Gene: Mstn MGI:95691

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myostatin

Synonyms:

Gdf8

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mstn mutations

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

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

Human diseases associated with Mstn (1 diseases)
Human diseases predicted to be associated with Mstn (1049 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Muscle Hypertrophy		Skeletal muscle hypertrophy	OMIM:614160

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

Disease	Matching phenotypes	Source
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Hypertrophia Musculorum Vera	Calf muscle hypertrophy	OMIM:145800
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short humerus, Rhizomelia, Short femur	OMIM:600121
Lipe-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ...	ORPHA:435660
Myopathy, Distal, With Rimmed Vacuoles	Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m...	OMIM:617158
Polyglucosan Body Myopathy 2	Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe...	OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally...	OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle...	OMIM:618848
Cidec-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tiss...	ORPHA:435651
Nonaka Myopathy	Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ...	OMIM:605820
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low...	OMIM:158600
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect...	ORPHA:79085
Myopathy, Distal, 5	Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne...	OMIM:617030
Inclusion Body Myositis	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl...	ORPHA:611
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipo...	OMIM:615238
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de...	OMIM:601376
Rhizomelic Dysplasia, Ain-Naz Type	Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join...	OMIM:619598
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol...	ORPHA:1802
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Central core regions in muscle fibers	OMIM:159050
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn...	OMIM:181400
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr...	OMIM:601954
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity	ORPHA:140941
Hyperostosis Corticalis Generalisata	Abnormal cortical bone morphology, Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv...	OMIM:609115
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ...	OMIM:166740
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities	OMIM:600334
Miyoshi Myopathy	Tibialis muscle weakness, Distal lower limb amyotrophy, Calf muscle hypertrophy, Triceps weakness...	ORPHA:45448
Osteochondrosis Of The Metatarsal Bone	Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f...	ORPHA:564003
Ethanolaminosis	Cardiomegaly	OMIM:227150
Tubular Aggregate Myopathy	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ...	ORPHA:2593
Insulin Autoimmune Syndrome	Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H...	ORPHA:411593
Myopathy, Distal, Infantile-Onset	Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Calf muscle hypert...	OMIM:160300
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Spinal Muscular Atrophy, Type Iv	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina...	OMIM:271150
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Dense metaphyseal bands, Metaphyseal dysplasia, Clavicular sclerosis	OMIM:615198
Gne Myopathy	Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger...	ORPHA:602
Multiple Symmetric Lipomatosis	Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly	ORPHA:2398
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio	OMIM:125853
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de...	OMIM:611497
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste...	OMIM:615703
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Insulin...	OMIM:615980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8	Elevated circulating creatine kinase concentration, Distal amyotrophy, Calf muscle hypertrophy	OMIM:618135
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D...	OMIM:612526
Transient Neonatal Diabetes Mellitus	Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci...	ORPHA:99886
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges...	ORPHA:3152
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hepatic steatosis, Lipodystrophy, Skeletal muscle hypertrophy, Insulin-resist...	OMIM:613877
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the...	OMIM:607778
Acromesomelic Dysplasia 2A	Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac...	OMIM:200700
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist...	ORPHA:181393
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies	OMIM:609524
Oculopharyngodistal Myopathy 2	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat...	OMIM:618940
Eiken Syndrome	Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss...	ORPHA:79106
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl...	OMIM:615424
Muscular Dystrophy, Congenital, 1B	Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Eleva...	OMIM:604801
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Gnathodiaphyseal Dysplasia	Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing...	ORPHA:53697
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu...	ORPHA:34516
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:171706
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Hyperuricemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II ...	OMIM:604367
Hereditary Myopathy With Early Respiratory Failure	Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	ORPHA:178464
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi...	ORPHA:85188
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Hepatic steatosis, Skeletal muscle...	ORPHA:280365
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita...	OMIM:147891
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Mueller-Weiss Syndrome	Pedal edema, Fragmented, irregular epiphyses, Tibial torsion, Limitation of movement at ankles, S...	ORPHA:566943
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Distal Myopathy With Anterior Tibial Onset	Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi...	ORPHA:178400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ...	OMIM:600785
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration	OMIM:613158
