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 |
|
Prostate cancer, Neoplasm |
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, Weakness of facial musculature, Shoulder girdle muscle weakness, Fatigue... |
OMIM:619477 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Glycogen Storage Disease Xiii |
|
Myalgia, Increased muscle glycogen content |
OMIM:612932 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Fatigue, Increased variability in muscle fiber ... |
OMIM:253601 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Myalg... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Exercise-induced myalgia, Shoulder girdle muscle atrophy, EMG: myo... |
OMIM:254110 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Cerebral Sarcoma |
|
Fibrosarcoma, Neoplasm |
OMIM:117600 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myalgia, Distal amyotro... |
OMIM:609200 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Mya... |
ORPHA:488650 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:399058 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Distal Myopathy With Anterior Tibial Onset |
|
Weakness of the intrinsic hand muscles, Exercise-induced myalgia, Tibialis muscle weakness, Finge... |
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, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Back pain, Myalgia, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Gastrocnemius myalgia, EMG: my... |
ORPHA:276435 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Myalgia, Flexion contract... |
ORPHA:171442 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Myalgia, Weakne... |
OMIM:160500 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Flexion contracture, Scapular winging, Rimmed vacuoles, Back pain |
OMIM:300696 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Exer... |
OMIM:255320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Tuberculosis |
|
Fatigue, Abnormal lung morphology |
ORPHA:3389 |
Bethlem Myopathy 2 |
|
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Myopathy, Centronuclear, 4 |
|
Myalgia, Fatigue, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... |
OMIM:612937 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Creatine Phosphokinase, Elevated Serum |
|
Myopathy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Muscular dystr... |
OMIM:123320 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Left ventri... |
ORPHA:86812 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Pneumonia, Type 1 fibers relatively smaller than type 2 fibers, C... |
ORPHA:596 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... |
ORPHA:280333 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 f... |
OMIM:300580 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:618138 |
Dpm3-Cdg |
|
Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Ches... |
ORPHA:263494 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Emphysema, Flexion contracture |
ORPHA:171719 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Myopathy, Minicore myopathy, Scapular winging, EMG: myopathic abnormalities, Multiple joint contr... |
ORPHA:424107 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Pneumonia, Skeletal muscle atrophy... |
ORPHA:98905 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... |
OMIM:167320 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... |
OMIM:616867 |
Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... |
OMIM:609285 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Ragged-red muscle fibers, Abdominal pain |
OMIM:616794 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content |
OMIM:261750 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Muscular dystrophy, Muscle fib... |
OMIM:253700 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... |
ORPHA:437572 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... |
ORPHA:90041 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... |
ORPHA:206569 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... |
OMIM:617519 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Salih Myopathy |
|
Myopathy, Facial palsy, Sudden death, Calf muscle hypertrophy, Flexion contracture, Centrally nuc... |
OMIM:611705 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Generalized amyotrophy, Facial palsy, Recurrent lower re... |
OMIM:254090 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... |
OMIM:616052 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... |
ORPHA:34515 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... |
ORPHA:98911 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Myalgia, Hypoglyc... |
ORPHA:352479 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies |
OMIM:605637 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... |
OMIM:613818 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... |
ORPHA:254864 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Proximal Myopathy With Extrapyramidal Signs |
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Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
Myopathic Ehlers-Danlos Syndrome |
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Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... |
ORPHA:597 |
Neutral Lipid Storage Disease With Myopathy |
|
Myalgia, Myopathy, Increased muscle lipid content |
OMIM:610717 |
Myopathy, Myosin Storage, Autosomal Recessive |
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Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... |
ORPHA:353327 |
Rigid Spine Muscular Dystrophy 1 |
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Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Generalized amyotrophy, Facia... |
OMIM:602771 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Glycogen Storage Disease 0, Muscle |
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Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
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Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Amish Nemaline Myopathy |
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Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
Sarcoidosis, Susceptibility To, 2 |
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Bronchiectasis, Pneumothorax, Facial palsy, Elevated bronchoalveolar lavage fluid lymphocyte prop... |
OMIM:612387 |
Idiopathic Bronchiectasis |
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Bronchiectasis, Halitosis, Recurrent lower respiratory tract infections, Respiratory tract infect... |
ORPHA:60033 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... |
ORPHA:119 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
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Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
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Abnormal muscle fiber protein expression |
ORPHA:330054 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Myalgia, Ragged-red muscle fibers |
OMIM:619024 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Myopathy, Myalgia, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... |
ORPHA:397744 |
Intermediate Nemaline Myopathy |
