Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... |
OMIM:619477 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myalgia, Inflammatory myopathy, Skele... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Cervical Cancer |
|
Neoplasm, Cervix cancer |
OMIM:603956 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... |
OMIM:158600 |
Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... |
ORPHA:178400 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Exe... |
OMIM:500002 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Exercise intolerance, Ragged-red muscle fibers, Facial p... |
OMIM:616209 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature, Exercise intolerance, ... |
ORPHA:457050 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Myalgia, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar m... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Back pain, Achilles tendon contracture, EMG: myop... |
OMIM:300696 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Skeletal muscle atrophy, Exercise intolerance, Limb muscle weakness |
OMIM:609273 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... |
ORPHA:276435 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Exercise intolerance, Ragged-red muscle fibers, EMG: myopathic abnormalities |
OMIM:609283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Tuberculosis |
|
Abnormal lung morphology, Fatigue |
ORPHA:3389 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... |
OMIM:620068 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Myopathy, Centronuclear, 4 |
|
Myalgia, Exercise intolerance, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pr... |
OMIM:614807 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr... |
ORPHA:254361 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
Nemaline Myopathy 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy |
OMIM:616471 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl... |
OMIM:123320 |
Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... |
OMIM:612937 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... |
OMIM:254130 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Recurrent respiratory infections, Type 1 fibers relat... |
ORPHA:596 |
Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy |
ORPHA:309169 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... |
OMIM:160150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617069 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... |
ORPHA:424107 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... |
ORPHA:598 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Hip pain, Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyot... |
OMIM:167320 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... |
OMIM:608358 |
Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... |
OMIM:617114 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Pul... |
OMIM:616867 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Chest pain, Rimmed va... |
ORPHA:263494 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Abdominal pain, Ragged-red muscle fibers, Fatigue |
OMIM:616794 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... |
OMIM:300580 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Nemaline Myopathy 4 |
|
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... |
OMIM:609285 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Pulmonary hypoplasia |
OMIM:614096 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... |
OMIM:618823 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... |
ORPHA:171439 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema |
OMIM:130700 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... |
OMIM:610099 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Immune-Mediated Necrotizing Myopathy |
|
Abnormal pulmonary interstitial morphology, Muscle fiber necrosis, Myositis, EMG: myopathic abnor... |
ORPHA:206569 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Emphysema, Exercise intolerance, Abnormal lung morphology, Right ventric... |
ORPHA:70589 |
Nemaline Myopathy 5 |
|
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
Bronchogenic Cyst |
|
Back pain, Abnormal pleura morphology, Pulmonary cyst, Abdominal pain, Pneumonia, Abnormality of ... |
ORPHA:2357 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Skelet... |
OMIM:620011 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... |
OMIM:619903 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... |
OMIM:616726 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu... |
OMIM:500009 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Macroglossia, Myalgia, Calf muscle pseudohypertrophy, Skeletal muscl... |
ORPHA:352479 |
Distal Myotilinopathy |
|
Distal amyotrophy, Abnormal muscle fiber myotilin, Multiple joint contractures, EMG: myopathic ab... |
ORPHA:98911 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:619466 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Generalized amyotrophy, Recurrent infections due to aspiration, Type 1 muscle fiber atrophy, Type... |
OMIM:617519 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:602771 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Bronchiectasis |
OMIM:615294 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles |
OMIM:609452 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
Central Core Disease |
|
Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... |
ORPHA:597 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Myalgia, Exercise intolerance, Ragged-red muscle fibers |
OMIM:619024 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture |
OMIM:607855 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
Neuronopathy, Distal Hereditary Motor, Type X |
|
Bronchiectasis, Tendon rupture, Distal lower limb muscle weakness, Scapular winging, Fiber type g... |
OMIM:620080 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... |
