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 |
Prostate Cancer, Hereditary, 1 |
|
Neoplasm, Prostate cancer |
OMIM:601518 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Fatigue, Shoulder ... |
OMIM:619477 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers, Exercise intolerance |
OMIM:616839 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Inclusion Body Myositis |
|
Myalgia, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-re... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Exercise-induced... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Tubular Aggregate Myopathy |
|
Myalgia, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in musc... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Mitochondrial Myopathy With Diabetes |
|
Exercise intolerance, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-... |
OMIM:500002 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Exercise intoler... |
OMIM:616209 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Myopathy, Myofibrillar, 3 |
|
Myalgia, Myofibrillar myopathy, Distal amyotrophy, Achilles tendon contracture, Muscle fiber cyto... |
OMIM:609200 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in lower limbs, Weakness of facial musculature, In... |
ORPHA:457050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy, Exercise intolerance |
OMIM:609273 |
Distal Myopathy, Tateyama Type |
|
Myalgia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:488650 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Back pain, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rim... |
OMIM:300696 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Exercise-induced myalgia, Limb-girdle musc... |
ORPHA:178400 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Myalgia, Back pain, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy |
OMIM:618129 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Exercise intolerance, EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Exercise-induced myalgia, Increased variability... |
OMIM:160565 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Exercise-induced myalgia, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:255320 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Myalgia, Flexion contracture, EMG: myopathic abnormalities, Increased variabilit... |
ORPHA:171442 |
Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Myopathy, Centronuclear, 4 |
|
Myalgia, Centrally nucleated skeletal muscle fibers, Fatigue |
OMIM:614807 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Tuberculosis |
|
Abnormal lung morphology, Fatigue |
ORPHA:3389 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Myopathy, Distal, 1 |
|
Myalgia, Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle... |
OMIM:160500 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Creatine Phosphokinase, Elevated Serum |
|
Myalgia, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Fati... |
OMIM:123320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Myalgia, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness,... |
OMIM:603511 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Abdominal pain, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increas... |
ORPHA:86812 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relatively smaller... |
ORPHA:596 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Hip pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pel... |
OMIM:167320 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema |
OMIM:130700 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Myalgia, Flexion contracture, Z-band streaming, Inc... |
OMIM:617114 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Ches... |
ORPHA:263494 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul... |
OMIM:616867 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Exercise intolerance, EMG: myopathic abnor... |
ORPHA:171439 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Fatigue, Abdominal pain |
OMIM:616794 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Myalgia, Exercise intolerance, Muscular dystrophy, Increased variability i... |
OMIM:616812 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Myalgia, Arthralgia, Proximal muscle weakness in lower limbs, EMG: myopath... |
ORPHA:206569 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Sudden death, Facial palsy, Centrally nucleated ske... |
OMIM:611705 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Recurrent acute respiratory tract in... |
OMIM:620011 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Recurrent infections due to aspiration, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy,... |
OMIM:617519 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... |
ORPHA:98911 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Myalgia, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower... |
ORPHA:352479 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Exercise intoler... |
ORPHA:536516 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Myalgia, Exercise intolerance |
OMIM:619024 |
Laing Early-Onset Distal Myopathy |
|
Myalgia, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopa... |
ORPHA:59135 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Myalgia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities,... |
ORPHA:329478 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... |
ORPHA:1145 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Chest pain, Pleural effusion, Emphyse... |
OMIM:612387 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Idiopathic Bronchiectasis |
|
Halitosis, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Chest pain, ... |
ORPHA:60033 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Left ventricular hypertrophy, Fatigu... |
OMIM:615418 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myalgia, Muscle fiber atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Myopathy |
ORPHA:369840 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Type 1 muscle fiber predominance |
OMIM:618276 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Recurrent lower respirato... |
OMIM:617258 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated ... |
OMIM:255310 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Exercise intolerance, Right ventricular hypertrophy, Emphysema, Abnormal... |
ORPHA:70589 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myalgia, Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Ske... |
ORPHA:57 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... |