Myopathy, Centronuclear, 1	Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ...	OMIM:160150
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles	ORPHA:270
Rippling Muscle Disease 2	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype...	OMIM:606072
Inclusion Body Myopathy And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n...	OMIM:619733
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Myopathy, Distal, 7, Adult-Onset, X-Linked	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n...	OMIM:301075
Myopathy, Distal, Tateyama Type	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ...	OMIM:614321
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ...	OMIM:613204
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel...	ORPHA:71529
Myopathy, X-Linked, With Postural Muscle Atrophy	Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor...	OMIM:300696
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele...	OMIM:617760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:618992
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hepatic fibrosis, Calf muscle hypertrophy, Abnormal circulating hormone concent...	ORPHA:280356
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro...	ORPHA:603
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr...	ORPHA:79084
Weismann-Netter Syndrome	Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn...	ORPHA:3344
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles	OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy...	OMIM:608807
Epiphyseal Dysplasia, Multiple, 5	Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem...	OMIM:607078
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type...	OMIM:619042
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ...	OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,...	OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb...	OMIM:619566
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ...	ORPHA:970
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Genu varum, Short femoral neck, Coxa vara, Decreased hip abduction, Rhizomelia, Flared iliac wing...	OMIM:183849
Diabetes Mellitus, Ketosis-Prone	Diabetes mellitus, Beta-cell dysfunction, Insulin resistance	OMIM:612227
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Insulin resistance, Hyperlipidemi...	OMIM:617885
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Knee flexion contracture, Hip contracture, Congenital foot contractures, Paraspinal muscle hypert...	OMIM:602484
Caffey Disease	Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal...	OMIM:114000
Short Stature Due To Ghsr Deficiency	Decreased body weight, Abnormality of body weight, Delayed puberty, Decreased serum insulin-like ...	ORPHA:314811
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir...	OMIM:608423
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy	ORPHA:1878
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Cirrhosis, Insulin re...	ORPHA:528
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t...	ORPHA:71526
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr...	OMIM:117000
Vacuolar Neuromyopathy	Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ...	OMIM:601846
Nemaline Myopathy 6	Skeletal muscle atrophy, Nemaline bodies, Myopathy, Limb muscle weakness	OMIM:609273
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua...	ORPHA:206549
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased intramyocellular lipid droplets, Weakness of facial musculature, Distal lower limb musc...	ORPHA:457050
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy	OMIM:611615
Miyoshi Muscular Dystrophy 3	Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating crea...	OMIM:613319
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ...	ORPHA:266
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine k...	ORPHA:280333
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev...	OMIM:613157
Myopathy, Scapulohumeroperoneal	Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f...	OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:254110
Mody	Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, G...	ORPHA:552
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ...	ORPHA:363400
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner...	ORPHA:166119
Cortisone Reductase Deficiency 2	Obesity, Insulin resistance, Premature pubarche	OMIM:614662
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Truncal obesity	OMIM:240900
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M...	OMIM:254130
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro...	OMIM:500002
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Epiphyseal Dysplasia, Multiple, 7	Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip...	OMIM:617719
Tibial Muscular Dystrophy	Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea...	ORPHA:609
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe...	ORPHA:2114
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met...	ORPHA:174
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C...	OMIM:613530
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:612999
Myofibrillar Myopathy 11	Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu...	OMIM:619178
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac...	OMIM:608840
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis,...	ORPHA:1423
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Myasthenic Syndrome, Congenital, 13	Muscle fiber tubular inclusions	OMIM:614750
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal...	ORPHA:324575
Acquired Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy, Myopathy, Insulin resistance	ORPHA:79087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak...	OMIM:611307
Distal Osteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis	OMIM:126250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities	OMIM:609283
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Abnormality of skeletal muscle f...	ORPHA:79083
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,...	ORPHA:399058
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Spinal muscular atro...	OMIM:615048
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic...	OMIM:615381
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt...	ORPHA:93356
Paget Disease Of Bone 2, Early-Onset	Increased susceptibility to fractures, Short femur, Femoral bowing, Osteolysis, Sclerosis of skul...	OMIM:602080
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy, Elevated circulating creati...	OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Elevated circulating creatine ...	OMIM:616052