ORPHA:353327 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... |
ORPHA:79126 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... |
ORPHA:1145 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Back pain, Fatty replacement of skeletal muscle, Bowel incontinence, Weakne... |
ORPHA:329478 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent respiratory infections, Atele... |
OMIM:615067 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Myopathy, Increased muscle lipid content, Increased muscle glycogen content, Ragged... |
ORPHA:254864 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... |
OMIM:616866 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 muscle fiber atrophy, L... |
OMIM:603034 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Myalgia,... |
OMIM:615418 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
Sarcoidosis, Susceptibility To, 2 |
|
Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Emphysema, Pleural effu... |
OMIM:612387 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Centrally nucleated ... |
OMIM:255310 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Recurrent lower respiratory t... |
OMIM:617258 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... |
ORPHA:119 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, ... |
OMIM:609560 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Weakness of facial musculature, Exercise-induced myalgia, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:618416 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Halitosis, Emphysema, Chest pain, Recurrent lower re... |
ORPHA:60033 |
Intermediate Nemaline Myopathy |
|
Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies, Type 1 muscl... |
ORPHA:171433 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Facial palsy |
OMIM:617336 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized amyotrophy, EMG... |
OMIM:258450 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... |
OMIM:255160 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:98855 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Myalgia, Exercise intolerance, Chest pain, Ragged-red muscle fibers, Fatigue |
ORPHA:1349 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
Polymyositis |
|
Abnormal pulmonary interstitial morphology, Abnormal muscle fiber morphology, Abdominal pain, Art... |
ORPHA:732 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Muscle fiber atrophy, Facial palsy, Myopathy, Exercise intolerance, Scapular winging, Ragged-red ... |
ORPHA:254886 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscle atrophy, Type 2 muscle fib... |
OMIM:601462 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... |
ORPHA:171881 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers, Atelectasis |
OMIM:300219 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Chest tightness, Subpleural honeycombing, Lung adenoc... |
ORPHA:2302 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Hip pain, Fatty replacement of skeletal muscle, G... |
ORPHA:52430 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... |
OMIM:252011 |
Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Recurrent respiratory infections, Chest tightness, Recurrent pneumonia, Pneumonia, Ch... |
ORPHA:3348 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Pain |
ORPHA:477774 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Spastic Paraplegia Type 7 |
|
Lower limb pain, Lower limb muscle weakness, Upper limb muscle weakness, Ragged-red muscle fibers... |
ORPHA:99013 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:98863 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... |
OMIM:181405 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Exercise intolerance, Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:98853 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Exercise intolerance, Recurrent lower respiratory... |
OMIM:616720 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
ORPHA:171436 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Centrally nucleated skeletal muscle fibers, Abnormality of the foot muscula... |
ORPHA:169189 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Arthrogryposis mu... |
ORPHA:178148 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps weakness, We... |
ORPHA:98913 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Exercise intolerance, Proximal amyotrophy, Ragged-red muscle fibers, Faci... |
OMIM:615084 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... |
ORPHA:324604 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Pulmonary hypoplasia, Type 1 muscle fiber predominance, Facial diplegia, Nem... |
ORPHA:171430 |
Myopathy, Centronuclear, 2 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... |
OMIM:255200 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Emphysema, Chest... |
ORPHA:79127 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type 1 muscle fiber predominanc... |
OMIM:619542 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Abdominal pain, Ragged-red muscle fibers |
OMIM:613662 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers |
OMIM:540000 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Myalgia, EMG: myopathic abnormalities, Exercise intolerance, Limb muscl... |
OMIM:609286 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myalgia, Myopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy |
ORPHA:2348 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... |
OMIM:255125 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pneumonia, Atelectasis, Pulmonary edema |
ORPHA:70587 |
Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Myalgia, Calf muscle pseudohypertrophy, Myopathy, Skel... |
ORPHA:79083 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Night sweats, Asthenia, Arthralgia, Pleural effusion, Hypersensitivity pneumonitis, Atelectasis |
ORPHA:2902 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Emphysema |