ORPHA:98855 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Exercise intolerance, Weakness of facial musculature... |
OMIM:258450 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance |
OMIM:617336 |
Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Myalgia, Lower limb pain, Exercise intolerance, Fatigue, Ragged-red muscle fibers, Chest pain |
ORPHA:1349 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
Polymyositis |
|
Myalgia, Abnormal muscle fiber morphology, Abdominal pain, Fatigue, Abnormal pulmonary interstiti... |
ORPHA:732 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Exercise intolerance, Scapular winging, Ragged-red mu... |
ORPHA:254886 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hip pain, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber di... |
ORPHA:52430 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... |
OMIM:608931 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Pain |
ORPHA:477774 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Exercise intolerance, Left ventricular noncompaction, Increased intramyocell... |
OMIM:252011 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... |
ORPHA:171436 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... |
ORPHA:98863 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Chronic bronchitis, Honeycomb lung, Chest pain, Respiratory tract infection, Emphysema, Bronchiec... |
ORPHA:79127 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Back pain, Ab... |
ORPHA:261 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy |
OMIM:605809 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... |
OMIM:181405 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Nemaline Myopathy 3 |
|
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Limb muscle weak... |
OMIM:161800 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Exercise intolerance, EMG: myopathic abnormalities, Increased variability ... |
OMIM:157640 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Spastic Paraplegia Type 7 |
|
Lower limb pain, Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upp... |
ORPHA:99013 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Type 1 muscle fiber predominance, W... |
ORPHA:98913 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Emphysema |
OMIM:604571 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita |
OMIM:608930 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Exercise-induced myalgia... |
OMIM:619542 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Abdominal pain |
OMIM:613662 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, General... |
ORPHA:352447 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Fatigue, Ragged-red muscle fibers, L... |
OMIM:609286 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myalgia, Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
Pparg-Related Familial Partial Lipodystrophy |
|
Myalgia, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal musc... |
ORPHA:79083 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myalgia, Muscle fiber atrophy, Exercise intolerance, Exercise-induced myalgia, Rhabdomyolysis, In... |
ORPHA:228302 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Myalgia, Flexion contracture, Skeletal muscle hypertrophy, Exercise intolerance, Muscular dystrop... |
OMIM:613327 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hypoproteinemia |
OMIM:615895 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... |
ORPHA:600 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Overlap Myositis |
|
Constitutional symptom, Limb pain, Abnormal pulmonary interstitial morphology, Perifascicular mus... |
ORPHA:206572 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Increased variability in muscle fiber diameter, Elbow flexion con... |
OMIM:619461 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Night sweats, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated skele... |
OMIM:619574 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Exercise intolerance, Weakness of facial musculature, Scapular winging, In... |
OMIM:607459 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Absent bronchoalveolar surfactant-protein C, Nodular pattern on pulmonary H... |
OMIM:610921 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Chylothorax, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Congenital contracture, Ty... |
OMIM:619036 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Type 2 muscle fiber atrophy, Type 1 muscle fiber predominance, Lower limb hypert... |
ORPHA:319514 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Myalgia, Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musc... |
ORPHA:502423 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... |
OMIM:500013 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Arthralgia, Proximal amyotrophy |
OMIM:606408 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture |
OMIM:615368 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the extraocular muscles, Abdominal pain, Foot dorsiflexor weakness, Ragged-red mus... |
ORPHA:298 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
Native American Myopathy |
|
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... |
ORPHA:168572 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... |
ORPHA:217563 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis, Pain |
ORPHA:449285 |
Myopathy, Mitochondrial, And Ataxia |
|
Myalgia, Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Di... |
ORPHA:300605 |
Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... |
ORPHA:98914 |
Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fo... |
OMIM:164310 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Fatigue |
OMIM:607426 |
Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... |
ORPHA:98915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Genetic Recurrent Myoglobinuria |
|
Type 2 muscle fiber atrophy, Exercise-induced myalgia, Myositis, Lower limb muscle weakness, Abno... |
ORPHA:99845 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... |
ORPHA:2020 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema |
OMIM:242700 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... |
ORPHA:258 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Increased variability in muscle fiber diameter, Increased intramyocellular l... |
ORPHA:17 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy |
OMIM:611881 |
Neutral Lipid Storage Myopathy |
|
Myalgia, Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor w... |
ORPHA:98908 |
Myotonic Dystrophy 2 |
|
Myalgia, Type 2 muscle fiber atrophy, Weakness of facial musculature, Sternocleidomastoid amyotro... |
