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Gene: Trim63 MGI:2447992

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tripartite motif-containing 63
Synonyms:
Rnf28,  MuRF1

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 Trim63 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 Trim63 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease 0, Muscle
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... OMIM:611556
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... OMIM:618655
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Mitral valve prolapse, Myofiber disarray, Left ventricular hypertrophy OMIM:614676
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Cardiomyopathy, Fatty... OMIM:301075
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased variability in muscle fiber diameter OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Muscle fiber necro... OMIM:618848
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Muscle fiber pol... OMIM:616199
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, I... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty ... OMIM:608807
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... OMIM:618654
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... OMIM:271150
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... ORPHA:178464
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Dilated cardiomyopathy, Left ventric... OMIM:615248
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Nonaka Myopathy
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... OMIM:605820
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... OMIM:615424
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ... ORPHA:609
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... OMIM:619733
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Dilated cardiomyopathy, Increased variability in muscle fiber diameter OMIM:611615
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Cardiomyopathy, Flexion contracture of finger, Increased endom... ORPHA:206549
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber ... ORPHA:399058
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Cardiomyopathy, Scapular winging, Centrally nu... OMIM:612999
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy, EMG: myopathic abnormalities, Distal upp... ORPHA:603
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of facial musculature, Z-band s... OMIM:181400
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... OMIM:617760
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Fatty replace... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... OMIM:300696
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... ORPHA:206546
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Hip contracture,... OMIM:619042
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... OMIM:613204
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, Dilated cardiomyopathy,... OMIM:300718
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... OMIM:108900
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Increased vari... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... OMIM:254110
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
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
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... OMIM:619178
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Myasthenic Syndrome, Congenital, 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... OMIM:616228
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variabili... OMIM:300717
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Facial palsy, Dilated cardiomyopathy, Type 1 fibers relative... OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Hypertrophic c... OMIM:608751
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... OMIM:160565
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... OMIM:616313
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Myocardial fibrosis, Left ventricular hypertrophy OMIM:613873
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Abnormal muscle fiber protein expres... ORPHA:488650
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Incre... OMIM:618414
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613697
Congenital Myopathy 18
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... OMIM:620246
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... OMIM:619040
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... OMIM:616924
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... ORPHA:353
Loeffler Endocarditis
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... ORPHA:75566
Nemaline Myopathy 2
Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ... OMIM:256030
Oculopharyngodistal Myopathy 3
Distal amyotrophy, Weakness of facial musculature, Increased endomysial connective tissue, Rimmed... OMIM:619473
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... OMIM:603689
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter OMIM:614096
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy ORPHA:270
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion bodies, Cong... OMIM:605637
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613838
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy OMIM:619048
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... OMIM:614302
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem... OMIM:619790
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... ORPHA:437572
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased variability in muscle fiber di... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... OMIM:618138
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Muscle fiber splitting, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathi... OMIM:609452
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... ORPHA:85451
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:601494
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Camptodactyly, Left atrial enlargement, Left ventricular hypertrophy, Cardi... OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Faci... OMIM:613156
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Type 1 muscle fiber predominance, ... ORPHA:171439
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... OMIM:617066
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ... OMIM:608758
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... OMIM:620138
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,... ORPHA:97240
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Abnormal heart v... ORPHA:169186
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy OMIM:616733
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, EMG: myopathic abnormalities, Facial palsy, Muscle fiber necrosis, Incre... OMIM:614399
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abnormal muscle fiber morpho... ORPHA:75840
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Patent fora... OMIM:616867
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:613954
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Hepatomegaly, Biventricul... OMIM:619424
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro... OMIM:617228
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... ORPHA:3208
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... OMIM:617114
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Cardiomyopathy... ORPHA:401768
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... OMIM:255320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Flexion contracture of finger, Increased endomysial connective ti... OMIM:618484
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... OMIM:602771
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... OMIM:616812
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Tangier Disease
Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Hepatomegaly, Splenomegaly OMIM:205400
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Limb joint cont... OMIM:255310
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventricular septal bulge, At... OMIM:612098
Noonan Syndrome 8
Pulmonic stenosis, Atrial septal defect, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Congenital Aortic Valve Stenosis
Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Aortic valve atresia, Aortic... ORPHA:3093
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Left ventricular hypertrophy ORPHA:217607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Abnormal muscle fiber morph... ORPHA:598
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Right ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:444013
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nucleated skeletal mus... ORPHA:596
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Abnormal muscle fiber morphology, Facial palsy... ORPHA:171881
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Left ventricular noncompaction, Hepatomegaly, Patent foramen ovale,... OMIM:619167
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr... ORPHA:486815
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... OMIM:618619
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Cln3 Disease
Left ventricular hypertrophy ORPHA:228346
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... OMIM:615422
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Cardi... OMIM:616866
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Shoulder flexion... ORPHA:536516
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Weakness of facial musculature, Cardiomyopathy, Muscle fiber atrophy, Skeletal muscle atrophy, EM... OMIM:258450
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Patent foramen ovale, Biventricular hypertrophy, Ventricular septal... OMIM:615474
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Facial palsy, Congenit... OMIM:254090
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Knee flexion contracture, Subvalvular aortic stenosis, Ankle flex... OMIM:619461
Peripartum Cardiomyopathy
Myocarditis, Left atrial enlargement, Left ventricular hypertrophy, Abnormal cardiac atrium morph... ORPHA:563
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Rimmed vacuol... ORPHA:52430
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Cardiac Diverticulum
Mitral stenosis, Diastasis recti, Dextrocardia, Abnormality of the diaphragm, Partial anomalous p... ORPHA:1686
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy ORPHA:251274
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Fatty replacement of skeletal... ORPHA:397744
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Central... OMIM:606070
Familial Partial Lipodystrophy, Dunnigan Type
Myopathy, Skeletal muscle hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, A... ORPHA:2348
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomega... ORPHA:308552
Pparg-Related Familial Partial Lipodystrophy
Myopathy, Skeletal muscle hypertrophy, Hepatomegaly, Calf muscle pseudohypertrophy, Hypertrophic ... ORPHA:79083
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Aortic valve stenosis, Left ventricular hypertrophy OMIM:619698
Typical Nemaline Myopathy
Facial diplegia, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Facial palsy, Foot ... ORPHA:171436
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Right ventricul... OMIM:612949
Danon Disease
Lower limb amyotrophy, Cardiomegaly, EMG: myopathic abnormalities, Myocardial necrosis, Dilated c... OMIM:300257
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Left ventricular hypertrophy, Lower limb muscle weakness, Skeletal myopathy, Card... ORPHA:746
Cardiac-Valvular Ehlers-Danlos Syndrome
Left ventricular hypertrophy, Atrial septal defect, Abnormal heart valve morphology, Mitral valve... ORPHA:230851
Lethal Congenital Contracture Syndrome 10
Macroglossia, Torticollis, Ventricular septal defect, Overriding aorta, Increased variability in ... OMIM:617022
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Hepatomegaly, Myofiber disarray, Increased variability in muscle fiber diameter, Hypert... OMIM:604377
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy ORPHA:320
Noonan Syndrome 10
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy,... OMIM:616564
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... ORPHA:860
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Increased variability in muscle fiber diameter OMIM:619026
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Left ventricular hypertrophy, Hepatomegaly, Lower limb hypertonia, Pericardia... OMIM:619487
Laubry-Pezzi Syndrome
Subarterial ventricular septal defect, Left ventricular hypertrophy, Ventricular septal defect, P... ORPHA:99094
Carnitine Deficiency, Systemic Primary
Myopathy, Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Reduced muscle... OMIM:212140
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... ORPHA:555874
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy ORPHA:90065
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Neuraminidase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256550
Fabry Disease
Ventricular septal hypertrophy, Left ventricular hypertrophy OMIM:301500
Optic Atrophy 11
Fiber type grouping, Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter OMIM:617302
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Small thenar eminence, Pulmonic stenosis, Left ventricular hypertrophy OMIM:619148
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy, Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular s... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Aortic Arch Interruption
Left ventricular hypertrophy, Ventricular septal defect, Aortopulmonary window, Abnormal heart mo... ORPHA:2299
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Fiber type grouping, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Scapular ... OMIM:607459
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly ORPHA:42
Autosomal Dominant Progressive External Ophthalmoplegia
Shoulder girdle muscle weakness, Facial diplegia, Hypomimic face, Left ventricular hypertrophy, M... ORPHA:254892
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Scapular winging, Right vent... ORPHA:268
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Increased variability in muscle fiber diameter OMIM:615595
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Mucolipidosis Type Ii
Hepatosplenomegaly, Diastasis recti, Left ventricular hypertrophy, Cardiomyopathy, Abnormal mitra... ORPHA:576
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy ORPHA:31150
Myopathy With Lactic Acidosis, Hereditary
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy, Increased variability in muscle fiber diameter... OMIM:255125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, EMG: myopathic abnormalities, Facial palsy, Muscle fiber... OMIM:157640
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:618652
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy OMIM:617168
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Limb muscle weakness OMIM:266500