OMIM:604571 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Muscle fiber atrophy, Myalgia, Exercise intolerance, Increased muscle lipid conte... |
ORPHA:228302 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Lower limb muscle weakness, Myalgia, Exercise intolerance, Skeletal muscle atrophy, Ragged-red mu... |
OMIM:616479 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Muscle fiber necrosis, EMG: myopa... |
OMIM:157640 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Myopathy, Centronuclear, 5 |
|
Weakness of facial musculature, Hip contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... |
ORPHA:169186 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Weakness of facial musculature, Myopathy, Exercise intolerance, Ragged-re... |
ORPHA:352447 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper limb amyotroph... |
ORPHA:600 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Abnormal lung mor... |
ORPHA:60032 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Atelectasis |
ORPHA:896 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Overlap Myositis |
|
Abnormal pulmonary interstitial morphology, Perifascicular muscle fiber atrophy, Limb pain, Const... |
ORPHA:206572 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... |
OMIM:612949 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Night sweats, Triceps weakness, Intrinsic hand muscle... |
OMIM:619574 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Myopathy, Skeletal muscle atroph... |
OMIM:248800 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myalgia, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... |
OMIM:619461 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Congenital muscular dystrophy, Mac... |
ORPHA:258 |
Meconium Aspiration Syndrome |
|
Aspiration pneumonia, Pneumothorax, Atelectasis |
ORPHA:70588 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
Optic Atrophy 11 |
|
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Torticollis, Macroglossia, Pulmonary hypoplasia |
OMIM:617022 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Chylothorax, Type 2 muscle fiber a... |
OMIM:619036 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower lim... |
OMIM:500013 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy |
ORPHA:3068 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:604377 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Cystic pattern on pulmonary HRCT, El... |
OMIM:610978 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, EMG: m... |
ORPHA:502423 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Chédiak-Higashi Syndrome |
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Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Decreased muscle mass, Abdominal pain, Foot dorsiflexor weakness, Abnormality of the extraocular ... |
ORPHA:298 |
Primary Ciliary Dyskinesia |
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Respiratory tract infection, Bronchiectasis, Peribronchovascular interstitial thickening, Recurre... |
ORPHA:244 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Skeletal muscle atrophy, Weakness of facial musculature, Myopathy, Ragged-red muscle fibers |
OMIM:616239 |
Native American Myopathy |
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Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Skeletal muscle a... |
ORPHA:168572 |
Glycogen Storage Disease Xv |
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Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Scapular winging, Exercise intolerance, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
Snakebite Envenomation |
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Pain, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Increased variability in muscle fiber diameter |
OMIM:615595 |
Ehlers-Danlos Syndrome, Classic-Like |
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Proximal amyotrophy, Muscle fiber splitting, Arthralgia |
OMIM:606408 |
Lethal Congenital Contracture Syndrome 5 |
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Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture |
OMIM:615368 |
Myopathy, Mitochondrial, And Ataxia |
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Myalgia, Distal amyotrophy, Increased variability in muscle fiber diameter |
OMIM:617675 |
Juvenile Amyotrophic Lateral Sclerosis |
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Retrocollis, Lower-limb joint contracture, Urinary incontinence, Muscle fiber atrophy, Skeletal m... |
ORPHA:300605 |
Fanconi Renotubular Syndrome 5 |
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Pulmonary fibrosis, Lung adenocarcinoma, Emphysema |
OMIM:618913 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Flexion contracture, Lower limb muscle weakness, Glycogen accumulati... |
ORPHA:365 |
Farber Disease |
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Flexion contracture, Nodular pattern on pulmonary HRCT, Arthralgia, Recurrent upper respiratory t... |
ORPHA:333 |
Hypotonia-Cystinuria Syndrome |
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Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Danon Disease |
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Generalized amyotrophy, EMG: myopathic abnormalities, Myocardial necrosis, Exercise intolerance, ... |
OMIM:300257 |
Lymphangioleiomyomatosis |
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Pneumothorax, Recurrent respiratory infections, Abdominal pain, Emphysema, Chylothorax, Chest pai... |
ORPHA:538 |
Congenital Myasthenic Syndrome |
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Limb-girdle muscle weakness, Muscle fiber atrophy, Recurrent respiratory infections, EMG: myopath... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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Limb-girdle muscle weakness, Muscle fiber atrophy, Recurrent respiratory infections, EMG: myopath... |
