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Gene: Ghitm MGI:1913342

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
growth hormone inducible transmembrane protein
Synonyms:
PTD010,  C77840,  1010001P14Rik,  Tmbim5

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ghitm mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Decreased activity of mitochondrial complex IV, Ragged-r... OMIM:616209
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
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
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Decreased a... OMIM:500002
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... OMIM:619024
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased ac... OMIM:500013
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
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
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
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
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch... ORPHA:99013
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c... ORPHA:254864
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... OMIM:500009
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Decreased activity of mitochondrial ATP synthase complex, Limb muscle weakness, Ragged-red muscle... OMIM:609560
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitochondrial swellin... ORPHA:397744
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Combined Oxidative Phosphorylation Deficiency 6
Decreased activity of mitochondrial complex IV, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Mitochondrial hypertrophy, ... OMIM:602541
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Mitochond... OMIM:619518
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
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Combined Oxidative Phosphorylation Deficiency 28
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... OMIM:616794
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
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 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Decreased activity of mitochondrial complex III, Ragged-red muscle fibers OMIM:615159
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
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 Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Mitochondrial Complex I Deficiency, Nuclear Type 21
Decreased activity of mitochondrial complex I, Ragged-red muscle fibers, Myopathy OMIM:618242
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
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
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp... OMIM:613561
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
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
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at... OMIM:615578
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex I, De... OMIM:614096
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cal... ORPHA:263494
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling, Elevated circulating aspa... OMIM:615595
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
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakness of facial musculatur... ORPHA:352447
Combined Oxidative Phosphorylation Defect Type 27
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D... ORPHA:477774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
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
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Decrea... OMIM:619065
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
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
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
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
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
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
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Spinocerebellar Ataxia 28
Abnormal activity of mitochondrial respiratory chain, Ragged-red muscle fibers, Lower limb hypert... OMIM:610246
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Elevated circulating hepatic transaminase con... ORPHA:369840
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Mitochondrial Dna Depletion Syndrome 11
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Proximal amyotrophy, De... OMIM:615084
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... OMIM:613662
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... ORPHA:597
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Muscle fiber necrosis, F... OMIM:614399
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Decreased activity of mi... OMIM:255125
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellular lipid drople... OMIM:252011
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... OMIM:615418
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... ORPHA:329478
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Elevated circulatin... ORPHA:17
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Barth Syndrome
Abnormal mitochondrial morphology, Skeletal myopathy OMIM:302060
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni... OMIM:619334
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers... OMIM:616239
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Scapular winging,... ORPHA:254886
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th... ORPHA:298
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of... OMIM:614924
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Decreased activity of mitochondrial complex IV, Ragged-red muscl... OMIM:600462
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... ORPHA:324604
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hepatic steatosis, Fatty replace... ORPHA:52430
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
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
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, F... OMIM:248800
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Myopathy, Splenomegaly, Cirrhosis, Pancreatitis, Hepatomegaly, Abnormality of ... ORPHA:79083
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Hand muscle weakness, G... ORPHA:98908
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Myopathy, Splenomegaly, Pancreatitis, Hepatomegaly, Abnormality of skeletal mu... ORPHA:2348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Myopathy, Splenome... OMIM:611881
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
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 Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot... OMIM:619574
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Limb muscle weakness, Ragged-red muscle fibers OMIM:609286
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Mitochondrial swelling OMIM:606812
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Hypotonia-Cystinuria Syndrome
Facial palsy, Ragged-red muscle fibers OMIM:606407
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Polymyositis
Hepatomegaly, Abnormal muscle fiber morphology ORPHA:732
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating hepatic transaminase concentration, Quadriceps muscle weakness, Shoulder gir... ORPHA:254892
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 58
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra... OMIM:620451
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... OMIM:124000
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb... OMIM:300257
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
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Hepatic failure, Ragged-red muscle fibers OMIM:607426
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Overlap Myositis
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... ORPHA:206572
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Ragged-red muscle fibers, Splenomegaly, Hepatomegaly, I... OMIM:252010
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
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, 6
Increased endomysial connective tissue, Elevated circulating aspartate aminotransferase concentra... OMIM:613154
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Macroglossia, Fl... ORPHA:258
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
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
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Abnormal m... ORPHA:79102
Melas
Recurrent pancreatitis, Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Hepatic failure, Ragged-red muscle fibers ORPHA:255210
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Elevated circulating aspartate aminotransferase conce... ORPHA:2388
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ghitm

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 Ghitm.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ghitmem1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ghitmem1(IMPC)Wtsi Deletion Mice
Ghitmtm83283(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ghitmtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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