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ...	ORPHA:2204
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Abnormality of skeletal muscle fiber size, Insulin resistance, Pancreatitis, Hepatic ...	ORPHA:2348
Mandibuloacral Dysplasia	Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ...	ORPHA:2457
Nemaline Myopathy 2	Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt...	OMIM:256030
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di...	OMIM:300717
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy...	OMIM:609968
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox...	OMIM:614302
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp...	OMIM:620068
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr...	OMIM:606762
Epiphyseal Dysplasia, Multiple, 1	Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ...	OMIM:132400
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha...	OMIM:160565
Distal Myopathy, Tateyama Type	Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop...	ORPHA:488650
Lipodystrophy, Familial Partial, Type 1	Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t...	OMIM:608600
Lower Motor Neuron Syndrome With Late-Adult Onset	EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha...	ORPHA:276435
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak...	OMIM:616228
Osteopetrosis, Autosomal Dominant 1	Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi...	OMIM:607634
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617069
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim...	ORPHA:750
Metaphyseal Anadysplasia 2	Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy...	OMIM:613073
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,...	OMIM:612447
Otopalatodigital Syndrome Type 1	Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn...	ORPHA:90650
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity, Hypercholesterolemia	OMIM:608320
Primary Lipodystrophy	Cirrhosis, Type II diabetes mellitus, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipody...	ORPHA:90970
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	OMIM:616313
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L...	ORPHA:293964
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep...	OMIM:609324
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Femoral bowing, Broad t...	OMIM:619638
Pyle Disease	Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb...	OMIM:265900
Zebra Body Myopathy	Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi...	ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo...	OMIM:616924
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet...	OMIM:618654
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra...	ORPHA:440354
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Upper limb undergrowth, Abnormal cortical bone morphology, Limitation of joint mobility, Patholog...	ORPHA:166277
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Abnormal circulating lipid concentration, Cirrhosis, Insulin resistance, Hepati...	ORPHA:79086
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis	OMIM:174810
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia	ORPHA:314802
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc...	OMIM:253700
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Flexion contracture, Atrophic scars, Myopathy, Sc...	OMIM:616471
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concen...	ORPHA:101082
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di...	OMIM:300718
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, P...	OMIM:262400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ...	OMIM:612937
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ...	OMIM:603689
Metaphyseal Chondrodysplasia, Schmid Type	Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph...	OMIM:156500
Cranio-Osteoarthropathy	Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormal...	ORPHA:1525
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort...	OMIM:144750
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity	ORPHA:329249
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance	OMIM:614807
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f...	ORPHA:276580
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Congenital Muscular Dystrophy With Intellectual Disability	Limb-girdle muscle weakness, Multiple joint contractures, Calf muscle hypertrophy, Reduced muscle...	ORPHA:370968
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ...	OMIM:166600
Congenital Myopathy 14	Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi...	OMIM:618414
Melorheostosis	Increased bone mineral density, Arthritis, Joint stiffness, Hyperostosis, Skeletal muscle atrophy...	ORPHA:2485
Syndactyly Type 4	Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber...	OMIM:618823
Nemaline Myopathy 5	Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance...	OMIM:605355
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in...	OMIM:605637
Epiphyseal Dysplasia, Multiple, 4	Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo...	OMIM:226900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free...	ORPHA:276575
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Hyperinsuline...	ORPHA:2298
Brachyolmia Type 1, Hobaek Type	Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el...	OMIM:271530
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy	OMIM:235000
Osteogenesis Imperfecta, Type Xiv	Increased susceptibility to fractures, Recurrent fractures, Osteopenia, Femoral bowing	OMIM:615066
Oculopharyngodistal Myopathy 3	Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel...	OMIM:619473
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Generalized joint laxity...	OMIM:609325
Coronary Artery Disease, Autosomal Dominant 2	Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H...	OMIM:610947
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ...	OMIM:601287
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Flexion contracture, Low...	ORPHA:171442
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy	ORPHA:238329
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara...	ORPHA:66628
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop...	OMIM:617072
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,...	ORPHA:94068
Myopathy, Distal, 3	Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph...	OMIM:610099
Myopathy, Distal, 1	Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur...	OMIM:160500