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Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Myopathy, Congenital, With Fiber-Type Disproportion |
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Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... |
OMIM:258450 |
Citrullinemia Type Ii |
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Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diameter |
OMIM:619334 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... |
OMIM:617258 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diaphragmatic e... |
OMIM:616866 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... |
OMIM:615418 |
Myasthenic Syndrome, Congenital, 5 |
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Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:603034 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... |
ORPHA:57 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... |
ORPHA:52430 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98855 |
Polymyositis |
|
Abnormal muscle fiber morphology, Myalgia, Arthralgia, Fatigue, Abnormal pulmonary interstitial m... |
ORPHA:732 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... |
OMIM:618484 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Typical Nemaline Myopathy |
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Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... |
ORPHA:171436 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... |
ORPHA:171881 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Panacinar emphysema |
OMIM:613490 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Limb muscle weakness, Myalgia, Muscular dystrophy, Centrally nucleated s... |
OMIM:616812 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Pain |
ORPHA:477774 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro... |
OMIM:608931 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Honeycomb lung, Chronic bronchitis, Bronchiectasis, Hypersensitivity pneumonitis, Respiratory tra... |
ORPHA:79127 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Exercise-induced myalgia, Postexertional malaise, Fatigue, Glycogen accu... |
ORPHA:368 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... |
OMIM:252011 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:261 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy |
OMIM:617066 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:605809 |
Myopathy, Centronuclear, 2 |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... |
OMIM:255200 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Myalgia, Fatigue, Lower limb pain, Chest pain |
ORPHA:1349 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy, Pulmonary sequestration, Emphysema, Abnormal lung morphology |
ORPHA:70589 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Muscle fiber atrophy, Sca... |
ORPHA:254886 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexi... |
ORPHA:171430 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Nemaline Myopathy 3 |
|
Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis multiplex congen... |
OMIM:161800 |
Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... |
ORPHA:79083 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... |
ORPHA:98913 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Increased intramyocellular lipid droplets |
OMIM:612016 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:608930 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myalgia, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2348 |
Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Ge... |
ORPHA:324604 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain... |
ORPHA:99013 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa... |
OMIM:157640 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Exercise-induced myalgia, Abnormality of the foot muscul... |
ORPHA:169189 |
King-Denborough Syndrome |
|
Minicore myopathy, Weakness of facial musculature, Exercise-induced myalgia, Muscle fiber atrophy... |
OMIM:619542 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy |
OMIM:601462 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Myalgia, Fatigue |
OMIM:609286 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Increased muscle lipid content, Exercise-induced myalgia, Myalgia, Muscle fiber atrophy, Rhabdomy... |
ORPHA:228302 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of facial musculature |
ORPHA:352447 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis |
ORPHA:1164 |
Overlap Myositis |
|
Constitutional symptom, Perifascicular muscle fiber atrophy, Limb pain, Abnormal pulmonary inters... |
ORPHA:206572 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Knee flexion contracture, Increased va... |
OMIM:619461 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Rimmed vacuoles, Flexion contracture, Centrally nucleated skel... |
OMIM:248800 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG: myopathic abnorma... |
ORPHA:502423 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Exercise-induced myalgia, Abnormal morphology of musculature of pharynx, Distal upper limb amyotr... |
ORPHA:600 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema |
OMIM:123700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Night sweats, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscl... |
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 |
|
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter |
OMIM:607459 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Honeycomb lung, Absent bronchoalveolar surfactant-protein C, Desquamative i... |
OMIM:610921 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Chylothorax, Type 1 muscle fiber a... |
OMIM:619036 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Fiber type grouping, Distal lower limb amyotrophy, Interosseus muscle atrophy, Thenar muscle atro... |
OMIM:500013 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Ragged-red muscle fibers |
OMIM:607426 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Type 2 muscle fiber atrophy, Hip contracture, Lower limb hypertonia, T... |
ORPHA:319514 |
Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... |
ORPHA:168572 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abdominal pain, Abnor... |
ORPHA:298 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Arthralgia, Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia |
ORPHA:167 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Right ventricular hypertrophy, Spontaneous neonatal pneumothorax, Abnor... |
ORPHA:217563 |
Myopathy, Mitochondrial, And Ataxia |
|
Myalgia, Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Spastic Ataxia 5, Autosomal Recessive |
|
Increased intramyocellular lipid droplets, Skeletal muscle atrophy |
OMIM:614487 |
Snakebite Envenomation |
|
Pain, Muscle fiber necrosis, Rhabdomyolysis |
ORPHA:449285 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Upper limb ... |
ORPHA:263297 |
Immunodeficiency 89 And Autoimmunity |
|
Pleural thickening, Pulmonary bulla, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:619632 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased varia... |
OMIM:164310 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Skeletal muscle atrophy, Contractures of the joint... |
