Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
titin
Synonyms:
mdm,  D830007G01Rik,  1100001C23Rik,  2310057K23Rik,  2310074I15Rik,  L56,  connectin,  shru,  D330041I19Rik,  2310036G12Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Ttn mutations

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

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

The table below shows human diseases associated to Ttn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities OMIM:608807
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Mitral valve prolapse, Weakness of fac... ORPHA:324604
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Dilated cardiomyopathy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Muscular dystrophy, limb-girdle, type 2R
Scapular winging, Muscular dystrophy, Facial palsy, Elbow flexion contracture OMIM:615325
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... OMIM:181350
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... ORPHA:263494
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... OMIM:160500
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging,... OMIM:158901
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... OMIM:612937
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... OMIM:617072
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy OMIM:609308
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Muscular dystrophy, Shoulder girdle muscle weakness OMIM:310095
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Quadriceps muscle atrophy, Calf muscle hypertrophy OMIM:613319
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... OMIM:611307
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... ORPHA:206569
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Congenital muscular dystrophy OMIM:613152
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy OMIM:602541
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Muscular Dystrophy, Scapulohumeral
Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy OMIM:615352
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myositis
Myositis OMIM:160750
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, I... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... OMIM:613818
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Ventricular hypertrophy, Muscular dystrophy, Calf muscle hypertrophy, Scapul... OMIM:601287
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, ... OMIM:612954
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... OMIM:613155
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities OMIM:608807
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Cardiomyopathy, Increased var... ORPHA:399058
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia OMIM:300696
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Ventricular septal hypertrophy OMIM:612998
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Myositis, Facial palsy, Muscular dystrophy, Flexion contracture, Scapular wi... OMIM:253600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Limb joint contracture, Facial palsy, Type 1 fibers relatively smaller th... OMIM:255310
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... OMIM:616812
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... OMIM:253700
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Palpitations, Calf muscle hypoplasia, EMG: myopathic abno... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block OMIM:613158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Arrhythmia, Elbow flexion contracture OMIM:616516
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis OMIM:611225
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy OMIM:617066
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... OMIM:619040
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy, Myositis ORPHA:565899
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Arthrog... OMIM:161800
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy OMIM:616094
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia OMIM:614302
Muscular Dystrophy, Congenital, Lmna-Related
Generalized amyotrophy, Flexion contracture, Congenital muscular dystrophy OMIM:613205
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... ORPHA:272
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Fatigue OMIM:617713
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left atrial enlargement, Hypertrophic cardiomyopathy, Left ventricular no... OMIM:619424
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, ... OMIM:607088
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Shoulder girdle muscle weakness, Scapula... OMIM:619477
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Flexion contracture OMIM:613869
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Distal Myotilinopathy
Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathic abnormalities, Distal amyotrophy, ... ORPHA:98911
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pseudohypertrophy ORPHA:62
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Generalized limb muscle atrophy, Prolonged QT interval, Congenital muscular dystrophy, Hypoglycos... OMIM:615351
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Pneumonia, Type 1 fibers relatively smaller than type 2 fibers, C... ORPHA:596
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Paget Disease Of Bone 6
Left ventricular hypertrophy, Bone pain OMIM:616833
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Left ventricular systolic dysfunction, C... OMIM:613156
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Scoliosis, Kyphosis OMIM:617087
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Congestive heart failure, Flexion con... OMIM:310200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... OMIM:608840
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Shoul... OMIM:158900
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy OMIM:615350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy OMIM:613151
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... OMIM:300257
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Mitral valve prolapse, Weakness of fac... ORPHA:324604
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Skeletal muscle hypertrophy, Flexion contracture OMIM:611588
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... ORPHA:1349
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... ORPHA:352447
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98853
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy ORPHA:369840
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... OMIM:255200
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:2926
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Mitral regurgitation, Limb muscle weakness, Achilles tendo... OMIM:617258
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Hip contracture OMIM:615959
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... OMIM:302060
Focal Myositis
Myositis ORPHA:48918
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Congestive hear... OMIM:619048
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... ORPHA:119
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease ORPHA:69126
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Dilated cardiomyopathy, Generalized amyotrophy, Facial palsy, Arrhythmia OMIM:615084
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
King-Denborough Syndrome
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... OMIM:619542
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Abnormality of jaw... ORPHA:99845
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Myopathy, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Flexion contracture OMIM:613154
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Generalized amyotrophy, Facia... OMIM:602771
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... OMIM:607155
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis ORPHA:101075
Eosinophilic Fasciitis
Arthritis, Fasciitis, Muscular edema, Myositis ORPHA:3165
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Tubulointerstitial nephritis, ... ORPHA:183
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Reduced ejection fraction, Myositis, Macroglossia, Pulmonary arteria... ORPHA:258