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Left ventricular hypertrophy, Lower limb muscle weakness, Hepatomegaly, EMG: myopat... ORPHA:365
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Hepatomegaly, Centrally nucleated skeletal muscl... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Distal amyotrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right ventricular dilatation, Left atrial enlargement, Left ventricular... ORPHA:99106
Mulibrey Nanism
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction OMIM:253250
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy OMIM:619051
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Contractures of the large joints, Abn... ORPHA:324410
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Glycogen Storage Disease Xii
Muscle fiber splitting, Myopathy, Hepatomegaly, Increased variability in muscle fiber diameter, S... OMIM:611881
Vici Syndrome
Myopathy, Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Dilated cardiomyopathy OMIM:242840
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Native American Myopathy
Camptodactyly, Muscle fiber atrophy, Skeletal muscle atrophy, Congenital contracture, Arthrogrypo... ORPHA:168572
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:601005
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Weakness of facial musculature, Increased muscle glycogen content, EMG: myopathic abnormalities, ... ORPHA:502423
Hemochromatosis, Type 1
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:235200
Fabry Disease
Left ventricular hypertrophy, Abnormal myocardium morphology, Hypertrophic cardiomyopathy, Abnorm... ORPHA:324
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly OMIM:268800
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Short femur, Hypertrophic cardiomyopathy, Flexion contracture, Cardiom... OMIM:616897
Myasthenic Syndrome, Congenital, 19
Facial palsy, Increased variability in muscle fiber diameter OMIM:616720
Fucosidosis
Decreased muscle mass, Cardiomegaly, Hepatomegaly ORPHA:349
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Skeletal muscle atrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Short femur, ... ORPHA:17
Cranioectodermal Dysplasia 2
Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Patent foramen ovale, Splenomegaly OMIM:613610
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Left ventricular hypertrophy, Abnormal left ventricle morphology, Ventricul... ORPHA:466791
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Glycogen Storage Disease Ii
Macroglossia, Increased muscle glycogen content, Hepatomegaly, Firm muscles, Cardiomegaly, Spleno... OMIM:232300
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Hepatomegaly, Mitral valve calcification, Patent foramen ovale, Fle... OMIM:619127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased ... OMIM:613150
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Limb muscle weakness OMIM:619259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter OMIM:616538
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly ORPHA:99931
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly ORPHA:465508
Craniofaciofrontodigital Syndrome
Macroglossia, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, B... ORPHA:363705
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Patent foramen ovale, Elbow flexion contracture ORPHA:96149
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Enlarged kidney, Myopathy, Increased myocardial glycogen content, Cardiomyopathy, B... OMIM:261740
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Hepatomegaly, Primum atrial septal defect, Complete atriovent... ORPHA:1329
Fontaine Progeroid Syndrome
Hypoplasia of the abdominal wall musculature, Atrial septal defect, Left ventricular hypertrophy,... OMIM:612289
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:306955
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonic stenosis, Ventricular septal... OMIM:602782
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Left ventricular hypertrophy, Mitral atresia, Aortic valve atresia, Bicuspid aortic valve, Hypert... OMIM:220111
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:614921
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Fucosidosis
Macroglossia, Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly OMIM:230000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Knee flexion contracture, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, El... OMIM:608836
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomegaly, Cardiomyopathy ORPHA:158687
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Small hypothenar eminence ORPHA:2463
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Arthrogryposis multiplex congenita, Cardiomegaly, Splenomegaly OMIM:608013
Aneurysm-Osteoarthritis Syndrome
Pulmonic stenosis, Camptodactyly of finger, Abnormal heart morphology, Left ventricular hypertrophy ORPHA:284984
Developmental And Epileptic Encephalopathy 95
Macroglossia, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita, Multiple joint cont... OMIM:618143
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Loeys-Dietz Syndrome 3
Camptodactyly, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defect, Ventricular... OMIM:613795
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancr... OMIM:130650
Truncus Arteriosus
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Abnormal... ORPHA:3384
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Camptodactyly, Enlarged kidney, Hepatomegaly, Hypertrophic cardiom... OMIM:252500
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomyopathy, Cardiomegaly, Hepatomegaly ORPHA:228308
Mucopolysaccharidosis Type 3
Macroglossia, Abnormal mitral valve morphology, Hepatomegaly, Abnormal aortic valve morphology, A... ORPHA:581
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Abnormal cardiac septum morphology, Lower limb hypertonia, C... ORPHA:97297
Abetalipoproteinemia
Myopathy, Cardiomegaly, Hepatomegaly, Distal lower limb muscle weakness ORPHA:14
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncom... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Leiomy... ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Skeletal muscle atrophy, Hepat... OMIM:256040
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Ogden Syndrome
Secundum atrial septal defect, Torticollis, Enlarged kidney, Ventricular septal defect, Atrial se... OMIM:300855
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy, Multiple joint contractures, Myositis ORPHA:51
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:137675
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve steno... OMIM:182250
Williams Syndrome
Macroglossia, Pulmonic stenosis, Myopathy, Tetralogy of Fallot, Ventricular septal defect, Atrial... ORPHA:904
Liver Disease, Severe Congenital
Left atrial enlargement, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Subvalvul... OMIM:619991
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cardiomyopathy, Cardiomegaly ORPHA:3472
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy ORPHA:51608

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 Trim63

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 Trim63.

No publications found that use IMPC mice or data for Trim63.

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MGI Allele Allele Type Produced
Trim63tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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