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu...	OMIM:608358
Angioosteohypotrophic Syndrome	Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ...	ORPHA:75508
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ...	OMIM:613327
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Lower lim...	ORPHA:267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske...	OMIM:618138
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Gnathodiaphyseal Dysplasia	Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ...	OMIM:166260
Ivic Syndrome	Triphalangeal thumb, Pectoralis major hypoplasia, Absent thumb, Upper limb undergrowth, Limited e...	OMIM:147750
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,...	OMIM:603511
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ...	ORPHA:2635
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara...	ORPHA:179494
Distal Nebulin Myopathy	Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i...	ORPHA:399103
Weismann-Netter Syndrome	Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i...	OMIM:112350
Oculopharyngodistal Myopathy 4	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ...	OMIM:619790
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f...	ORPHA:34515
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou...	OMIM:151660
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ...	OMIM:619903
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles...	OMIM:620058
Childhood-Onset Nemaline Myopathy	Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Flexion contracture, Sle...	ORPHA:171439
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h...	ORPHA:399086
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy	ORPHA:309169
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles	OMIM:609452
Glycogen Storage Disease Ixd	Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi...	OMIM:300559
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ...	OMIM:123320
Nemaline Myopathy 4	Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal...	OMIM:609285
Acromesomelic Dysplasia 2C	Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop...	OMIM:201250
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu...	OMIM:615422
Distal Myotilinopathy	Distal amyotrophy, Abnormal muscle fiber myotilin, Multiple joint contractures, EMG: myopathic ab...	ORPHA:98911
Multiminicore Myopathy	Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro...	ORPHA:598
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Recurrent fractures, Slender long bone, Multiple prenatal fractures, Reduced bo...	OMIM:619795
Myopathy, X-Linked, With Excessive Autophagy	Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu...	OMIM:310440
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Pelviscapular Dysplasia	Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S...	ORPHA:93333
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio...	OMIM:614399
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi...	ORPHA:1988
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur...	OMIM:616470
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy...	OMIM:147630
Congenital Myopathy 5 With Cardiomyopathy	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ...	OMIM:611705
Atelosteogenesis Type Ii	Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met...	ORPHA:56304
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	ORPHA:86812
Solitary Fibrous Tumor/Hemangiopericytoma	Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic...	ORPHA:2126
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased serum leptin, Polyphagia, Obesity, Micropenis	OMIM:614962
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Hypothyroidism, Jaundice, Macroglossia, Myopathy, Skeletal muscle hypertrophy, Umbilical hernia	ORPHA:2349
Familial Renal Glucosuria	Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Facial diplegia, Diaphyseal sclerosis, Craniofacial osteosclerosis, Co...	OMIM:122860
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd...	OMIM:620138
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Facial palsy	ORPHA:178377
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabete...	ORPHA:436182
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Elevated circulatin...	OMIM:616827
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis, Diaphyseal dysplasia	OMIM:231095
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Caffey Disease	Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti...	ORPHA:1310
Lipase Deficiency, Combined	Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis	OMIM:246650
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f...	OMIM:300580
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Flat capital femoral...	ORPHA:157965
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Skeletal muscle atrophy...	ORPHA:352479
Kyphomelic Dysplasia	Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Limitation of ...	OMIM:211350
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me...	OMIM:608594
Dpm3-Cdg	Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle hypertrophy	ORPHA:263494
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation...	ORPHA:79237
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Fractured radius, Short ribs, Micrognathia, Short femur, Adducted thumb, Fla...	OMIM:616897
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract...	ORPHA:353
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing...	OMIM:600081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro...	OMIM:613156
Chondrodysplasia, Blomstrand Type	Advanced ossification of carpal bones, Short ribs, Micrognathia, Generalized osteosclerosis, Flar...	OMIM:215045
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr...	ORPHA:369
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Abnormal foot ...	ORPHA:85184
Osteogenesis Imperfecta, Type X	Thin bony cortex, Genu valgum, Generalized joint laxity, Rhizomelia, Micrognathia, Joint laxity, ...	OMIM:613848
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop...	OMIM:608810
Achondroplasia	Genu varum, Short femoral neck, Generalized joint laxity, Short ribs, Rhizomelia, Radial bowing, ...	OMIM:100800
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,...	OMIM:300554
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia, Hepatomegaly	ORPHA:67046
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concen...	OMIM:608390
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi...	ORPHA:486815
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Short f...	ORPHA:1190