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia ORPHA:324588
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Periodic Fever, Familial, Autosomal Dominant
Myositis, Oligoarthritis, Gastrointestinal hemorrhage, Maculopapular exanthema, Skin rash, Erysip... OMIM:142680
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Retinal hemorrhage, Flexion contracture, Congenital c... OMIM:615368
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy OMIM:615895
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Aortic regurgitation, Pulmonary arterial hyper... ORPHA:81
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Pneumonia... ORPHA:98905
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Pericardit... ORPHA:732
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy ORPHA:459033
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis OMIM:618244
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Rimmed vacuoles, Flexion contracture, Centrally nucleated skel... OMIM:248800
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Skeletal muscle atrophy, Pustule, Myositis, Raynaud phenomenon, Malar rash, Skin ... OMIM:615934
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture OMIM:616733
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, EMG: myopathic abnormalities, Proximal spinal muscular ... ORPHA:1320
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Flexion contractu... OMIM:609285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Generalized amyotrophy, Fa... OMIM:258450
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis OMIM:300842
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Graft Versus Host Disease
Inflammatory abnormality of the skin, Skeletal muscle atrophy, Pneumonia, Stomatitis, Myositis, F... ORPHA:39812
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Cap Myopathy
Abnormal muscle fiber morphology, Mitral valve prolapse, Generalized amyotrophy, Facial palsy, Re... ORPHA:171881
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, EMG: myopa... ORPHA:263297
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
8p23.1 deletion syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal he... DECIPHER:39
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Sinusitis, Infectious encephalitis, Pneumonia, Myositis, Peritonitis, Fasciit... ORPHA:36234
Sweet Syndrome
Dilated cardiomyopathy, Inflammation of the large intestine, Predominantly dermal neutrophilic in... ORPHA:3243
Whipple Disease
Myocarditis, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Myocardial infarction, G... ORPHA:3452
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... ORPHA:169189
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle atrophy, S... OMIM:606612
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... OMIM:619574
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal muscle glycogen content, Abno... ORPHA:367
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy OMIM:615980
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy OMIM:619099
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Scoliosis, Distal amyotrophy ORPHA:3454
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myocardial infarction,... OMIM:205400
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion d... OMIM:310300
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Skeletal muscle atrophy, Flexion contracture, Myositis OMIM:619183
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Bundle branch blo... ORPHA:93672
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... OMIM:618393
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Scoliosis, Kyphosis ORPHA:101078
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Increased ... OMIM:616867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Myositis, Discoid lupus rash, Nephritis, Arthritis, Raynaud phenomenon, Mal... ORPHA:93552
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... ORPHA:496689
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Myasthenic Syndrome, Congenital, 14
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Myopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Ca... OMIM:115197
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Pulmonary arterial hypertension,... ORPHA:809
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Dilated cardiomyopathy, Muscle fiber necrosis, Increased variability in... OMIM:607459
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Punctate keratitis, Keratitis OMIM:226670
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Congenital muscular dystrophy, Facial palsy, EMG: myopathic abnormalities, Limb muscle weakness OMIM:601170
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Cardiomyopathy, Congestive... ORPHA:52430
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Ankle flexion contracture, Knee flexion contracture, Patent ductus arteriosus, Mu... OMIM:608799
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Generalized amyotrophy, Facial palsy, Congenital muscula... OMIM:254090
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy OMIM:307030
Myasthenia Gravis
Myositis, Hepatitis, Raynaud phenomenon, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Polyhydramni... ORPHA:1041
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Patent ductus arterio... OMIM:616866
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mus... OMIM:619334
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Mitral stenosis, Knee flexion contract... OMIM:619461
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... OMIM:619167
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Peritonitis, Fasciitis, Arthritis, Vasculitis, Uveitis, Skin rash, Orchit... ORPHA:32960
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Pulmonary arterial hypertensi... OMIM:615474
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... ORPHA:597
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... OMIM:271530
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... OMIM:616052
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... ORPHA:555874
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Growth delay, Ascites, Pulmonic stenosis, Pleural effusion, Hydrops fetalis ORPHA:2414
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... ORPHA:2348
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... ORPHA:79083
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... ORPHA:251274
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, ... OMIM:615355
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies OMIM:605637
Beh├žet Disease
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Gastrointestinal hemorrhage, Vascu... ORPHA:117
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Cardiomyopathy, Optic neu... ORPHA:254886
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Lambert Syndrome
Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Intrauterine ... ORPHA:1296
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy, Scoliosis, Kyphosis ORPHA:2598
Congenital Muscular Dystrophy With Cerebellar Involvement
Skeletal muscle hypertrophy, Macroglossia, Cardiomyopathy, Reduced muscle fiber alpha dystroglyca... ORPHA:370959
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Arthritis, Increased variability in muscle fiber diameter... ORPHA:397744
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Duchenne Muscular Dystrophy
Cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Flexion contracture ORPHA:98896
Pyomyositis
Sudden cardiac death, Recurrent cutaneous abscess formation, Myositis ORPHA:764
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... OMIM:167320
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation OMIM:618052
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Pulmonary arterial hypertension, Right ventricular hypertrophy OMIM:268500
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Rhabdomyolysis, Arrhythmia OMIM:609015
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Cong... ORPHA:99901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Facial palsy, EMG: myop... OMIM:164310
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant