathy, Weight loss OMIM:219800
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia OMIM:620454
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Neurodegeneration With Brain Iron Accumulation 1
Myopathy, Decreased muscle mass OMIM:234200
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypercholesterolemia, Hype... ORPHA:363618
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Intracranial hemorrhage, H... ORPHA:231625
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:536545
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly... ORPHA:268
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Muscle fiber atrophy, Myopathy, Weight loss ORPHA:2388
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Multiple Endocrine Neoplasia Type 1
Thymoma, Shortened QT interval, Nephrolithiasis, Hypercalciuria, Hematemesis, Melena, Hypertension ORPHA:652
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Cardiomyopathy, Hypertr... ORPHA:264580
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Syncope, Orthostatic hypotens... ORPHA:230
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Lower limb muscle weakness, Left ventricular hypertrophy, Glycogen accumulatio... ORPHA:365
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Astigmatism OMIM:619471
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Hype... ORPHA:186
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
1P36 Deletion Syndrome
Obesity, Failure to thrive, Myopathy, Camptodactyly of finger ORPHA:1606
Lysosomal Acid Lipase Deficiency
Hypotension, Xanthelasma, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hy... ORPHA:275761
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Alagille Syndrome 1
Cataract, Microcornea, Band keratopathy, Axenfeld anomaly, Posterior embryotoxon, Abnormal anteri... OMIM:118450
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Dermatomyositis
Inflammatory myopathy, Myositis, Weight loss, Limb-girdle muscle weakness, EMG: myopathic abnorma... ORPHA:221
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Supravalvular aortic stenosis, Mitral regurgitation, Hyp... ORPHA:391665
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Recurrent urinary tract infections OMIM:300755
Immunodeficiency 47
Tricuspid regurgitation, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Hyperaldosteronism, Abnormal pupil morphology, Hyponatremia, Hypokalemia, ... ORPHA:534
Noonan Syndrome
Dilatation of the renal pelvis, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the spl... ORPHA:648
Williams Syndrome
Failure to thrive in infancy, Macroglossia, Obesity, Myopathy ORPHA:904
Lipodystrophy, Familial Partial, Type 7
Cataract, Pulmonary arterial hypertension, Hypercholesterolemia, Orthostatic hypotension, Develop... OMIM:606721
African Trypanosomiasis
Urinary incontinence, Second degree atrioventricular block, Third degree atrioventricular block, ... ORPHA:3385
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Corneal scarring, Elevated circulating creatine kinase... OMIM:309000
Steinert Myotonic Dystrophy
Posterior subcapsular cataract, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Pr... ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Hypoalbuminemia, Increased circulating ferritin concen... OMIM:619534
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Dystonia 27
Torticollis OMIM:616411
Primary Dystonia, Dyt27 Type
ORPHA:464440

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.

Phenotype Allele Zygosity Sex Life Stage
Skeletal muscle - MPATH pathological process term dystrophy Col6a3em1(IMPC)Tcp HOM Early adult
Skeletal muscle - MPATH pathological process term regeneration Col6a3em1(IMPC)Tcp HOM Early adult

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 Col6a3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
High levels of intracellular endotrophin in adipocytes mediate COPII vesicle supplies to autophagosome to impair autophagic flux and contribute to systemic insulin resistance in obesity. Metabolism: clinical and experimental (June 2023) Col6a3em1(IMPC)Kmpc 37302692
Type VI collagen and its cleavage product, endotrophin, cooperatively regulate the adipogenic and lipolytic capacity of adipocytes. Metabolism: clinical and experimental (November 2020) Col6a3em1(IMPC)Kmpc 33188786

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Col6a3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Col6a3em1(IMPC)Kmpc Deletion Mice
Col6a3em1(IMPC)Tcp Intra-exon deletion Mice

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