ORPHA:98914 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Decreased level of coenzyme Q10 in skeletal muscle, Fatigue, Ragged-red muscle fibers |
OMIM:607426 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Congenital diaphragmatic hernia, Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Oculopharyngodistal Myopathy 1 |
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Increased variability in muscle fiber diameter, Autophagic vacuoles, EMG: myopathic abnormalities... |
OMIM:164310 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Morgagni diaphragmatic hernia, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Posterolater... |
OMIM:613177 |
Genetic Recurrent Myoglobinuria |
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Lower limb muscle weakness, Abnormality of jaw muscles, Viral infection-induced rhabdomyolysis, M... |
ORPHA:99845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Increased variability in muscle fiber diameter, Muscular dystrophy, Macroglossia, Skeletal muscle... |
OMIM:613150 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Muscular dystrophy, Increased variability in muscle fiber diameter |
OMIM:616538 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Increased in... |
ORPHA:17 |
Congenital Fiber-Type Disproportion Myopathy |
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Knee flexion contracture, Flexion contracture, Hip contracture, Aspiration pneumonia, Elbow flexi... |
ORPHA:2020 |
Glycogen Storage Disease Xii |
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Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy |
OMIM:611881 |
Liver Disease, Severe Congenital |
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Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent pneumonia, Recurrent bronchopulmonary infections, Bronchiectasis, Emphysema |
OMIM:242700 |
Autosomal Dominant Hyper-Ige Syndrome |
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Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Neutral Lipid Storage Myopathy |
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Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, Increased intramyocellular... |
ORPHA:98908 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Shoulder girdle muscle weakness, Left ventricular hypertrophy, Hypomimic face, EMG: myopathic abn... |
ORPHA:254892 |
Neuromuscular Oculoauditory Syndrome |
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Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... |
OMIM:618733 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Elbow flexion contracture, EMG: myopathi... |
ORPHA:1900 |
Myasthenia, Limb-Girdle, Autoimmune |
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Proximal amyotrophy, Type 2 muscle fiber atrophy |
OMIM:159400 |
Whim Syndrome |
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Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Recurrent upper respiratory tra... |
ORPHA:51636 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Lujo Hemorrhagic Fever |
|
Rigors, Abdominal cramps, Myalgia, Chest pain, Atelectasis |
ORPHA:319213 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Skeletal myopathy, Abnormality of the calf musculature, Abnormality of the shoulder girdle muscul... |
ORPHA:565612 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:613154 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Repeated pneumothoraces, Torticollis, Pulmonary hypoplasia, Atelectasis |
ORPHA:536467 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Allodynia, Abdominal pain, Abdominal cramps, Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
Common Variable Immunodeficiency |
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Recurrent respiratory infections, Bronchiectasis, Recurrent bronchitis, Arthralgia, Emphysema, Pn... |
ORPHA:1572 |
Zygomycosis |
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Acute infectious pneumonia, Pneumothorax, Abdominal pain, Pain, Pleural effusion, Chest pain, Ate... |
ORPHA:73263 |
Thyrotoxic Periodic Paralysis |
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Rhabdomyolysis, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lowe... |
ORPHA:79102 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Ragged-red muscle fibers |
OMIM:614924 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |
Short-Rib Thoracic Dysplasia 12 |
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Pulmonary hypoplasia, Atelectasis |
OMIM:269860 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis |
OMIM:618278 |
Melas |
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Abnormal mitochondria in muscle tissue, Myopathy, Ragged-red muscle fibers, Exercise intolerance |
ORPHA:550 |
Granulomatous Disease, Chronic, X-Linked |
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Pleural effusion, Recurrent pneumonia, Atelectasis |
OMIM:306400 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Skeletal muscle atrophy, Exercise intolerance, Ragged-red muscle fibers, Increased intramyocellul... |
OMIM:252010 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Relapsing Polychondritis |
|
Atelectasis, Gangrene, Arthralgia |
ORPHA:728 |
22Q11.2 Deletion Syndrome |
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Bowel incontinence, Abnormal lung lobation, Atelectasis, Myalgia |
ORPHA:567 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Atelectasis |
ORPHA:534 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers |
ORPHA:255210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
Singleton-Merten Syndrome 1 |
|
Pleural effusion, Recurrent respiratory infections, Muscle fiber atrophy, Tendon rupture |
OMIM:182250 |
Digeorge Syndrome |
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Recurrent pneumonia, Recurrent sinusitis, Atelectasis |
OMIM:188400 |
Choreoacanthocytosis |
|
Distal amyotrophy, Myopathy, Muscle fiber atrophy, Peroneal muscle atrophy |
ORPHA:2388 |