ORPHA:300605 |
Hypophosphatasia |
|
Emphysema |
ORPHA:436 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Increased intramyocellular lipid droplets, Rhabdomyolysis |
OMIM:255125 |
Congenital Myasthenic Syndrome |
|
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... |
ORPHA:98914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Increased intramyocellular lipid droplets, Inc... |
ORPHA:17 |
Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... |
ORPHA:98915 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Abdominal pain, Distal amyotrophy |
OMIM:603041 |
Genetic Recurrent Myoglobinuria |
|
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Exercise-induced m... |
ORPHA:99845 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Pelvic girdle muscle weakness, Hip contracture, Weakness of facial mus... |
ORPHA:2020 |
Myotonic Dystrophy 2 |
|
Myalgia, Type 2 muscle fiber atrophy |
OMIM:602668 |
Neutral Lipid Storage Myopathy |
|
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... |
ORPHA:98908 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Recurrent lower respiratory tr... |
ORPHA:258 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:367 |
Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Rimmed vacuoles |
OMIM:606070 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content |
OMIM:232800 |
Hypocomplementemic Urticarial Vasculitis |
|
Myalgia, Emphysema, Pleural effusion, Abdominal pain |
ORPHA:36412 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Pneumothorax, Emphysema, Chronic pain |
OMIM:614816 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Proximal amyotrophy, Type 2 muscle fiber atrophy |
OMIM:159400 |
Neuromuscular Oculoauditory Syndrome |
|
EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... |
OMIM:618733 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Limb muscle weakness, EMG: myopathic abnormalities, Muscle fib... |
ORPHA:1900 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Facial palsy, Quadrice... |
ORPHA:254892 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... |
ORPHA:565612 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Recurrent bronchitis, Arthralgia, Recurrent respiratory infections, Em... |
ORPHA:1572 |
Netherton Syndrome |
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Recurrent respiratory infections, Emphysema |
ORPHA:634 |
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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Pneumothorax, Chylothorax, Pulmonary lymphangiomyomatosis, Fatigue, Recurrent respiratory infecti... |
ORPHA:538 |
Idiopathic Camptocormia |
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Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal muscle fiber d... |
ORPHA:1320 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Increased muscle lipid content, Knee flexion contracture, Elbow flexion contracture |
OMIM:608836 |
Thyrotoxic Periodic Paralysis |
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Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... |
ORPHA:79102 |
Nocardiosis |
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Chills, Pneumonia, Pneumothorax, Pleuritis, Night sweats, Fatigue, Ocular pain, Emphysema, Pleura... |
ORPHA:31204 |
Meier-Gorlin Syndrome 4 |
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Emphysema |
OMIM:613804 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
Neutral Lipid Storage Disease With Ichthyosis |
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Myopathy, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Shoulder girdl... |
ORPHA:98907 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Congenital diaphragmatic hernia |
OMIM:614437 |
Marfan Syndrome |
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Arthralgia/arthritis, Pulmonary artery dilatation, Skeletal muscle atrophy, Myalgia, Chronic fati... |
ORPHA:558 |
Congenital Ptosis |
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Increased muscle lipid content, Congenital facial diplegia, Congenital fibrosis of extraocular mu... |
ORPHA:91411 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Pulmonary artery stenosis, Emphysema, Pulmonary hypoplasia |
OMIM:613177 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |
Sarcoidosis, Susceptibility To, 1 |
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Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Abnormal pulmonary i... |
OMIM:181000 |
Fabry Disease |
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Myalgia, Arthralgia, Fatigue, Left ventricular hypertrophy, Emphysema, Abdominal pain |
ORPHA:324 |
Melas |
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Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy |
ORPHA:550 |
Congenital Tracheomalacia |
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Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Pneumothorax, Recurrent upper respiratory tract ... |
ORPHA:95430 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repeated pneu... |
OMIM:130050 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pneumothorax, Emphysema, Recurrent pneumonia, Peripheral pulmonary artery stenosis |
ORPHA:90349 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Ragged-red muscle fibers, Increased intramyocellular lipid droplets, Skeletal muscle atrophy |
OMIM:252010 |
Meier-Gorlin Syndrome 6 |
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Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Sarcoidosis |
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Bronchiectasis, Pneumothorax, Facial palsy, Chylothorax, Fatigue, Pulmonary fibrosis, Abnormal lu... |
ORPHA:797 |
Neonatal Marfan Syndrome |
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Emphysema, Flexion contracture |
ORPHA:284979 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Marfan Syndrome |
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Decreased muscle mass, Pulmonary artery dilatation, Pneumothorax, Flexion contracture, Camptodact... |
OMIM:154700 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Ragged-red muscle fibers |
ORPHA:255210 |
Ellis Van Creveld Syndrome |
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Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia |
OMIM:219721 |
Keutel Syndrome |
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Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis |
OMIM:245150 |
Autosomal Dominant Cutis Laxa |
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Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
ORPHA:90348 |
Singleton-Merten Syndrome 1 |
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Muscle fiber atrophy, Recurrent respiratory infections, Tendon rupture |
OMIM:182250 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Abnormal pulmonary interstitial morphology, Emphysema |
OMIM:613658 |
Choreoacanthocytosis |
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Muscle fiber atrophy, Myopathy, Peroneal muscle atrophy, 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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Pulmonary artery aneurysm, Macroglossia, Pneumothorax, Right ventricular hypertrophy, Contracture... |
OMIM:619472 |