OMIM:602668 |
Hypocomplementemic Urticarial Vasculitis |
|
Myalgia, Pleural effusion, Abdominal pain, Emphysema |
ORPHA:36412 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Quadriceps muscle w... |
ORPHA:254892 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Chronic pain, Pneumothorax, Emphysema |
OMIM:614816 |
Neuromuscular Oculoauditory Syndrome |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Calf muscle hypertrophy, Wrist flexion contr... |
OMIM:618733 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Myasthenia, Limb-Girdle, Autoimmune |
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Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Muscle fiber atrophy, EMG: myopathic abnormalities, Wrist drop, Limb muscle weakness, Elbow flexi... |
ORPHA:1900 |
Netherton Syndrome |
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Recurrent respiratory infections, Emphysema |
ORPHA:634 |
Common Variable Immunodeficiency |
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Arthralgia, Recurrent bronchitis, Pneumonia, Emphysema, Bronchiectasis, Recurrent respiratory inf... |
ORPHA:1572 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Rhabdomyolysis, Ragged-red muscle fibers, Exercise intolerance |
OMIM:124000 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Kearns-Sayre Syndrome |
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Ragged-red muscle fibers |
OMIM:530000 |
Lymphangioleiomyomatosis |
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Chylothorax, Abdominal pain, Fatigue, Chest pain, Emphysema, Pneumothorax, Pulmonary lymphangiomy... |
ORPHA:538 |
Triglyceride Deposit Cardiomyovasculopathy |
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Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... |
ORPHA:565612 |
Idiopathic Camptocormia |
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EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... |
ORPHA:1320 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Abdominal cramps, Allodynia, Abdominal pain, Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
Thyrotoxic Periodic Paralysis |
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Increased intramyocellular lipid droplets, Rhabdomyolysis, Abnormal muscle fiber morphology, Lowe... |
ORPHA:79102 |
Nocardiosis |
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Night sweats, Fatigue, Pneumothorax, Pleuritis, Chest pain, Pneumonia, Emphysema, Ocular pain, Pl... |
ORPHA:31204 |
Meier-Gorlin Syndrome 4 |
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Emphysema |
OMIM:613804 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Type 2 muscle fiber atrophy |
OMIM:613845 |
Marfan Syndrome |
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Myalgia, Pulmonary artery dilatation, Spontaneous pneumothorax, Emphysema, Chronic fatigue, Arthr... |
ORPHA:558 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary artery dilatation, Pulmonary artery aneurysm, Congenital diaphragmatic hernia, Emphysema |
OMIM:614437 |
Congenital Tracheomalacia |
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Recurrent upper respiratory tract infections, Pneumothorax, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Melas |
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Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Myopathy, Exercise intolerance |
ORPHA:550 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema |
OMIM:613177 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |
Cutis Laxa, Autosomal Dominant 1 |
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Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
Fabry Disease |
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Myalgia, Abdominal pain, Left ventricular hypertrophy, Fatigue, Emphysema, Arthralgia |
ORPHA:324 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormal pulmonary interstitial morphology, Chest pain, Pleural effusion, Emphysema, Bronchiectas... |
OMIM:181000 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Increased intramyocellular lipid droplets, Ragged-red muscle fibers, Skeletal muscle atrophy, Exe... |
OMIM:252010 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... |
OMIM:130050 |
Meier-Gorlin Syndrome 1 |
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Emphysema, Joint contracture of the hand, Flexion contracture, Camptodactyly |
OMIM:224690 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema |
ORPHA:90349 |
Sarcoidosis |
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Chylothorax, Fatigue, Abnormal pleura morphology, Pneumothorax, Chest pain, Pleural effusion, Emp... |
ORPHA:797 |
Neonatal Marfan Syndrome |
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Flexion contracture, Emphysema |
ORPHA:284979 |
Meier-Gorlin Syndrome 6 |
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Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Marfan Syndrome |
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Flexion contracture, Camptodactyly, Pulmonary artery dilatation, Emphysema, Pneumothorax, Decreas... |
OMIM:154700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Abnormality of the pulmonary artery, Emphysema |
ORPHA:363618 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy |
OMIM:614557 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Ragged-red muscle fibers |
ORPHA:255210 |
Ellis Van Creveld Syndrome |
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Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema |
OMIM:219721 |
Keutel Syndrome |
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Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Emphysema |
OMIM:245150 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Emphysema, Abnormal pulmonary interstitial morphology, Exercise intolerance |
OMIM:613658 |
Autosomal Dominant Cutis Laxa |
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Bronchiectasis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema |
ORPHA:90348 |
Singleton-Merten Syndrome 1 |
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Pleural effusion, Muscle fiber atrophy, Tendon rupture, Recurrent respiratory infections |
OMIM:182250 |
Choreoacanthocytosis |
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Peroneal muscle atrophy, Muscle fiber atrophy, Myopathy, Distal amyotrophy |
ORPHA:2388 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Emphysema |
ORPHA:500150 |
Viss Syndrome |
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Macroglossia, Right ventricular hypertrophy, Pulmonary artery aneurysm, Contracture of the proxim... |
OMIM:619472 |