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti...	ORPHA:59135
Diastrophic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera...	ORPHA:628
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in...	OMIM:617114
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Polyphagia, Tall stature	OMIM:618406
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hy...	ORPHA:35878
Macrosomia Adiposa Congenita	Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma	OMIM:248100
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase...	ORPHA:446
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Hypertriglyceridemia 1	Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:144600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b...	OMIM:602111
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Short femur, Femoral bowing, Abnormal sacroiliac joint morphology, ...	ORPHA:1860
Seckel Syndrome 10	Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur...	OMIM:617253
Amish Nemaline Myopathy	Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion...	ORPHA:98902
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Amelia, Foot oligodactyly, Short femur	OMIM:601357
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis	OMIM:241520
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to slow healing fractures, D...	OMIM:112250
Pituitary Hormone Deficiency, Combined, 4	Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ...	OMIM:262700
Atelosteogenesis, Type I	Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di...	OMIM:108720
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol...	ORPHA:79644
Langer Mesomelic Dysplasia	Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor...	ORPHA:2632
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Increased variability in muscle fiber diameter, Enamel hypoplasia, Muscul...	OMIM:226670
Grant Syndrome	Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvi...	ORPHA:2097
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me...	OMIM:269700
Intermediate Osteopetrosis	Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Erlenmeyer flask defor...	ORPHA:210110
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati...	OMIM:232400
Mitochondrial Myopathy, Infantile, Transient	Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu...	OMIM:500009
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor...	ORPHA:98905
Epiphyseal Dysplasia, Baumann Type	Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact...	OMIM:610797
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Slender long bone, Micrognathia, Abnormal cortical bone morphology, Limitati...	ORPHA:1486
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty...	OMIM:620161
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo...	ORPHA:73272
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste...	OMIM:136300
Buschke-Ollendorff Syndrome	Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis...	ORPHA:1306
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f...	OMIM:613818
Brody Disease	Flexion contracture, Skeletal muscle hypertrophy	OMIM:601003
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short...	OMIM:601668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:617070
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ...	OMIM:167320
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Congenital Myopathy 3 With Rigid Spine	Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr...	OMIM:602771
Albers-Schönberg Osteopetrosis	Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morphology, Gener...	ORPHA:53
Congenital Myopathy 1B, Autosomal Recessive	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:255320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	OMIM:616812
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan,...	ORPHA:206559
Congenital Muscular Dystrophy, Ullrich Type	Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge...	ORPHA:75840
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp...	OMIM:246700
Maternal Uniparental Disomy Of Chromosome 4	Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Limb-girdle m...	ORPHA:96180
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal...	OMIM:618484
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Recurrent fractures, Micrognathia, Joint laxity, Femoral bowing, Joint hypermob...	OMIM:617952
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	OMIM:255310
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis, Facial palsy	ORPHA:1522
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p...	OMIM:613954
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Osteogenesis Imperfecta, Type Xiii	Wide pubic symphysis, Wide distal femoral metaphysis, Angulated humerus, Recurrent fractures, Inc...	OMIM:614856
Gorham-Stout Disease	Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Torticollis, Osteolysis in...	ORPHA:73
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed...	OMIM:616033
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	ORPHA:437572
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation...	OMIM:214150
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Ske...	OMIM:616867
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Craniometaphyseal Dysplasia, Autosomal Dominant	Calvarial osteosclerosis, Erlenmeyer flask deformity of the femurs, Abnormal pelvic girdle bone m...	OMIM:123000
Myotonia With Skeletal Abnormalities And Mental Retardation	Firm muscles, Skeletal muscle hypertrophy	OMIM:255710
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased T3/T4 ratio, Macroglossia, Impaired sensitivity to thyroid h...	OMIM:614450
Summitt Syndrome	Obesity	OMIM:272350
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus...	ORPHA:119
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con...	OMIM:613752
Bardet-Biedl Syndrome 22	Obesity, Polyphagia, Large for gestational age, Hypogonadism	OMIM:617119
Myotonia Congenita, Autosomal Recessive	Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities	OMIM:255700
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ...	OMIM:617872
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature...	ORPHA:93284
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased LDL cholesterol concentration, Failure to thrive, Delayed puberty, Decreased HDL choles...	OMIM:616834
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly	OMIM:610539
Paramyotonia Congenita Of Von Eulenburg	Skeletal muscle hypertrophy	OMIM:168300
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr...	OMIM:619048
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Recurrent fractures, Osteopenia, Femoral bowing	OMIM:126550
Hemochromatosis, Type 4	Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet...	OMIM:606069
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg...	OMIM:307800
Shox-Related Short Stature	Obesity, Skeletal muscle hypertrophy	ORPHA:314795
Facioscapulohumeral Muscular Dystrophy 1	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Scapulohumeral muscu...	OMIM:158900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,...	OMIM:607765
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Myositis, Skeletal m...	ORPHA:565899
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce...	OMIM:262190
Narcolepsy Type 1	Obesity	ORPHA:2073
Central Core Disease	Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina...	ORPHA:597
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula...	OMIM:608728
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture	OMIM:607855
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing...	OMIM:241530
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia	ORPHA:199276
Osebold-Remondini Syndrome	Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec...	OMIM:112910
Paget Disease Of Bone 3	Osteolysis, Patchy osteosclerosis, Fractures of the long bones	OMIM:167250
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Schaaf-Yang Syndrome	Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Micropenis, Obesity, F...	OMIM:615547
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ...	ORPHA:93307
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Hypogonadism	OMIM:616113
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast...	OMIM:608940
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Decreased response to growth hormone stimulation test, Cystinuria, Failure ...	OMIM:606407
Congenital Myopathy With Myasthenic-Like Onset	Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn...	ORPHA:424107
Bruck Syndrome 2	Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi...	OMIM:609220
Short Syndrome	Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ...	OMIM:269880
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Rabson-Mendenhall Syndrome	Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level...	ORPHA:769
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H...	OMIM:306000
Ullrich Congenital Muscular Dystrophy 1	Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong...	OMIM:254090
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum...	OMIM:607143
Acromesomelic Dysplasia, Grebe Type	Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar...	ORPHA:2098
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal...	ORPHA:206546
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe...	ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w...	OMIM:617950
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a...	OMIM:615158
Dysosteosclerosis	Short diaphyses, Short sternum, Broad femoral neck, Increased susceptibility to fractures, Short ...	OMIM:224300
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper...	OMIM:614736
Axial Osteomalacia	Increased bone mineral density, Myopathy, Osteomalacia	OMIM:109130
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Carcinoma Of Esophagus	Obesity, Weight loss	ORPHA:70482
Langer Mesomelic Dysplasia	Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi...	OMIM:249700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Placental Insufficiency	Small for gestational age, Insulin resistance	ORPHA:439167
Hyperparathyroidism, Transient Neonatal	Recurrent fractures, Short long bone, Short ribs, Short femur, Femoral bowing, Fractured rib, Sub...	OMIM:618188
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density...	OMIM:259700
Uruguay Faciocardiomusculoskeletal Syndrome	Camptodactyly of toe, Skeletal muscle hypertrophy, Joint contracture of the hand, Elevated circul...	OMIM:300280
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Short Syndrome	Weight loss, Insulin resistance, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dent...	ORPHA:3163
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ...	ORPHA:263455
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy	ORPHA:99014
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Coxa valga, Increased bone mineral density, Micrognathia, Flat acetab...	ORPHA:163649
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr...	ORPHA:254361
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Dystonia 7, Torsion	Torticollis, Skeletal muscle hypertrophy	OMIM:602124
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia	ORPHA:90154
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec...	OMIM:231100
Chylomicron Retention Disease	Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, EMG: myopath...	ORPHA:71
Glycerol Kinase Deficiency	Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Muscular dystrophy, ...	OMIM:307030
Thalidomide Embryopathy	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly...	ORPHA:3312
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy	ORPHA:84142
Dent Disease 1	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,...	OMIM:300009
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr...	ORPHA:6
Myopathic Ehlers-Danlos Syndrome	Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,...	ORPHA:536516
Congenital Myasthenic Syndromes With Glycosylation Defect	Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p...	ORPHA:353327
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph...	OMIM:614963
Glycogen Storage Disease Ixb	Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g...	OMIM:261750
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Coxa valga, Micrognathia, Craniofacial hyperosto...	ORPHA:2484
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia	OMIM:613886
Ck Syndrome	Joint hypermobility, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral...	ORPHA:2502
Retinitis Pigmentosa	Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity	ORPHA:791
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing...	OMIM:264700
Donohue Syndrome	Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Postprandial hypergl...	OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo...	OMIM:608612
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc...	ORPHA:508
Mpi-Cdg	Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,...	ORPHA:79319
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing...	OMIM:277440

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us